Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tetratricopeptide repeat domain 21B
Synonyms:
2410066K11Rik,  line 158,  Thm1,  aln

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ttc21b mutations

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

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

The table below shows human diseases associated to Ttc21b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ttc21b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Teratocarcinoma-Derived growth factor 1
Microcephaly, Hypoplasia of the corpus callosum, Absent septum pellucidum OMIM:187395
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cri du Chat Syndrome (5p deletion)
Microcephaly DECIPHER:2
Mental Retardation, Autosomal Recessive 51
Microcephaly OMIM:616739
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
Microcephaly DECIPHER:62
Mental Retardation, Autosomal Recessive 28
Microcephaly OMIM:614347
Microcephaly 23, Primary, Autosomal Recessive
Microcephaly OMIM:617985
Microcephaly 18, Primary, Autosomal Dominant
Microcephaly OMIM:617520
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
Microcephaly DECIPHER:92
Mental Retardation, Autosomal Recessive 24
Microcephaly OMIM:614345
Encephalomalacia, Multilocular
Encephalomalacia, Microcephaly OMIM:225700
Arachnoid Cysts, Intracranial
Macrocephaly, Microcephaly OMIM:207790
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Microcephaly 1, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly OMIM:251200
Triglyceride Storage Disease, Type I
Microcephaly OMIM:190420
Pontocerebellar Hypoplasia, Type 5
Microcephaly, Olivopontocerebellar hypoplasia OMIM:610204
Microcephaly 24, Primary, Autosomal Recessive
Microcephaly, Cerebellar vermis hypoplasia OMIM:618179
Seckel Syndrome 6
Microcephaly OMIM:614728
Microcephaly 11, Primary, Autosomal Recessive
Microcephaly OMIM:615414
Microcephaly 21, Primary, Autosomal Recessive
Microcephaly OMIM:617983
Microcephaly 25, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly OMIM:618351
Congenital Intrauterine Infection-Like Syndrome
Cerebral cortical atrophy, Microcephaly, Cerebral calcification ORPHA:1229
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypo... OMIM:617866
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Microcephaly OMIM:271110
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Talipes equinovarus, Short femur, Abnormality of the ribs, Long penis, ... ORPHA:1988
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest OMIM:617405
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Mental Retardation, Autosomal Recessive 50
Microcephaly OMIM:616460
Intellectual Developmental Disorder, X-Linked 63
Microcephaly OMIM:300387
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly, Abnormal thorax morpholo... ORPHA:294975
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat aceta... OMIM:184260
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Horizontal ribs, Postaxial polydactyly, Short digit, Femoral bowing, Micropenis, Later... OMIM:613091
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Pectus excavatum, Upper l... ORPHA:64755
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Genu va... OMIM:184255
Dihydropteridine Reductase Deficiency
Microcephaly ORPHA:226
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Finger s... ORPHA:2311
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Scoliosis, Short hallux, Overlapping fingers, Pectus excavatum, Postaxial polydactyly, Adducted t... OMIM:618167
Diaphanospondylodysostosis
Short thorax, Multiple renal cysts, Myelomeningocele, Enlarged thorax, Absent or minimally ossifi... ORPHA:66637
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Abnormality of the ribs, Postaxial hand polydacty... ORPHA:474
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Post... OMIM:614091
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern OMIM:604804
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Acropectoral Syndrome
Pectus carinatum, Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, T... OMIM:605967
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Narrow chest, P... ORPHA:1505
Microcephaly 8, Primary, Autosomal Recessive
Microcephaly OMIM:614673
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Unilateral renal agenesis, Hem... OMIM:608406
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe,... OMIM:609616
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-... ORPHA:1836
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Acrorenal-Mandibular Syndrome
Narrow chest, Split hand, Hemivertebrae, Missing ribs, Elbow flexion contracture, Hypoplasia of t... OMIM:200980
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polyda... OMIM:263520
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular ep... OMIM:608728
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Bardet-Biedl Syndrome 12
Polydactyly, Abnormality of the kidney OMIM:615989
Mgat2-Cdg
