Gene Summary

Name:
bone morphogenetic protein 5
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bmp5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cryptotia, Familial
Cryptotia, Abnormality of the outer ear OMIM:123557
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Ear Pits, Posterior Helical
Posterior helix pit OMIM:128710
Ear Without Helix
Abnormal helix morphology OMIM:128800
Question Mark Ears, Isolated
Question mark ear OMIM:612798
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Coxoauricular Syndrome
Hearing impairment, Microtia, Hip dislocation OMIM:122780
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Abnormal rib morphology, Low-set, posteriorly rotat... ORPHA:1506
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Increased incisura length, Mixed hearing impairment, Stenosis of the ... OMIM:612290
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Three M Syndrome 3
Short neck, Short thorax, Dolichocephaly, Increased vertebral height, Clinodactyly of the 5th fin... OMIM:614205
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Short neck, Patellar hypoplasia, Low-set ears, Osteopenia, Short 3rd toe, Pectus e... OMIM:211920
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Cervical Rib
Cervical ribs OMIM:117900
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Micromelia, Scoliosis, Enlarged thorax, Protrudi... ORPHA:2616
Acrocephalopolydactyly
Brachydactyly, Short neck, Microtia, Oxycephaly, Premature closure of fontanelles, Limb undergrow... ORPHA:221054
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Micropenis, Cryptorchidism, Limited elbow flex... OMIM:164745
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Kyphosis, Recurrent ... OMIM:259420
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Recurrent fractu... ORPHA:1486
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Decreased body weight, Failure to thrive in infancy, Disloca... OMIM:610758
Three M Syndrome 2
Clinodactyly, Short neck, Short thorax, Dolichocephaly, Thin ribs, Short 5th finger, Hyperlordosi... OMIM:612921
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Three M Syndrome 1
Short neck, Short thorax, Small for gestational age, Increased vertebral height, Short ribs, Clin... OMIM:273750
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement OMIM:276821
Femoral-Facial Syndrome
Abnormal rib morphology, Polycystic kidney dysplasia, Micrognathia, Scoliosis, Hip dysplasia, Rib... ORPHA:1988
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Microtia, Abnormal pinna morphology,... ORPHA:83463
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Microtia-Anotia
Microtia, Anotia OMIM:600674
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly, Hypopl... OMIM:210720
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Patellar dislocation, Tibial... ORPHA:3320
Renal Dysplasia-Limb Defects Syndrome
Short neck, Phocomelia, Low-set ears, Short sternum, Short metacarpal, Renal hypoplasia, Short ri... OMIM:266910
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... OMIM:249600
Distal Monosomy 17Q
Abnormal hip bone morphology, Abnormal thumb morphology, Upper limb asymmetry, Abnormal form of t... ORPHA:1597
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow dislocation, Metatarsus adductus, Microme... ORPHA:2249
Parietal Foramina With Cleidocranial Dysplasia
Microtia, Symmetrical, oval parietal bone defects, Macrocephaly, Short clavicles, Parietal forami... OMIM:168550
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Scoliosis, Hallux valgus, Mandibular prognathia, Genu valgum, Thoracic k... OMIM:304950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Short neck, Low-set ears, Short ribs, Dysplastic sacrum, Squar... OMIM:613320
Cerebellofaciodental Syndrome
Short neck, Low-set ears, Tapered finger, Microcephaly, Scoliosis, Slender long bone, Dental malo... OMIM:616202
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Bell-sha... OMIM:611702
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Phocomelia, Schinzel Type
Bowing of the long bones, Short neck, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis,... ORPHA:2879
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... ORPHA:2790
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Diaphyseal thickening, Abnormal rib mor... ORPHA:1513
Cenani-Lenz Syndrome
Short thumb, Abnormal rib morphology, Micromelia, Scoliosis, Protruding ear, Hip dislocation, Syn... ORPHA:3258
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Short neck, Single transverse palmar crease, Rhizomelia, H... OMIM:602613
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Slender long bone, Abnormal form of the vertebral bodies, Thin ribs, Triangul... ORPHA:73230
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radiu... ORPHA:75508
Sc phocomelia syndrome
Clinodactyly, Wormian bones, Phocomelia, Absent radius, Short thumb, Micrognathia, Knee flexion c... OMIM:269000
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hy... OMIM:187760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Low-set ears, Abnormality of epiphysis morphology, Rhizomel... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Short neck, Progressive microcephaly, Failure to thrive in infancy... OMIM:611209
