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
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Sc... ORPHA:1988
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Abnormality of the vertebral column, Renal agenesis, U... ORPHA:294975
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Poland Syndrome
Hypoplasia of deltoid muscle, Hemivertebrae, Short ribs, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, Hydrocephalus... OMIM:617866
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Enlarged kidney, Encephalocele, Narrow chest, Polycystic ki... OMIM:613885
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Thoracic hypoplasia, ... OMIM:613091
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M... ORPHA:66637
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Spin... ORPHA:2311
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Hydrocephalus, Sh... OMIM:613686
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Sho... ORPHA:474
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Narrow chest, Polycystic kidney dysplasia, Short long bone, Flat acetab... OMIM:614091
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Narrow chest, Scoliosis, Short long bone, Brachydactyly, Hepatic cysts, Stage 5 chro... OMIM:613819
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Lateral ventricle dilatation, Butterfly vert... OMIM:611209
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfly vertebrae, Hypopla... OMIM:200980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot... OMIM:263520
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly... ORPHA:2091
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Urinary incontinence, Genu valgum, Sandal gap, Single transverse palmar cre... OMIM:617927
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Platyspondyly ORPHA:168555
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Abnormal vertebral morphology, Genu valgum, Delayed epiphyseal ossificatio... ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Absent vertebra, Syndacty... OMIM:134780
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Joubert Syndrome 18
Kyphoscoliosis, Occipital encephalocele, Bowing of the long bones, Renal cyst, Camptodactyly, Pos... OMIM:614815
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Nephronophthisis 20
Nephronophthisis, Scoliosis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, R... OMIM:617271
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus, Polycystic kidney dysplasia, Shor... OMIM:616546
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Bardet-Biedl Syndrome 16
Polydactyly, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal i... OMIM:615993
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Hypospadias, A... ORPHA:2319
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Scoliosis, Abnormal sternu... ORPHA:314588
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Rib fusion, Hydronephrosis, Block ... OMIM:271520
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Hypoplastic pelvis,... ORPHA:750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivert... ORPHA:377
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu... OMIM:602111
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele, Abnormality of the urinary system OMIM:213010
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ... ORPHA:1507
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Pectus carinatum, Pectus excavatum, Epiphyseal dysplasia, Clinodactyly,... OMIM:607131
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Rib fusion, Multicystic kidney dysplasia ORPHA:261197
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... OMIM:265000
Trisomy 17P
Clinodactyly of the 5th finger, Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, ... ORPHA:261290
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Polycystic kidney dysplasia, Short long bone, Metaphyseal widening,... OMIM:263210
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Kbg Syndrome
Epispadias, Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar ... OMIM:148050
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Encephalocele, Renal cyst OMIM:614465
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad th... ORPHA:65759
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Meckel Syndrome, Type 9
Occipital encephalocele, Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Hypospadias, Anencephaly, Postaxial hand polydactyly, Ren... OMIM:614175
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th... OMIM:269250
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Encephalocele, Scoliosis, Postaxial hand polydactyly, Renal cyst, ... OMIM:611560
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Scoliosis, Delayed ossifi... OMIM:618395
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hydrocephalus, Hypopla... OMIM:300863
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Vertebral segmentation defect, Abnormal rib morphology, Renal agenesis, Renal dys... ORPHA:2578
Meckel Syndrome 14
Occipital encephalocele, Polycystic kidney dysplasia, Postaxial hand polydactyly, Bowing of the l... OMIM:619879
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Col... OMIM:210710