Tall stature ORPHA:79329
Cardiospondylocarpofacial Syndrome
Scoliosis, Horseshoe kidney, Tarsal synostosis, Cone-shaped epiphysis, Rib fusion, Carpal synosto... OMIM:157800
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis, Abnormality of the metap... ORPHA:93304
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Summitt Syndrome
Obesity OMIM:272350
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Single ... OMIM:617927
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Micropenis, Brachydactyly OMIM:615983
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal form of the... ORPHA:1354
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Horseshoe kidney, Abnormality of finger, Abnormal vertebral ... ORPHA:2319
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Scoliosis, Narrow chest, Polydactyly, Short ribs, Short long bone, Stage 5 chronic kidney disease... OMIM:613819
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm, Micromelia ORPHA:168555
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Limited... OMIM:271650
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormalit... ORPHA:2790
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Hemivertebrae, Mesoaxial foot polydactyly, Micropenis, Distal ... OMIM:146510
Verheij Syndrome
Scoliosis, Renal hypoplasia, Cerebral atrophy, Microcephaly, Hemivertebrae, Vertebral fusion, Cli... OMIM:615583
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Hypoplastic iliac wing, Irregular vertebral endplates, Horizontal ... OMIM:187760
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Microcephaly, Ri... OMIM:206900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Abnormality of the ribs, Hy... ORPHA:93351
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Abnormal shoulder morphology, Spren... ORPHA:2345
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Abnormal renal collecting system morphology, Dysplastic sacrum... OMIM:134780
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... OMIM:268310
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Microcephaly ORPHA:2435
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Sprengel anomaly, Hemiverteb... OMIM:184400
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Club-shape... OMIM:184250
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... ORPHA:1350
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vert... OMIM:271520
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Renal cyst, Brachydactyly, Abnormality of the kidney OMIM:615982
Distal Tetrasomy 15Q
Scoliosis, Horseshoe kidney, Hydrocephalus, Abnormal sternum morphology, Kyphosis, Camptodactyly,... ORPHA:314588
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Short thorax, Limited e... ORPHA:239
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Severe limb shortening, Metaphyseal c... OMIM:151210
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Abnormality of the ribs, Narrow chest, Abnormality o... ORPHA:93267
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Rhizomelia, Thora... OMIM:602271
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Polycystic kidney dysplasia, Microcephaly, Hip dislocation, Short neck OMIM:608776
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Genu valgum, Short thorax, Coronal cleft vertebrae, Abnormal vertebral ... OMIM:618363
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Single transverse palmar crease, Renal dysplasia, Clinodact... OMIM:236500
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Hypoplasia of the corpus callosum, Sprengel anomaly, Rib fusion, Hemiver... ORPHA:1394
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Rhizomeli... OMIM:602111
Gillessen-Kaesbach-Nishimura Syndrome
Short long bone, Ulnar deviation of the hand, Polycystic kidney dysplasia, Narrow greater sciatic... OMIM:263210
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Scoliosis, Narrow chest, Abnormality of the urinary system, Rib fusion, Hemiver... ORPHA:94095
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Rocker bottom foot, Dislocated radial head, Talipes equinovarus, Anterior clefting of ... OMIM:265000
Diastrophic Dwarfism
Scoliosis, Hip dysplasia, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical ... ORPHA:628
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Epiphyseal stippling, Renal cyst, Colpocephaly OMIM:614870
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Hypoplasia of the corpus c... OMIM:617102
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Enlarged kidney, Tapered toe, Microcephaly, Intracerebral periventricular ca... OMIM:608836
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Pectus carinatum, Carpal bone hypoplasia, Severe carpal... OMIM:184252
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Microcephaly, Abnormalit... ORPHA:2522
Meckel Syndrome, Type 10
Postaxial polydactyly, Sacral dimple, Anencephaly, Renal cyst, Hypospadias, Micropenis OMIM:614175