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short 5th finger, Hy... OMIM:227270
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Micropenis, Microce... OMIM:612447
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Mosaic Trisomy 14
Short neck, Narrow chest, Microtia, Hypoplasia of penis, Abnormal rib morphology, Micrognathia, L... ORPHA:1703
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Hypoplastic pelvis, Slender long bone, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Metatropic Dysplasia
Kyphosis, Camptodactyly of finger, Abnormal form of the vertebral bodies, Abnormal enchondral oss... ORPHA:2635
Au-Kline Syndrome
Craniosynostosis, Sacral dimple, Dolichocephaly, Microtia, Pectus excavatum, Scoliosis, Postaxial... OMIM:616580
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Cryptorchidism, Elbow dislocation, Micrognathia, Hypoplasia of penis, Pat... ORPHA:93328
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Acro-Renal-Mandibular Syndrome
Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemivertebrae, Hip dislocation, Short ... ORPHA:958
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Patent ductus ar... ORPHA:2970
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Scoliosis, Small hand, Scapular wingi... OMIM:170390
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Clinodactyly of the 5th finger, Conductive hearing impairment, Microtia, Joint contracture of the... OMIM:248910
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Codas Syndrome
Coronal cleft vertebrae, Delayed ossification of carpal bones, Absent epiphyses, Short metacarpal... OMIM:600373
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Atresia of the external auditory canal, Microtia, A... ORPHA:1508
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Clinodactyly of the 5th finger, Atresia of the external ... OMIM:224690
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormal form of the vertebral bo... ORPHA:950
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Polycystic kidney ... OMIM:613091
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Microtia, Abnormal rib morphology, Micromelia... ORPHA:2145
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormalit... ORPHA:3266
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Camptodactyly of toe, Hallux valgus, Protruding ear, Long metacarpals, L... OMIM:600920
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Delayed eruption of teeth, Sensorineural hearing impairment, Microg... OMIM:601812
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Absent radius, Low-set ears, Oligodactyly, Abnormal rib morphology,... OMIM:251230
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Patent ductus arteriosus, Hypoplasia of penis,... ORPHA:2547
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Ovoid vertebral bodies, Abnorma... ORPHA:40
Alagille Syndrome
Hypoplasia of the ulna, Abnormality of the ureter, Abnormal form of the vertebral bodies, Nephrot... ORPHA:52
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Micrognathia, Mandibular aplasia, Microcephaly, Posteriorly ... ORPHA:1832
Diastrophic Dysplasia
Abnormal rib morphology, Micromelia, Scoliosis, Macrocephaly, Hip dysplasia, Large earlobe, Bowin... ORPHA:628
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Proteinuria, Carpal osteolysis, Metacarpal osteolysis, Micro... ORPHA:2774
Short Stature And Facioauriculothoracic Malformations
Cupped ear, Cervical ribs, Short neck, Low-set ears, Microtia, Pectus excavatum, Microcephaly, Ov... OMIM:609654
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Micrognathia, Scoliosis, Genu valgum, Short tho... OMIM:618363
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Sacral dimple, Abnormal form of the vertebral bodies, Narrow chest... ORPHA:1327
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Micrognathia, Microcephaly, Malar flattening, Anteverted nares, Sho... ORPHA:217340
Meier-Gorlin Syndrome 4
Low-set ears, Lateral clavicle hook, Microtia, Micrognathia, Hypoplasia of the maxilla, Microceph... OMIM:613804
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Microcephaly, Craniosynostosis, Prominent nasal bridge OMIM:608432
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Thoracic kyphoscoliosis, Portal hypertension, Single transverse palmar crease, Fail... OMIM:613385
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Low-set ears, Microtia, Micrognathia ORPHA:357175
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Duchenne And Becker Muscular Dystrophy
Slender long bone, Scoliosis, Hyperlordosis ORPHA:262
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Irregular capital femoral epiphysis, Short femoral n... OMIM:616716
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Short ... OMIM:611717
Meier-Gorlin Syndrome 5
Clinodactyly, Small earlobe, Low-set ears, Micropenis, Microtia, Elbow dislocation, Micrognathia,... OMIM:613805
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia ORPHA:2015
Osteogenesis Imperfecta, Type Viii
Wormian bones, Kyphosis, Vertebral compression fracture, Short metacarpal, Thin ribs, Tibial bowi... OMIM:610915