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones OMIM:211890
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Partial duplicat... OMIM:617926
Obesity And Hypopigmentation
Obesity, Overgrowth OMIM:620195
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Unilateral renal agenesis, Narrow chest, ... OMIM:213980
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Joubert Syndrome 39
Postaxial polydactyly, Polycystic kidney dysplasia, Occipital encephalocele, Joint contracture of... OMIM:619562
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Pectus carina... ORPHA:3082
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Poland Syndrome
Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia, Asymmetry of the thorax, Abnorm... ORPHA:2911
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Hypoplasia of penis, Finger syndactyly, Abnormal sternum morphology, Scolio... ORPHA:2990
Sillence Syndrome
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Renal cyst, Epiphyseal stippling OMIM:614870
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Verteb... ORPHA:1834
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Preaxial hand polydactyly, Renal hypoplasia, Thoracolumbar scoliosis, Spren... OMIM:601389
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology... ORPHA:2522
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Scoliosis, Vesicoureteral reflux, Abnorma... DECIPHER:81
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Hydrocephalus, Scoliosis, Pectus excavatum, Postaxial polydactyly, Bro... OMIM:616362
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Multicystic kidn... OMIM:607361
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Sacral dimple, Abnormal vertebral morphology, Hypospadias, Hypoplastic... ORPHA:280
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Short neck, Kyphosis, Hip dislocation OMIM:608776
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Lumbosacral meningocele, Hammertoe, Talipes eq... OMIM:608022
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Narrow che... ORPHA:1190
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal... OMIM:611561
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Platyspondyly, Multip... OMIM:259440
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia... ORPHA:1318
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Hajdu-Cheney Syndrome
Kyphoscoliosis, Genu valgum, Fibular bowing, Hypospadias, Vertebral compression fracture, Osteoly... OMIM:102500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Lateral v... ORPHA:544488
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Spina b... OMIM:304050
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Scoliosis,... OMIM:118100
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Tapered toe, Long-chain dicarboxylic aciduria, Polycystic ... OMIM:608836
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Pectus excavatum, Radioulnar synostosis ORPHA:3270
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... OMIM:602557
Robinow Syndrome
Kyphoscoliosis, Fused thoracic vertebrae, Mesomelic arm shortening, Multicystic kidney dysplasia,... ORPHA:97360
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... OMIM:603194
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Abnormal rib morphology, Hydronephrosi... ORPHA:195
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Fibular overgrowth, Abnormal vertebral morphology, Vertebral compressi... ORPHA:93352
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebrae, Abnor... ORPHA:2180
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Hypospadias, Narrow chest, Hypoplasia of penis, Abnor... ORPHA:1703
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Myelomeningocele... ORPHA:2876
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Thin ribs, Short ribs, Sh... ORPHA:3404
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Colpocephaly, Abnormal 5th metaca... ORPHA:397715
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hypospadias, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerar... OMIM:206900
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt... OMIM:615994
Verheij Syndrome
Scoliosis, Hemivertebrae, Short 5th finger, Renal cyst, Renal agenesis, Renal hypoplasia, Clinoda... OMIM:615583
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block v... ORPHA:50
Acrodysplasia Scoliosis
Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B... OMIM:272460
Rhyns Syndrome
Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Abnormal acet... ORPHA:140976
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Hydronephrosis, Mesoaxial hand pol... OMIM:615996
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cubitus valgus, Polycystic kidney dysplasia, Single transverse palmar crease, Camptodactyly, Meta... OMIM:214110
Radio-Renal Syndrome
Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Abnorm... ORPHA:3015
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... OMIM:615503
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Constricted iliac wing, Coxa valga, Cervical sublux... OMIM:253010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, F... OMIM:300232
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal metacarpal m... ORPHA:3258