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Limited elbow extension, Abnorma... ORPHA:93359
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaph... OMIM:300863
Trisomy 17P
Scoliosis, Urethral valve, Urethral stenosis, Clinodactyly of the 5th finger, Hydronephrosis, Pol... ORPHA:261290
Joubert Syndrome 18
Polydactyly, Camptodactyly, Horseshoe kidney, Kyphoscoliosis OMIM:614815
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Aicardi Syndrome
Scoliosis, Cavum septum pellucidum, Spina bifida, Bifid ribs, Pachygyria, Partial agenesis of the... OMIM:304050
Endocrine-Cerebroosteodysplasia
Microphallus, Shield chest, Narrow chest, Enlarged kidney, Polydactyly, Holoprosencephaly, Barrel... OMIM:612651
Narcolepsy Type 1
Obesity ORPHA:2073
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Ectopic kidney, Abnormality of the ribs, Renal agenesis, Short neck, Vertebral s... ORPHA:2578
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Hand polydactyly, Abnormal vertebral morphology, Rib fusion, Multicystic kidney dysplasia ORPHA:261197
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Broad palm, Short finger, Single transverse palmar crease, Multicysti... OMIM:300209
Holt-Oram Syndrome
Scoliosis, Abnormality of the ribs, Abnormal clavicle morphology, Broad thumb, Radioulnar synosto... ORPHA:392
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the ribs, Abnormal form of the vertebral bodies, Abnormality of the uri... ORPHA:1834
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Hyperechogenic kidneys, Talipes equinovarus, Short neck,... OMIM:613885
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow iliac wing, Meta... OMIM:250420
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Prominent sternum, Flared iliac wing, Broad palm, Thoracic k... OMIM:300232
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasi... OMIM:618395
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Autosomal Recessive Robinow Syndrome
Scoliosis, Broad thumb, Elbow dislocation, Split hand, Broad hallux phalanx, Bilateral single tra... ORPHA:1507
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Congenital hip dislocation, Branc... OMIM:113650
Poland Syndrome
Scoliosis, Absent hand, Split hand, Abnormal sternum morphology, Duplicated collecting system, He... ORPHA:2911
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Rib fusion, Sacral dimple, Dysplastic corpus callosum, Hyperintensity of cerebral wh... ORPHA:544488
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Hypopituitarism, Multicy... ORPHA:140976
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Finger syndactyly, Abnormal sternum morphology, Pectus excava... ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Postaxial hand polydactyly, Overlapping toe, Narrow chest, Beaking of vertebral bodies... OMIM:213980
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Roberts Syndrome
Bilateral single transverse palmar creases, Sandal gap, Wrist flexion contracture, Phocomelia, Co... ORPHA:3103
Trisomy X
Hip dysplasia, Pectus excavatum, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clinodac... ORPHA:3375
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, P... OMIM:277170
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Polydactyly, Renal cyst, Stage 5 chronic kidney disease, Brachydactyly OMIM:615994
15q26 overgrowth syndrome
Scoliosis, Camptodactyly of finger, Abnormality of toe, Horseshoe kidney, Abnormality of finger, ... DECIPHER:81
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Short phalanx of finger, Cone-shaped epiphysis, Nephropathy, Short ribs, Renal ... OMIM:266920
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Myelomeningocele, Polyda... OMIM:311200
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Polydactyly, Short middle pha... OMIM:617926
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:157
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Narrow chest, Horizontal ribs, Chronic kidney ... OMIM:208500
Baller-Gerold Syndrome
Scoliosis, Hypoplasia of the radius, Agenesis of corpus callosum, Abnormal vertebral morphology, ... OMIM:218600
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Orofaciodigital Syndrome Xv
Broad hallux, Hydronephrosis, Postaxial polydactyly, Agenesis of corpus callosum OMIM:617127
Diaphanospondylodysostosis
Lumbosacral meningocele, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged ... OMIM:608022
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypopl... OMIM:601389
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Unilateral renal agenesis, Cerv... OMIM:118100
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Bowing of ... OMIM:187600
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Hydrolethalus Syndrome 2
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Abnormal thorax morphology, Short thumb, Abnormality of the kidney, Short ... ORPHA:280
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded ribs, Short lower ... OMIM:259440