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Abnormal form of the vertebral bodi... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Short neck, Osteopenia, Low-set ears, Short femoral neck, Short metacarpal, Sku... OMIM:616723
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Short neck, Triphalangeal thumb, Microtia, Low-set, posteriorly rotated ears, ... ORPHA:2994
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Rhizomelia,... OMIM:300863
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Non-Distal Trisomy 10Q
Convex nasal ridge, Micrognathia, Low-set, posteriorly rotated ears, Microcephaly, Depressed nasa... ORPHA:1695
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Low-set ears, Microtia, Micrognathia OMIM:615162
Prune Belly Syndrome
Patent ductus arteriosus, Prune belly, Cryptorchidism, Hydronephrosis, Congenital hip dislocation... OMIM:100100
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Treacher Collins Syndrome 3
Abnormality of the outer ear, Conductive hearing impairment, Microtia OMIM:248390
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Tapered finger, Pyloric stenosis, Hydroureter, T... OMIM:617219
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Hypoplastic iliac wing, Mesomelic arm shorteni... OMIM:609616
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Abnormality of ulnar metaphysis, Abnormality o... ORPHA:1040
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Aplasia of the distal phalanges of the toes, Disproportionate shortenin... OMIM:619217
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Renal agenesis, Craniosynostosis, Short palm, Low-set e... ORPHA:171839
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Cryptorchidism, Clinodactyly of the 5th finger, Comple... OMIM:201000
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Polycystic kidney dysplasia, Narrow chest, Hemivert... OMIM:200980
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Hydronephrosis, Broad ... ORPHA:2669
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Dolichocephaly, Low-set, posteriorly rotated ears, Spina bifida occulta, Macro... ORPHA:1185
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Madelung deformity, Lower... ORPHA:314795
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Conductive hearing imp... ORPHA:2878
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Kenny-Caffey Syndrome, Type 1
Short palm, Delayed closure of the anterior fontanelle, Thin ribs, Carious teeth, Thin clavicles,... OMIM:244460
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Micrognathia, Abnormal... OMIM:271640
Fetal Minoxidil Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Umbilical hernia, Micrognathia ORPHA:1918
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Deformed radius, Aplasia of the ulna, Short 4th toe, Aplasia of th... OMIM:181450
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... OMIM:609945
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Ectopic kidney, Small thenar eminence, 2-3 toe syndactyly, C... OMIM:239800
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Hydronephrosis, Micrognathia, Aplasia/Hypoplasia of the ribs... ORPHA:2839
Juberg-Hayward Syndrome
Toe syndactyly, Horseshoe kidney, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal vert... ORPHA:2319
6Q16 Microdeletion Syndrome
Low-set ears, Tapered finger, Microtia, Abnormal ear morphology, Abnormal thorax morphology, Macr... ORPHA:171829
Weill-Marchesani Syndrome 2
Brachydactyly, Joint stiffness, Elbow flexion contracture, Short metacarpal, Broad metatarsal, Br... OMIM:608328
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Epiphyseal Dysplasia, Multiple, 6
Flat capital femoral epiphysis, Irregular epiphyses, Irregular distal femoral epiphysis, Osteoart... OMIM:614135
Cloacal Exstrophy
Abnormality of the clitoris, Hydroureter, Ectopic kidney, Myelomeningocele, Horseshoe kidney, Ren... ORPHA:93929
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Short neck, Short thorax, Aplasia/Hypoplasia involving the pelvis, Microtia, Pectu... ORPHA:163654
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Cousin Syndrome
Microtia, first degree, Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Hypoplastic... OMIM:260660
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Clinodactyly, Decreased body weight, Short neck, Low-set ears, Micropenis, Microtia, Relative mac... OMIM:618336
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
20P12.3 Microdeletion Syndrome
Microtia, Broad thumb, Macrocephaly, Thickened helices, Pectus carinatum, Broad hallux phalanx ORPHA:261295
Meier-Gorlin Syndrome 3
Genu varum, Absent sternal ossification, Micrognathia, Microcephaly, Narrow chest, Aplasia/Hypopl... OMIM:613803
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Short thorax, Cone-shaped epiphy... ORPHA:2484
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Broad skull, Broad ribs, Broad metacarpals, Scoliosis, Lumbar hyp... OMIM:277600
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Atelosteogenesis Type I
Coronal cleft vertebrae, Micrognathia, Scoliosis, Narrow chest, Laryngeal stenosis, Brachydactyly... ORPHA:1190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Foot polydactyly, Fibular hypoplasia, Proteinuria, Bile duct proliferation, Hypo... OMIM:208500