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Umbilical hernia, Short neck, Sh... ORPHA:93298
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Hyperlordosis, Scapular winging, Ethylmalonic aci... ORPHA:26791
Vacterl/Vater Association
Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal intervertebra... ORPHA:887
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Short thorax, Pectus carinatum, Scoliosis, Hyperlord... ORPHA:582
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Broad distal phalanx of finger, Hypospadias, Sandal gap, Scoliosis, Hyperlordosis,... OMIM:615761
Floating-Harbor Syndrome
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenital posterior ... ORPHA:2044
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Mosaic Trisomy 1
Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Lateral ventricle dilatation, Long toe, Deviat... ORPHA:1692
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipes equinovarus, Vertebral segmentation defe... ORPHA:263508
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Hydrocephalus, Polycystic kidney dysplasia, Short 2nd to... OMIM:311200
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ... OMIM:615986
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of penis, Hemivertebrae, Abnormal rib morpholog... ORPHA:2234
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Radial deviation of finger, Anencephaly, Hydrocephalus, ... OMIM:249000
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb... OMIM:109400
Say Syndrome
Ulnar deviation of the 3rd finger, Proximal renal tubular acidosis, Short distal phalanx of finge... OMIM:181180
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hip dislocation, Sacral dimple, Hypospadias, Hyd... OMIM:194190
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... ORPHA:157
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Abnormality of the kidney, Fibular aplasia, Fused cervical vertebrae, Clinodactyly... ORPHA:3320
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly, Nephronophthisis, Micropenis OMIM:614464
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metap... ORPHA:163966
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Hydronephrosis, Absent thumb, ... OMIM:613390
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Otopalatodigital Syndrome Type 2
Myelomeningocele, Flared iliac wing, Fibular aplasia, Tarsal synostosis, Hypospadias, Encephaloce... ORPHA:90652
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias ORPHA:141333
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Renal hypoplasia/aplasia, Abnormal form of the vertebral... ORPHA:1788
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent thumb, Syndactyly... OMIM:607323
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Fibular bowing, Hypospadias, Hydrocephalu... OMIM:612651
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Renal hypoplasia/aplasia, ... ORPHA:958
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Postaxial hand polydactyly, Cong... OMIM:236700
Orofaciodigital Syndrome Type 10
Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh... ORPHA:2756
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormality of the upper urinary tract, Micromelia, Abnormal rib m... ORPHA:2145
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Sacral dimple, Clinodactyly of the 5th finger, Polycystic kidney dyspl... OMIM:606232
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Scoliosis, Short long bone, Metaphys... ORPHA:85167
Adiposis Dolorosa
Obesity OMIM:103200
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc... OMIM:200600
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the... OMIM:611134
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Hypoplastic vertebral bodies, Mesomelia, Thoracic ... OMIM:215140
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti... ORPHA:228308
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Polycystic kidney dysplasia, Weakness of long finger extensor muscles, S... ORPHA:35125
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachy... OMIM:258860
Achondrogenesis Type 1A
Narrow chest, Short thorax, Micromelia, Short palm, Multiple rib fractures, Umbilical hernia, Sho... ORPHA:93299
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cubitus valgus, Hypospadias, Epiphyseal stippling, Polycystic kidney dysplasia, Single transverse... OMIM:614866
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Postaxial polydactyly OMIM:615985
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... ORPHA:2759
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Meningocele, Scoliosis, Pectus excavatum, Kyphosis, Hydronephrosis, Ha... OMIM:620511
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Hypospadias, Renal cyst, Syndactyly OMIM:605231
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Abnormal hip bone morphology, Vertebral segmentation defect, Vesicouret... ORPHA:1166
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
1P36 Deletion Syndrome
Abnormality of the kidney, Bifid ribs, Clinodactyly of the 5th finger, Hypospadias, 11 pairs of r... ORPHA:1606
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Abnormality of the vertebral column, Abnormal rib morp... OMIM:601076