Joubert Syndrome 7
Scoliosis, Nephronophthisis, Postaxial hand polydactyly, Postaxial polydactyly, Abnormal corpus c... OMIM:611560
Campomelia, Cumming Type
Bowing of the long bones, Polycystic kidney dysplasia OMIM:211890
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Aplasia/Hypoplasia involving bones of the thorax, Renal insufficiency, Sho... ORPHA:397715
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Aqueductal stenosis, Tibial bowing, Abnormally ossified ... ORPHA:3035
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Hypoplastic i... OMIM:617895
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Rena... OMIM:603194
Bardet-Biedl Syndrome 19
Polydactyly, Renal insufficiency OMIM:615996
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... ORPHA:2839
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Renal hypoplasia, Abnormal pe... ORPHA:3404
Say Syndrome
Cystic renal dysplasia, Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Sandal gap, Hemivertebrae, Ab... ORPHA:2180
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Robinow Syndrome
Scoliosis, Mesomelic arm shortening, Webbed penis, Radioulnar dislocation, Mesomelia, Fused thora... ORPHA:97360
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Polydactyly, Megalencephaly, Polymicrogyria, Syndactyly, Nephroblastoma,... OMIM:602501
Aicardi Syndrome
Scoliosis, Hip dysplasia, Bifid ribs, Pachygyria, Partial agenesis of the corpus callosum, Microc... ORPHA:50
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Talipes equinovarus, Rhizomelia, Camptodactyly, Cerebral atrophy, Progressive microcep... OMIM:611209
Cat-Eye Syndrome
Hip dysplasia, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ribs, Renal hy... ORPHA:195
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Rhizomelia, Thoracic hypoplasia, Irregu... ORPHA:168549
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Bowing of the long... ORPHA:2484
Prune Belly Syndrome
Scoliosis, Talipes equinovarus, Urogenital sinus anomaly, Congenital hip dislocation, Hydroureter... ORPHA:2970
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:228308
Au-Kline Syndrome
Scoliosis, Hip dysplasia, Deep palmar crease, Overlapping toe, Pectus excavatum, Postaxial polyda... OMIM:616580
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Multiple renal cysts, Short femur, Abnormal ossification involving the ... ORPHA:1190
Cog1-Cdg
Irregularity of vertebral bodies, Temporal cortical atrophy, Posterior rib gap, Rhizomelia, Progr... ORPHA:263508
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Pectus excavatum, Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Arima Syndrome
Nephronophthisis, Postaxial hand polydactyly, Tubulointerstitial fibrosis, Occipital meningocele,... OMIM:243910
3M Syndrome
Scoliosis, Congenital hip dislocation, Enlarged thorax, Abnormality of the elbow, Horizontal ribs... ORPHA:2616
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Megalencephaly, Abnormal cor... ORPHA:280195
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Kyphosis, 2-3 toe syndactyly, Hydrocephalus, L... OMIM:300960
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Bilateral single transverse palmar creases, Hypoplasia of ... ORPHA:1703
Achondrogenesis Type 1B
Short thorax, Narrow chest, Umbilical hernia, Short foot, Abnormality of the ribs, Talipes equino... ORPHA:93298
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cubitus valgus, Camptodactyly, Aminoaciduria, Metatarsus adductus, Polycystic kidney dysplasia, J... OMIM:214110
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Metaphyseal irregularity,... ORPHA:93352
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Short finger, Pectus excavatum, Cerebral at... OMIM:258860
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Renal cyst OMIM:614465
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Myelomeningocele, Abnormal form of t... ORPHA:2876
Meckel Syndrome, Type 1
Postaxial hand polydactyly, Agenesis of corpus callosum, Hypoplasia of the bladder, Bowing of the... OMIM:249000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hydrocephalus, Hypoplasia of the corpus callosum, Kyphosis, Megalencephaly, Postaxial... OMIM:603387
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253000
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Spina bifida, Irregular ossification of hand bones, Polydactyly,... OMIM:109400
Floating-Harbor Syndrome
Shield chest, Short clavicles, Short thumb, Broad fingertip, Short neck, Hip dysplasia, Dislocate... ORPHA:2044
Campomelia, Cumming Type
Multiple renal cysts, Bowing of the long bones, Abnormal thorax morphology, Multicystic kidney dy... ORPHA:1318
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Joubert Syndrome 20
Syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Acrofacial Dysostosis, Rodríguez Type
Talipes equinovarus, Radioulnar synostosis, Finger syndactyly, Abnormal form of the vertebral bod... ORPHA:1788