Congenital Disorder Of Glycosylation, Type Iia
Short neck, Coxa valga, Thoracolumbar kyphoscoliosis, Sensorineural hearing impairment, Pectus ex... OMIM:212066
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of pelvic girdle bone morphology, Short neck, Abnormal form of the verteb... ORPHA:1834
Squalene Synthase Deficiency
2-3 toe syndactyly, Failure to thrive in infancy, Micrognathia, Knee flexion contracture, Low-set... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Patent ductus arteriosus, Cryptorchidism, Micropenis, Sandal gap, Short ribs, Rhiz... OMIM:607143
Maxillonasal Dysplasia, Binder Type
Large earlobe, Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Hydronephrosis, Micrognathia, Microcephaly, Short neck, Small for ges... OMIM:616897
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Short femoral neck, Slender build, Small for gestationa... OMIM:608154
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Conductive hearing impairment, Scoliosis, Failure to ... ORPHA:561
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Dolichocephaly, Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Abnormal b... ORPHA:2463
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Adenylosuccinate Lyase Deficiency
Microcephaly, Short nose, Anteverted nares, Low-set ears ORPHA:46
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Enlarged kidney, Absent radius, Hydronephrosis, Hand polydac... OMIM:314390
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Mesomelic/rhizomelic li... ORPHA:1354
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Kyphosis, Short thorax, Short neck, Microtia, Low-set, p... ORPHA:2983
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hypertrophic auricular cartilage, Cy... OMIM:222600
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Cupped ear, Low-set ears, Micropenis, Supernumerary vertebrae, Conductive... OMIM:263750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Depressed nasal bridge, Retrognathia, Anteverted nares, Short nose OMIM:614069
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Bulbous nose, Mesiodens, Wide nose, Macrocephaly, Anteverted nares ORPHA:314647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Ureteral stenosis, Nephrocalcinosis, Hypoplasia of the ulna, Renal cys... OMIM:615398
Achard Syndrome
Arachnodactyly, Joint laxity, Broad skull, Brachycephaly OMIM:100700
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Kyphosis, Metatarsus valgus, Abnormality of epiphysis morphology, Short neck, Apl... ORPHA:3082
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Microtia, Micromelia, Limb undergrowth OMIM:269870
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Wide nasal bridge, Protruding ear OMIM:618302
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Narrow vertebral interpedicular distance, Scoliosi... OMIM:143095
Malan Overgrowth Syndrome
Plagiocephaly, Pectus excavatum, Frontal bossing, Scoliosis, Slender long bone, Macrocephaly, Sca... ORPHA:420179
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Mesomelia, Syndactyly OMIM:228940
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, Thoracic kyphosis, Sh... OMIM:300232
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Duane-Radial Ray Syndrome
Small thenar eminence, Renal malrotation, Sandal gap, Hydronephrosis, Short thumb, Scoliosis, Apl... OMIM:607323
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Abnormal morphology of ulna, Short tibia, Sho... ORPHA:93323
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, 11 pairs of ribs, Microgna... OMIM:108720
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Abnormal form of the vertebral bodies, Hand oligodactyly, Clinodactyly o... ORPHA:3104
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Clinodactyly of the 5th finger, Atresia of the external auditory ca... ORPHA:2554
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... OMIM:609325
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Alazami Syndrome
Slender long bone, Mild microcephaly, Scoliosis, Low-set ears ORPHA:319671
Meier-Gorlin Syndrome 8
Microtia, Low-set ears OMIM:617564
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phal... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Narrow vertebral interpedicular distance, Scoliosis, Metaphyseal widening, Central ve... ORPHA:93352
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Ureteral duplication, Renal hypoplasia/aplasia,... ORPHA:1926
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Enlarged joints, Cutaneous syndactyly, Abnormal vertebral morphology, Pectus excava... ORPHA:166024
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Menke-Hennekam Syndrome 1
Short ear, Absent earlobe, Recurrent upper respiratory tract infections, Anteverted nares, Low-se... OMIM:618332
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Cupped ear, Conductive hearing impairment, Hypoplasia ... ORPHA:246
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarp... OMIM:304120
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypoplastic ischia, Hypoplastic pubic bone, Slender long bone, Cone-shaped epiphyses of the phala... OMIM:210730
Diamond-Blackfan Anemia 11