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Proximal tubulopathy, Nephropathy, Multiple renal cys... ORPHA:3033
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Trisomy 1Q
Congenital megaureter, Hydrocephalus, Short thorax, Abnormal rib morphology, Arachnodactyly, Camp... ORPHA:261344
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Grant Syndrome
Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp... ORPHA:2097
Distal Deletion 12Q
Kyphoscoliosis, Clinodactyly of the 5th finger, Ectopic kidney, Polycystic kidney dysplasia, 2-3 ... ORPHA:96149
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Hypoplastic iliac wing, Pectus carinatum, Tibial bowing, Short long bo... ORPHA:93315
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... ORPHA:175
Pallister-Hall Syndrome
Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... ORPHA:672
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic girdle bone mo... OMIM:166210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Polydactyly, Syndactyly, Hydrocephalus OMIM:602501
Trisomy 13
Bilateral single transverse palmar creases, Narrow chest, Scoliosis, Postaxial hand polydactyly, ... ORPHA:3378
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Zttk Syndrome
Dysplastic corpus callosum, Polyuria, Unilateral renal agenesis, Scoliosis, Hemivertebrae, Short ... OMIM:617140
Trisomy X
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Multic... ORPHA:3375
Polysyndactyly With Cardiac Malformation
Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cysts OMIM:263630
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Syndactyly, Absent radius, ... OMIM:192350
Cornelia De Lange Syndrome 6
Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Arachnodactyly, Short palm, Posterio... OMIM:620568
Holzgreve Syndrome
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal... ORPHA:2167
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, F... OMIM:211350
Harrod Syndrome
Abnormal shoulder morphology, Hypospadias, Scoliosis, Abnormal pelvic girdle bone morphology, Kyp... ORPHA:2115
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... OMIM:620076
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, Iliac crest s... ORPHA:93317
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Short ribs, Cystic renal dysplasia, Short finger, Hydrocephalus, Sh... OMIM:269860
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly ORPHA:2643
Osteogenesis Imperfecta, Type X
Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Narrow chest, Scoliosis,... OMIM:613848
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Cooper-Jabs Syndrome
Proximal placement of thumb, Abnormal hip bone morphology, Scoliosis, Abnormal rib morphology, Mi... ORPHA:1488
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebra... OMIM:276950
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Vesicoureteral ref... OMIM:157800
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Long thorax, Genu valgum, Limb undergrowth OMIM:619142
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Aplasia of the bladder,... OMIM:612284
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology OMIM:602196
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Posterior rib g... ORPHA:1393
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the pelvis, Abnormal r... ORPHA:3301
Ellis-Van Creveld Syndrome
Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, ... OMIM:225500
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Abnormal scapula morphol... ORPHA:464329
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Broad thumb, Ar... OMIM:619721
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Metaphyseal irregularity, Short finger, Rhizomelia, Flared metaphys... OMIM:608940
Bardet-Biedl Syndrome 12
Polydactyly, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Postaxial foot polydactyly,... OMIM:615989
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
9Q21.13 Microdeletion Syndrome
Polydactyly, Scoliosis, Vertebral segmentation defect, Hydronephrosis, Hip dysplasia ORPHA:531151
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Short 5th finger, Hyperlordosis, Scapular wing... OMIM:612921
Braddock-Carey Syndrome 1
Hyperlordosis, Camptodactyly, Agenesis of corpus callosum, Multicystic kidney dysplasia, Clinodac... OMIM:619980
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavat... ORPHA:2461
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal diaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Slender long ... ORPHA:73230
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Hydrocephalus, Polycystic kidney dysplasia, Scoliosis, Vesicoureteral r... ORPHA:567
Immunodeficiency 61
Obesity OMIM:300310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypospadias, Hypoplastic ischia OMIM:616910
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Cantú Syndrome
Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Short distal phala... ORPHA:1517
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Micropenis OMIM:245800
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Hydrocephalus, Postaxial polydactyly, Hyperechogenic kidneys, Renal i... OMIM:219730
Senior-Loken Syndrome 9
Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu... OMIM:616629