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Metatarsus adductus, Short thumb, Hydrocephalus, Periventricular cysts, Hi... OMIM:194190
Pontine Tegmental Cap Dysplasia
Scoliosis, Hypoplasia of the corpus callosum, Rib fusion, Hemivertebrae OMIM:614688
Mosaic Trisomy 1
Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, Micropenis, Thoracic ... ORPHA:1692
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Clinodactyly ... ORPHA:2475
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Sho... OMIM:615503
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Phelan-Mcdermid Syndrome
Abnormal periventricular white matter morphology, 2-3 toe syndactyly, Large hands, Sacral dimple,... OMIM:606232
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Crossed fused renal ectopia, Toe syndactyly, R... ORPHA:3258
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Horseshoe kidney, Broad thumb, Finger syndactyly, Adducted thumb, Axi... ORPHA:3320
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Lacticaciduria, Scapular winging, Glutaric aciduria, 3-Methylglutaric aciduria, Po... ORPHA:26791
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short thumb... OMIM:613390
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Microcephaly, Cerebral cortical atrophy, Vesicoureteral reflux, Abnormal hi... ORPHA:1166
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow chest, Abnormal form of the ... ORPHA:2021
Radio-Renal Syndrome
Hypoplasia of the radius, Renal agenesis, Abnormal form of the vertebral bodies, Abnormality of t... ORPHA:3015
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopa... OMIM:231680
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Abnormality of the ribs, Short thorax, Abno... ORPHA:582
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hypo... ORPHA:163966
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Mesomelia, Hypoplasia of the ulna, Syndactyly, Renal cyst OMIM:228940
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Pallister-Hall Syndrome
Broad thumb, Bilateral renal agenesis, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal ... ORPHA:672
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth, Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Hypoplasia of penis, Abnormality of the rib... ORPHA:2234
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Holzgreve Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the metacarpal bones,... ORPHA:2167
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin clavicles, Post... OMIM:228520
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Distal Monosomy 12Q
Overlapping toe, Short middle phalanx of finger, 2-3 toe syndactyly, Large hands, Single transver... ORPHA:96149
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of the ribs, Abnormality of pelvic girdle bone morphology ORPHA:1506
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Punctate vertebral calcifications, Polydactyly, Hemiatrophy, Pos... OMIM:302960
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Myelomeningocele, Posterior rib gap, Kyphosis, Bell-shaped thor... ORPHA:1393
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Kyphosis, Postaxial polydactyly, Sacral... OMIM:615761
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Aplasia/Hypoplasia of the corpus callosum, Narrow chest, F... OMIM:251230
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253010
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Vacterl/Vater Association
Abnormality of the ribs, Preaxial hand polydactyly, Renal agenesis, Finger syndactyly, Aplasia/Hy... ORPHA:887
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Multicystic kidney dysplasia, Postaxial foot polydactyly... OMIM:607361
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Narrow chest, Flared iliac wing, Elbow dislocation, Abnormality of ... ORPHA:90652
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Short neck, Vertebral segmentation defect, Block... OMIM:272460
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomelia, Short humerus, Short r... OMIM:610319
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Bilateral single transverse p... ORPHA:1120
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... ORPHA:3033
Opsismodysplasia
Scoliosis, Squared iliac bones, Renal phosphate wasting, Anterior rib cupping, Narrow chest, Rhiz... OMIM:258480
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Harrod Syndrome
Scoliosis, Abnormal shoulder morphology, Kyphosis, Microcephaly, Multicystic kidney dysplasia, Ce... ORPHA:2115
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormality of the urethra, Abnormality of the upper urinary tract... ORPHA:2145
Achondrogenesis Type 1A
Short thorax, Narrow chest, Umbilical hernia, Multiple rib fractures, Short foot, Short neck, Sho... ORPHA:93299
Bardet-Biedl Syndrome 8
Polydactyly, Renal dysplasia, Hypospadias OMIM:615985
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Umbilical hernia, Abnormal hip bone morphology, Abnormal... ORPHA:363705