Absent thumb, Renal agenesis, Hypoplasia of the ulna, Atresia of the external auditory canal, Hyp... OMIM:614900
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Hydronephrosis, Scoliosis, Genu... OMIM:305620
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Radial head subluxation, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal metat... ORPHA:93360
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Hip dislocation, Abnormality of epiphysis morphology, Abn... ORPHA:93359
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Premature osteoarthritis, Delayed proximal femoral epiphyseal ossification, Intervert... ORPHA:93311
Steinfeld Syndrome
Abnormality of the vertebral column, Absent gallbladder, Hypoplasia of the ulna, Missing ribs, Ph... OMIM:184705
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the l... ORPHA:474
Wilson-Turner Syndrome
Tapered finger, Microtia, Micrognathia, Truncal obesity, Small hand, Short foot ORPHA:3459
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Decreased cranial ... OMIM:151210
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Clinodactyly, Plagiocephaly, Low-set ears, Sandal gap, Tapered finger, Microtia, Microcephaly, Po... OMIM:618089
Osteolysis Syndrome, Recessive
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of th... OMIM:259610
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Low-set ears, Fibular ... ORPHA:140
Adams-Oliver Syndrome 4
Umbilical hernia, Patent ductus arteriosus, Short toe OMIM:615297
Tarp Syndrome
Clinodactyly, Horseshoe kidney, Single transverse palmar crease, Low-set ears, Cutaneous syndacty... OMIM:311900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Portal hypertension, Hydronephrosis, Intestinal malrotation, Megacystis, Microco... OMIM:619431
Even-Plus Syndrome
Coronal cleft vertebrae, Vertebral clefting, Short neck, Dysplasia of the femoral head, Microtia,... OMIM:616854
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Fibular hypoplasia, Broad pa... ORPHA:79106
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Renal malrotation, Radial club hand, Sandal gap, Short thumb, Vertebra... ORPHA:959
Thalidomide Embryopathy
Chronic rhinitis, Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morpho... ORPHA:3312
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Cryptorchidism, Hypop... OMIM:602471
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Hammertoe, Intrinsic hand muscle atrophy, Hand muscle weakness, Distal upper limb muscle weakness... ORPHA:488333
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Myelomeningocele, Single transverse palmar crease, Hydroneph... ORPHA:2437
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Abnormal rib morpho... ORPHA:666
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Cryptorchidism, Hydronephrosis, Hypoplasia of the radius, Short thumb, ... OMIM:613390
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Patent ductus arteriosus, Preaxial foot polydac... ORPHA:65759
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Microtia, Sensorineural hearing impairment, Low-set ears OMIM:618500
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Nep... ORPHA:1837
Distal Monosomy 9P
Brachydactyly, Short neck, Abnormal helix morphology, Microtia, Midface retrusion, Low-set, poste... ORPHA:1642
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Seckel Syndrome 7
Clinodactyly, Microtia, Microcephaly, Hip dysplasia, Lumbar scoliosis OMIM:614851
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Clinodactyly of the 5th finger, Abnormality of fibula morphol... ORPHA:2557
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Microtia, Wide nasal bridge, Microretrognathia, Macrocephaly, Short nose OMIM:613603
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Vertebral segmentation defect, Absent gallbladder, Hypoplasia of th... ORPHA:3186
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Clinodactyly, Trismus, Radial deviation of finger, Atresia of the exte... OMIM:154400
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Conductive hearing impairment, Atresia of the externa... ORPHA:1488
Macdermot-Winter Syndrome
Hydronephrosis, Microcephaly, Posteriorly rotated ears, Macrotia, Camptodactyly of finger OMIM:247990
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperextensibility at elbow, Low-set ears, Bulbous nose, Flared nostrils, Micrognathia... OMIM:614756
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Hypoplasia of the maxilla, Microcephaly, Prominent nasal bridge, Protrud... ORPHA:85279
White Forelock With Malformations
Finger syndactyly, Dolichocephaly, Clinodactyly of the 5th finger, Abnormal rib morphology, Low-s... ORPHA:2475
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Micrognathia, Micromelia, Microcephaly, Large hands, Hip dislocation, Brachydac... OMIM:210710
Monosomy 5P
Recurrent fractures, Wide nasal bridge, Low-set, posteriorly rotated ears, Microcephaly, Microret... ORPHA:281
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Hypoplasia of the ulna, Craniosynostosis, Low-set ears, Carious teet... ORPHA:96097
Isotretinoin Embryopathy-Like Syndrome
Microtia, Anotia OMIM:243440
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Abnormality of femoral ep... ORPHA:750