Joubert Syndrome 35
Recurrent urinary tract infections, Single transverse palmar crease, Pectus carinatum, Renal fibr... OMIM:618161
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Kyphosis, Short 3rd metacarpal, Umbili... OMIM:169400
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormal hip bone morphology, Abnormal form of the verteb... ORPHA:261318
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Joubert Syndrome 17
Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology ORPHA:276422
Mosaic Trisomy 9
Rocker bottom foot, Deep palmar crease, Hypoplasia of penis, Scoliosis, Hemivertebrae, Elbow disl... ORPHA:99776
Isolated Polycystic Liver Disease
Back pain, Multiple renal cysts ORPHA:2924
Senior-Loken Syndrome 8
Polydactyly, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulo... OMIM:616307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Ovoid vertebral bodies, Slender metacarpals, Platyspo... OMIM:620601
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Joubert Syndrome 27
Polydactyly, Dilatation of the renal pelvis OMIM:617120
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short long bone, Split hand, Short ribs, Ky... OMIM:252600
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated humerus, Short long bone, Bow... OMIM:616229
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger ORPHA:231140
Hypophosphatasia
Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long bones, Narrow chest ORPHA:436
Septooptic Dysplasia
Polydactyly, Short finger, Agenesis of corpus callosum OMIM:182230
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis, Vertebral segmentati... ORPHA:96061
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Scoliosis, Postaxial hand polydactyly, Kyphosis, Brachydactyly, Multi... ORPHA:2075
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Renal cyst, Thoracolumbar scoliosis, Umbilical hernia, Pancreatic cysts OMIM:610199
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Clinodactyly of the 5th finger, Ectopic kidney, Hypospadias, 11 pairs of ribs, Hydroc... OMIM:607872
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
3P25.3 Microdeletion Syndrome
Sacral dimple, Proximal placement of thumb, Scoliosis, Broad thumb, Postaxial polydactyly, Broad ... ORPHA:435638
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Tapered finger, Scapular winging, Renal cyst, Clinodactyly, Down-sloping shoulders OMIM:615560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Clinodactyly of the 5th finger, Ectopic kidney, 10 pairs of... OMIM:117650
Ogden Syndrome
Enlarged kidney, Clinodactyly of the 5th finger, Sandal gap, Polycystic kidney dysplasia, Scolios... OMIM:300855
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Ureteral atresia, Renal dysplasia... OMIM:208540
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Achondrogenesis, Type Ii
Short tubular bones of the hand, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Sh... OMIM:200610
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Hypospadias, Clinodactyly of the 5th finger, Ectrodactyly, Microphal... ORPHA:397590
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Mucopolysacchariduria, Epiphyseal dysplasi... ORPHA:583
C Syndrome
Radial deviation of finger, Renal cortical cysts, Dislocated radial head, Scoliosis, Postaxial ha... OMIM:211750
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Hypospadias, Pectus excavatum, Abnorma... ORPHA:3242
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, ... ORPHA:93324
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnor... OMIM:314390
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Finger syndactyly, Short clavicles, Scoliosis, Short ribs, Split hand, ... ORPHA:2092
Alagille Syndrome
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Butterfly verte... ORPHA:52
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Postaxial ha... OMIM:216360
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing,... OMIM:253200
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Hypoplasia of penis, Pectus carinat... ORPHA:3068
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met... OMIM:600920
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... ORPHA:1001
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Abnormal rib morphology, Hypoplasia of penis ORPHA:2772
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Kyphoscoliosis, Cervical ribs, Unilateral renal agenesis, Slender lon... ORPHA:500150
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Postaxial polydactyly, Kyphosis, Thoracic scoliosis OMIM:603387
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Horseshoe kidney, Single transv... OMIM:311900
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyl... ORPHA:2538
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
X-Linked Hypophosphatemia
Vertebral hyperostosis, Genu valgum, Enlargement of the costochondral junction, Renal phosphate w... ORPHA:89936
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Mic... ORPHA:2519
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A... OMIM:268300
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bones, Broad f... ORPHA:85184