Ivic Syndrome
Scoliosis, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth,... OMIM:147750
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Mckusick-Kaufman Syndrome
Postaxial hand polydactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, ... OMIM:236700
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral mo... OMIM:308205
Abcd Syndrome
Large for gestational age OMIM:600501
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Barrel-sh... OMIM:200600
Zttk Syndrome
Scoliosis, Horseshoe kidney, Hypoplasia of the corpus callosum, Kyphosis, Abnormal cerebral white... OMIM:617140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypospadias, Microcephaly, Hypoplastic ischia OMIM:616910
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Short ribs, Polymicrogyri... OMIM:616546
Septooptic Dysplasia
Absent septum pellucidum, Polydactyly, Short finger, Anterior pituitary hypoplasia, Agenesis of c... OMIM:182230
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syn... ORPHA:958
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Coronal cleft vertebrae, Abnormality of the ischium, Mesomel... ORPHA:2347
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Microcephaly, Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Slender long bone, Abnormal hip ... ORPHA:1486
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
1P36 Deletion Syndrome
Scoliosis, Hip dysplasia, Camptodactyly of finger, Agenesis of corpus callosum, Kyphosis, Microce... ORPHA:1606
Joubert Syndrome 15
Polydactyly, Nephronophthisis, Micropenis OMIM:614464
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Sprengel anomaly, Unilateral renal agenesis, Ectopic kidney,... OMIM:601076
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Epidermal Nevus Syndrome
Spinal canal stenosis, Weakness of long finger extensor muscles, Thoracolumbar scoliosis, Polycys... ORPHA:35125
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Bowing of the long bones, Anenceph... OMIM:611134
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Long palm, Hemivertebrae, Clinodactyly of the 5th finger, ... ORPHA:2759
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
9Q21.13 Microdeletion Syndrome
Scoliosis, Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly, Hydronephrosis,... ORPHA:531151
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Achondrogenesis, Type Ii
Broad long bones, Absent vertebral body mineralization, Hypoplastic iliac wing, Horizontal ribs, ... OMIM:200610
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Preaxial polydactyly, Unilateral renal agenesis, Postaxial polydactyly, Bila... OMIM:618142
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Joubert Syndrome 23
Polydactyly, Dysplastic corpus callosum OMIM:616490
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Metaphyseal chondrodysplasia, Pachygyria, Narrow chest, Short palm, Cone-shaped ep... ORPHA:93317
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Hypospadias, Microcephaly, Abnormal clavicle morphology ORPHA:276422
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Polydactyly, Stage 5 chronic kidney disease OMIM:614377
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Horseshoe kidney, Pectus excavatum, Short sternum, ... OMIM:311900
Halothane Hepatitis
Obesity OMIM:234350
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the long bones, Abnor... ORPHA:2097
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Agenesis of cor... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Anencephaly, Renal dysplasia, Renal cyst, Hyd... OMIM:615287
Duane-Radial Ray Syndrome
Scoliosis, Crossed fused renal ectopia, Sandal gap, Vesicoureteral reflux, Absent radius, Spina b... OMIM:607323
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Renal cyst, Talipes equinovarus, Hydro... OMIM:612284
Cartilage-Hair Hypoplasia
Scoliosis, Narrow chest, Spinal dysraphism, Abnormality of the metaphysis, Abnormality of the rib... ORPHA:175
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Metaphyseal irregularity, Short diaphyses, Rh... OMIM:245190
Trisomy 13
Scoliosis, Multiple renal cysts, Postaxial hand polydactyly, Narrow chest, Kyphosis, Bilateral si... ORPHA:3378
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Thin ribs, Schizencephaly OMIM:615220
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Marden-Walker Syndrome
Scoliosis, Hydroureter, Metatarsus adductus, Renal hypoplasia/aplasia, Epispadias, Hydrocephalus,... ORPHA:2461
Cole-Carpenter Syndrome
Scoliosis, Abnormality of the ribs, Abnormal form of the vertebral bodies, Kyphosis, Bowing of th... ORPHA:2050
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
22Q11.2 Deletion Syndrome
Scoliosis, Talipes equinovarus, Spina bifida, Multiple renal cysts, Hand polydactyly, Renal hypop... ORPHA:567
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Abnormality o... ORPHA:1488
Senior-Loken Syndrome 9
Nephronophthisis, Polydactyly, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypo... OMIM:616629
Cerebrocostomandibular Syndrome
Scoliosis, Porencephalic cyst, Horseshoe kidney, Congenital hip dislocation, Thoracic hypoplasia,... OMIM:117650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Short neck, Femoral bowing, Micropenis, Elbow flexion contracture, Short femur... OMIM:210710
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Thoracic hypoplasia, Beaded ribs, Microcephaly, Limb undergrowth, Dec... OMIM:616897
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Narrow chest, Pectus carinatum, Ace... OMIM:225500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Adiposis Dolorosa
Obesity OMIM:103200
Genitopalatocardiac Syndrome
Scoliosis, Postaxial hand polydactyly, Kyphosis, Microcephaly, Multicystic kidney dysplasia, Hypo... ORPHA:2075
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia involving the pelvis, Multicystic kidney dysplasi... ORPHA:3301
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Lateral clavicle hook, Short femur, Anterior rib cupping, Dumbbell-... OMIM:211350
3P25.3 Microdeletion Syndrome
Scoliosis, 2-3 finger syndactyly, Abnormality of thalamus morphology, Broad thumb, Cerebral white... ORPHA:435638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Narrow chest, Hypoplastic pelvis, Renal hypoplasia, Rhizomelia, Preaxial pol... OMIM:616300
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Hypoplasia of the corpus cal... ORPHA:2519
Three M Syndrome 2
Hyperlordosis, Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Lumbar hype... OMIM:612921
Mosaic Trisomy 9
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Multiple renal cysts, Horseshoe kidney, S... ORPHA:99776
Dysosteosclerosis
Platyspondyly, Broad ribs, Narrow chest, Progressive bowing of long bones, Short diaphyses, Short... OMIM:224300
Acromelic Frontonasal Dysostosis
Polydactyly, Hypoplasia of the corpus callosum, Preaxial polydactyly, Hypopituitarism, Syndactyly... OMIM:603671
Vater/Vacterl Association
Scoliosis, Abnormality of the ribs, Hypoplasia of the radius, Spina bifida, Renal agenesis, Radio... OMIM:192350
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth, Long thorax OMIM:619142
Hyperparathyroidism, Transient Neonatal
Thin ribs, Femoral bowing, Short ribs, Narrow chest OMIM:618188
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Microcephaly, Micromelia, Hypoplasia of penis ORPHA:2772
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Renal hypop... OMIM:276950
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Short-Rib Thoracic Dysplasia 12
Narrow chest, Horizontal ribs, Anencephaly, Bowing of the legs, Short neck, Hydrocephalus, Short ... OMIM:269860
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Rhizomelia, Bowing of the long bones, Metaphyseal cuppin... ORPHA:85167
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Broad ribs, Narrow chest, Finger syndactyly, Ovoid vertebral bodies,... ORPHA:1517
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Small hand, Stenosis of the medullary cavi... ORPHA:93324
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Beaded ribs, Vertebral compression fracture, Mesomelia OMIM:616229
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplasia, Short ribs, Sh... OMIM:252600
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Preaxial hand polydactyly, Renal cyst, Syndactyly OMIM:263630
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Abnormal hip bone morphology, Hypoplasia of penis, Abnormality o... ORPHA:3068
Joubert Syndrome 35
Pectus carinatum, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosi... OMIM:618161
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Bowing of the long bones, Thin r... OMIM:613848
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, Postaxial polydactyly OMIM:600151
Retinitis Pigmentosa 71
Obesity OMIM:616394
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Penile hypospadias, Narrow chest, Abnormal form of the vertebral bodies, Abn... ORPHA:73230
Renpenning Syndrome
Abnormal thumb morphology, Pectus excavatum, Sprengel anomaly, Abnormality of the ribs, Hypospadi... ORPHA:3242
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Trisomy 20P
Scoliosis, Platyspondyly, Camptodactyly of finger, Multiple renal cysts, Preaxial hand polydactyl... ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Pectus excavatum, Cerebral atrophy, Hypoplasia of the ulna, Hypercalciuria, Renal cyst... OMIM:615398
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Thin ribs, Asymmetry of the thorax, Clinodactyly of the 3rd toe, Epiphys... OMIM:604922
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thoracolumbar scoliosis, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia OMIM:610199
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the corpus callosum, Finger s... ORPHA:1647
Cleidocranial Dysplasia
Scoliosis, Genu valgum, Abnormality of the ribs, Abnormal thumb morphology, Narrow chest, Abnorma... ORPHA:1452
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Polydactyly, Kyphosis, Short ... OMIM:169400
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Beaded ribs, Tibial bowing, Crumpled long bones, Abnormality of ... OMIM:166210
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly, Cerebral cortical atrophy, Metatarsus adductus, Hydrocephalus, Bifid ri... OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Simplified gyral pattern, Hypoplasia of the corpus callosum, Abnormal cerebral ... ORPHA:500150
Rhombencephalosynapsis
Abnormal renal morphology, Short phalanx of finger, Finger syndactyly, Polydactyly, Fusion of the... ORPHA:59315
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Mucopolysacchariduria, Ovoid vertebral bodies, Kyphosis, Abnormality of ... ORPHA:583
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Deep palmar crease, Narrow chest, Clinodactyly of the 5th fin... ORPHA:96061
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger ORPHA:231140
Hypophosphatasia
Abnormality of the metaphysis, Abnormality of the ribs, Bowing of the long bones, Narrow chest ORPHA:436
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Multiple renal cysts, Abnormal form of the vertebral bodies, Enlarge... ORPHA:464329
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Hemivertebrae, Phocomelia, Short neck, Femoral bowing, Barrel-s... OMIM:276820
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Polydactyly, Syndactyly, Hypospadias, Small placenta, Clinodactyly of the 5th finge... ORPHA:397590
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Abnormality of the metacarpal bones,... ORPHA:2538
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Alagille Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Abnormality of the ureter, Short d... ORPHA:52
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Multicystic kidney dysplasia, Fetal megacystis, Cerebral calci... ORPHA:73246
Monosomy 9Q22.3
Abnormality of the vertebral column, Polydactyly, Palmar pits, Kyphosis, Pectus excavatum, Umbili... ORPHA:77301
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Polydactyly, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Pelvic kidney, ... ORPHA:464306
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Scapular winging, Down-sloping shoulders, Clinodactyly, Renal cyst, Tapered finger OMIM:615560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Ovoid vertebral bodies, Metatarsus adductus... OMIM:271640
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Bowing of the long bones, Umbilical hernia, Thin ribs, Femoral bowing... OMIM:617952
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Postaxial polydactyly, Sacral dimple, Microcephaly, Tapered finger OMIM:613792
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Chronic kidney disease, Renal cyst, Stage 5 chronic k... ORPHA:805
X-Linked Hypophosphatemia
Genu valgum, Renal phosphate wasting, Sacroiliac joint synovitis, Flared iliac wing, Hypocalciuri... ORPHA:89936
Narcolepsy 7
Obesity OMIM:614250
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Renal insufficiency OMIM:208540
Retinal Dystrophy And Obesity
Obesity OMIM:616188
2Q37 Microdeletion Syndrome
Short neck, Toe syndactyly, Finger syndactyly, Short metacarpal, Multicystic kidney dysplasia, Um... ORPHA:1001
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Cubitus valgus, Broad ribs, Broad long bones, Megalencephaly, Flared meta... OMIM:269300
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Focal Dermal Hypoplasia
Scoliosis, Camptodactyly of finger, Spina bifida, Abnormal palmar dermatoglyphics, Horseshoe kidn... ORPHA:2092
Mullegama-Klein-Martinez Syndrome
Scoliosis, Microcephaly, Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Long penis, Microcephaly, Abnormality of the metacarpal bones, Radial deviation... OMIM:268300
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly, Hydrocephalus OMIM:219730
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Elbow dislocation, Camptodactyly, Hemivertebrae, Micropenis, Genu valgum, L... OMIM:224690
Steinfeld Syndrome
Hypoplasia of the radius, Abnormality of the vertebral column, Abnormal vertebral morphology, Hol... OMIM:184705
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly OMIM:614883
Joubert Syndrome 14
Renal cyst, Postaxial polydactyly, Hydrocephalus OMIM:614424
20P13 Microdeletion Syndrome
Finger syndactyly, Polydactyly, Clinodactyly, Microcephaly, Brachydactyly ORPHA:313781
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Abnormal diaphysis morphology, Short tubular bones of the hand, Overtubulated long bo... ORPHA:85184
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Scoliosis, Hip dysplasia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Pectus ... ORPHA:457284
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Porencephalic cyst, Horseshoe kidney, Cystic renal dysplasia, Arrhinenc...