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Mesomelia-Synostoses Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Micromelia, Abnormality of the hume... ORPHA:2496
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Progressive microcephaly, Low-set ears, Micrognathia, Depressed nasal bridge, Short nose OMIM:617802
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Microtia, Arachnodactyly, Microcephaly, Scoliosis, Failure to thrive, Decreased body ... ORPHA:370079
Mullegama-Klein-Martinez Syndrome
Low-set ears, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Microtia, Microgn... OMIM:301022
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Low-set ears, Hyperlordosis, Abnormal clavicl... ORPHA:2522
Fibrochondrogenesis
Hearing abnormality, Brachydactyly, Plagiocephaly, Short neck, Camptodactyly of finger, Low-set e... ORPHA:2021
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormality of the ureter, Hypospadias, Abnormality of tibia morphology ORPHA:2487
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Clinodactyly of the 5th finger, Abnorm... ORPHA:1836
Gracile Bone Dysplasia
Brachydactyly, Hypoplastic spleen, Micropenis, Thin ribs, Flared metaphysis, Failure to thrive, A... OMIM:602361
Zechi-Ceide Syndrome
Abnormal helix morphology, Low-set ears, Conductive hearing impairment, Sandal gap, Microtia, Mid... ORPHA:217017
Distal Tetrasomy 15Q
Large for gestational age, Craniosynostosis, Kyphosis, Horseshoe kidney, Low-set ears, Cupped ear... ORPHA:314588
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Hearing impairment, Epiphyseal stippling, Microcephaly, Depressed nasal bridge, Short na... OMIM:302950
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Microcephaly, Protruding ear, Camptodactyly of finger, Short nose ORPHA:1495
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Meier-Gorlin Syndrome 2
Tracheomalacia, Dolichocephaly, Microtia, Joint hypermobility, Microcephaly, Slender long bone, C... OMIM:613800
Hallermann-Streiff Syndrome
Wormian bones, Slender long bone, Tracheomalacia, Low-set ears, Dolichocephaly, Thin ribs, Hyperl... OMIM:234100
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Microcephaly, ... OMIM:223800
Humeroradial Synostosis
Microtia, Small earlobe OMIM:236400
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, ... ORPHA:168555
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Trismus, Scoliosis, Abnormal pinna morphology, Camp... ORPHA:916
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Baller-Gerold Syndrome
Carpal synostosis, Micrognathia, Carpal bone aplasia, Scoliosis, Bicoronal synostosis, Aplasia of... OMIM:218600
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short palm, Short metacarpal, Short phalanx of fi... OMIM:151200
Cerebellar-Facial-Dental Syndrome
Short neck, Single transverse palmar crease, Low-set ears, Hydronephrosis, Tapered finger, Microg... ORPHA:444072
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Low-set ears, Abnormality of the middle ear ossicles OMIM:221300
Image Syndrome
Cryptorchidism, Hydronephrosis, Micromelia, Metaphyseal dysplasia, Hypospadias, Hypogonadism ORPHA:85173
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Small for gestational age, Dense metaphyseal bands, Sle... ORPHA:50811
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short femoral neck, Short ribs, Rhizomelia, Short humerus, Short ... OMIM:610319
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis, Spina bifida occulta, Cutaneous finger syndac... OMIM:183802
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Rhizomelic arm shortening, Cone-shaped epiphysis, Abnormal scapula ... ORPHA:93317
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Ovoid vertebral bodies, Cone-shaped epiphyses ... OMIM:602875
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Platyspondyly, Abnormality of the metaphysis, Kyphoscol... ORPHA:93304
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Short neck, Flexion contracture, Short ribs, Delayed pubic ... OMIM:613330
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Joint contracture of the hand, Cryptorchidism, Broad hallux, Inguinal... OMIM:175700
Faciocardiomelic Syndrome
Large for gestational age, Micrognathia, Polydactyly, Microcephaly, Cuboid-shaped vertebral bodie... OMIM:612731
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Fatty Acyl-Coa Reductase 1 Deficiency
Progressive microcephaly, Depressed nasal bridge, Macrotia, Short nose ORPHA:438178
Mucopolysaccharidosis Type 4
Abnormal rib morphology, Scoliosis, Spinal canal stenosis, Macrocephaly, Genu valgum, Bowing of t... ORPHA:582
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Rhizomelia, Micrognathia, Short humerus, Stippled c... OMIM:222765
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Craniosynostosis, Decreased body weight, Hydronephrosis, Thin ribs, Micrognathia, ... OMIM:618265
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Epiphyseal stippling, Microtia, Punctate vertebral calcifications, Sho... ORPHA:1914
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Intestinal malrotation, Tracheoesophageal fistula, Anal... ORPHA:2973
Phaver Syndrome
Butterfly vertebrae, Joint stiffness, Abnormal form of the vertebral bodies, Low-set ears, Conduc... ORPHA:2876