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Hydroureter, Hypercalciuria, Scoliosis, Pectus excavatum, Renal cyst, Ure... OMIM:615398
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Hydrocephalus,... ORPHA:77298
Monosomy 9Q22.3
Polydactyly, Palmar pits, Abnormality of the vertebral column, Hydrocephalus, Pectus excavatum, K... ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Pectus excavatum, Broad thumb, Umbilical hernia, Hypos... ORPHA:373
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Single transverse palmar ... OMIM:619297
Oculocerebrocutaneous Syndrome
Hydrocephalus, Finger syndactyly, Abnormal rib morphology, Congenital hip dislocation, Missing ri... ORPHA:1647
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Hydronephrosis, Brachydactyly, Clinodactyly OMIM:618950
Cornelia De Lange Syndrome 1
Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, H... OMIM:122470
Osteogenesis Imperfecta, Type Iii
Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconcave vertebral bodies, Pro... OMIM:259420
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Abnormal renal morphology, Postaxial polydactyly, Overlapping toe, Tapered finger OMIM:613792
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly ORPHA:313781
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Narrow chest, Thin ribs, Femoral bowing, Short long b... OMIM:618188
Antley-Bixler Syndrome
Narrow chest, Abnormal renal morphology, Femoral bowing, Abnormal rib morphology, Camptodactyly o... ORPHA:83
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Sco... OMIM:610915
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Single transverse palmar crease, Prominent sternum, Wrist flexion contracture, Ca... ORPHA:254528
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Fetal megacystis, Arachnodactyly, Short palm, Toe syndactyly, Multicystic kidn... ORPHA:73246
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Limited elbow movement, Clubb... ORPHA:221120
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis,... OMIM:120330
Cranioectodermal Dysplasia 3
Nephronophthisis, Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, Postaxial polydactyly... OMIM:614099
Gracile Bone Dysplasia
Slender long bone, Hydrocephalus, Flared metaphysis, Thin ribs, Brachydactyly, Micropenis OMIM:602361
Rhombencephalosynapsis
Polydactyly, Hydrocephalus, Abnormal renal morphology, Finger syndactyly, Short phalanx of finger... ORPHA:59315
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Noncomm... ORPHA:805
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Tarsal synostosis, Abnormal metacarpal morphology, Glandular hypospadia... ORPHA:2473
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypospadias, Acromesomeli... ORPHA:464306
Joubert Syndrome 37
Postaxial polydactyly, Hydronephrosis, Micropenis, Lumbar hyperlordosis OMIM:619185
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Hypospadias ORPHA:544254
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Hydrocephalus, Scoliosis, Pectus excav... ORPHA:457284
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Ectopic kidney, Hypospadias, Horseshoe kidney, Madelung deformity, Enuresis noctu... OMIM:301111
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Unilateral renal... OMIM:184705
2P15P16.1 Microdeletion Syndrome
Bilateral single transverse palmar creases, Sandal gap, Scoliosis, Enlarged thorax, Pectus excava... ORPHA:261349
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified... ORPHA:800
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Renal cyst, Postaxial polydactyly OMIM:614424
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b... ORPHA:2769
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short thorax, Short long bone, Short ribs, Enl... ORPHA:3003
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Coxa valga, Genu varum, Hemivertebrae,... OMIM:224690
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Long toe, Upper limb undergrowth, Recurrent urinary tract infections, ... OMIM:614527
Constricting Bands, Congenital
Encephalocele, Scoliosis, Hand polydactyly, Syndactyly, Bladder exstrophy, Abnormal rib cage morp... OMIM:217100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Long palm, Scoliosis, Pectus excavatum, Kyphosis, Hemiatrophy, Metatarsus addu... ORPHA:2215
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Hypospadias, Proximal placement of thumb, Single transv... OMIM:229850
Legius Syndrome
Polydactyly, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Nephrolithia... ORPHA:137605
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... ORPHA:93473
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Th... ORPHA:488434
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Renal agenesis, Increased urine alpha-ketogl... OMIM:220500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Hypo... ORPHA:93271
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Hydrocephalus, Renal cyst, Short sternum, Micropenis, Agenesis of corpus callosum, N... OMIM:257300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Scoliosis, Short foot, Renal cyst, Kyphosi... ORPHA:464311
Tarp Syndrome
Rocker bottom foot, Horseshoe kidney, Finger syndactyly, Single transverse palmar crease, Scolios... ORPHA:2886
Retinitis Pigmentosa 89