Lujan-Fryns Syndrome
Camptodactyly of finger, Low-set ears, Micrognathia, Hypoplasia of the maxilla, Prominent nasal b... ORPHA:776
Catifa Syndrome
Mild microcephaly, Camptodactyly, Microtia OMIM:618761
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Amb... OMIM:615542
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Low-set ears, Clinodactyly of the 5th finger... ORPHA:2759
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Bilateral coxa valga, Abnormal vertebral morphology, Platyspondyly, Ab... ORPHA:163665
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Hypoplasia of the ulna, Cupped ear, Absent radius, Aplasia/Hypoplasia of the... ORPHA:1352
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiph... ORPHA:2768
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Short palm, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Tapered finger, Unilate... ORPHA:476126
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Progressive microcephaly, Bulbous nose, Protruding ear OMIM:618737
Saethre-Chotzen Syndrome
Prominent crus of helix, Clinodactyly of the 5th finger, Scoliosis, Hallux valgus, Brachydactyly,... ORPHA:794
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Low-set ears, Underfolded helix, Depressed nasal ridge, Wide nasal bridge, Hypo... ORPHA:178303
Gms Syndrome
Short palm, Low-set ears, Microtia, Microcephaly, Small hand OMIM:138770
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Recurrent otitis media, Genu varum, Scoliosis, Metaphyseal wideni... OMIM:250420
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Toe clinodactyly, 2-3 toe syndactyly, Long toe, Rocker bottom foot, Short 5th finger, Microtia, B... ORPHA:163979
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal ... OMIM:602271
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Low-set ears, Pectus excavatum, Joint hypermobility, Scoliosis, Posteriorly rotated e... OMIM:618590
Distal Trisomy 14Q
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus, Abnormality of the ... ORPHA:1705
Kagami-Ogata Syndrome
Coxa valga, Thin ribs, Splenomegaly, Hepatomegaly, Micrognathia, Microtia, Hypoplasia of the maxi... OMIM:608149
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Triphalangeal thumb, Atresia of the external auditory canal, Micro... OMIM:141400
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Sandal gap, Low-set, posteriorly rotated ears, Micromelia, Arach... ORPHA:1035
Melnick-Needles Syndrome
Recurrent otitis media, Hydronephrosis, Micrognathia, Anterior concavity of thoracic vertebrae, N... OMIM:309350
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microtia, first degree, Hypoplasia of the ulna, Cupped ear, Absent radius, Clinodactyly of the 5t... OMIM:600123
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Low-set ears, Sandal gap, Abnormal rib morp... ORPHA:2180
Achondrogenesis
Abnormal enchondral ossification, Micrognathia, Macrocephaly, Anteverted nares, Short nose, Abnor... ORPHA:932
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Skin Creases, Congenital Symmetric Circumferential, 2
Short neck, Short palm, Low-set ears, Tapered finger, Carious teeth, Microtia, Micrognathia, Pect... OMIM:616734
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Sensorineural hearing impairment, Microcephaly, Narrow nasal bridge, Short nose OMIM:618379
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Cellulitis, Ventral hernia, Cryptorchidism, Pes planus, Squared iliac bones... OMIM:618000
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Congenital hip dislocation, Vaginal atresia... OMIM:236700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Hydronephrosis, Decreased liver function, Duplicated collecting system, Elevat... OMIM:617093
Trisomy 1Q
Toe syndactyly, Small scrotum, Long foot, Camptodactyly of finger, Patent ductus arteriosus, Cryp... ORPHA:261344
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Prominent occiput, Dolichocephaly, Low-set ears, Short ribs, Late... OMIM:617895
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Joint contracture of the hand, Agenesis of central incisor,... OMIM:311450
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Polycystic kidney dysp... OMIM:184260
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar flattening, Short nose OMIM:122880
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Cryptorchidism, Panhypopituitarism, Hydronephrosis, Syndactyl... OMIM:146510
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... OMIM:118651
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hydronephrosis, Hypoplasia of the radius, Micrognathia, Proximal... OMIM:602418
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Decreased ... ORPHA:2097
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Abnormal rib morphology ORPHA:2435
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Brachydactyly, Clinodactyly, Hypoplastic sacrum, Short femoral neck, Small for gestational age, S... OMIM:614813
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Frontometaphyseal Dysplasia
Limitation of knee mobility, Camptodactyly of finger, Hydronephrosis, Micrognathia, Scoliosis, Me... ORPHA:1826
Van Maldergem Syndrome 2
Clinodactyly, Atresia of the external auditory canal, Micrognathia, Scoliosis, Narrow chest, Micr... OMIM:615546
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Short... OMIM:617925
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Low-set ears, Rhizomelia, Thin ribs, Metaphyseal chondrodysplasia, Platyspondyly, Hyp... ORPHA:163966
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Low-set ears, Hypoplast... ORPHA:2347
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft mandible, Fibular hypoplasia, Agenesis of mandibular central incisor, Clinodactyly of the 5... OMIM:268305
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Asymmetry of the t... ORPHA:1350
Muscular Hypertonia, Lethal
Umbilical hernia, Pneumonia OMIM:254120
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Flared metaphysis, Short... OMIM:156510
Marshall-Smith Syndrome
Clinodactyly of the 5th finger, Scoliosis, Hallux valgus, Bullet-shaped middle phalanges of the h... OMIM:602535
Familial Visceral Myopathy
Micrognathia, Megacystis, Arachnodactyly, Abdominal situs inversus, Aplasia/Hypoplasia of the abd... ORPHA:2604
Perlman Syndrome
Low-set ears, Wide nasal bridge, Micrognathia, Posteriorly rotated ears, Retrognathia, Macrocepha... ORPHA:2849
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Talar aplasia, Aplasia of the 3rd finger, Hydronephrosis, Triangular tibia, Osteo... OMIM:619218
Caudal Duplication
Myelomeningocele, Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Uterus didelph... ORPHA:1756
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodie... ORPHA:2370
Dysspondyloenchondromatosis
Enlarged joints, Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibul... ORPHA:85198
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Decreased mobility 3rd-5th fingers, Fibular hypopl... OMIM:164900
Sweeney-Cox Syndrome
Cupped ear, Prominent metopic ridge, Low-set ears, Cutaneous syndactyly, Microtia, Midface retrus... OMIM:617746
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, Decreased body weight, Short neck, Sacral dimple, Low-set ears, Tapered finger, A... ORPHA:505237
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finge... ORPHA:3079
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Cryptorchidism, Tapered finger, Pes cavus, Short foot OMIM:309585
Mucopolysaccharidosis, Type Iva
Large elbow, Pointed proximal second through fifth metacarpals, Scoliosis, Mandibular prognathia,... OMIM:253000
Oeis Complex
Cryptorchidism, 11 pairs of ribs, Hydronephrosis, Renal agenesis, Rectovaginal fistula, Micropeni... OMIM:258040
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Short long bone, Patent ductus arteriosus, Ureteral atresia, Bilateral... OMIM:618845
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Elbow dislocation, Metatarsus adductus, Cubitus valgus, Cam... ORPHA:2804
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Hearing impairment, Macrocephaly, Broad jaw ORPHA:178377
Microcephalic Primordial Dwarfism, Dauber Type
Clinodactyly of the 5th finger, Obesity, Subglottic stenosis, Microtia, Madelung deformity, Micro... ORPHA:319675
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Multiple small medullary renal cysts, Cholest... OMIM:118450
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Craniosynostosis, Low-set ears, Hypercalciuria, Upper limb undergro... ORPHA:369837
Al-Raqad Syndrome
Microcephaly, Joint laxity, Short nose, Low-set ears OMIM:616459
X-Linked Intellectual Disability, Porteous Type
Cupped ear, Bulbous nose, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia ORPHA:93945
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Sensorineural hearing impairment, Aplasia/Hypoplasia involving the nose, H... ORPHA:1529
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
6P22 Microdeletion Syndrome
Clinodactyly, Short neck, Finger syndactyly, Low-set ears, Hydronephrosis, Overfolded helix, Hear... ORPHA:251046
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Abnormal rib morphology, Micrognathia, Scoliosis,... ORPHA:90652
Mosaic Trisomy 8
Abnormal pinna morphology, Short neck, Hearing impairment, Clinodactyly of the 5th finger, Hydron... ORPHA:96061
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cor... OMIM:122860
Osteopathia Striata With Cranial Sclerosis
Fibular hypoplasia, Clinodactyly of the 5th finger, Micrognathia, Multicystic kidney dysplasia, S... OMIM:300373
Recombinant Chromosome 8 Syndrome
Low-set ears, Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Pectus excavatum, Sco... OMIM:179613
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Retrognathia, Macrocephaly, Short nose OMIM:613670
Myopathy, Congenital, Progressive, With Scoliosis
Low-set ears, Hydronephrosis, Micrognathia, Scoliosis, Posteriorly rotated ears, Bell-shaped thor... OMIM:618578
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Micrognathia, Scoliosis, Narrow chest, Cond... OMIM:601390
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Carpal synostosis, Small earlobe, Microtia, Frontal bossing, Humeroradial synostos... OMIM:236410
Cat-Eye Syndrome
Hydronephrosis, Abnormal rib morphology, Abnormal localization of kidney, Renal hypoplasia/aplasi... ORPHA:195
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly