Gene Summary

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
Nac1,  4930511N13Rik,  2010001H03Rik,  Btbd14b

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Nacc1em1(IMPC)Hmgu HOM Early adult 1.52×10-05
short tibia Nacc1em1(IMPC)Hmgu HOM Early adult 1.30×10-05
absent vibrissae Nacc1em1(IMPC)Hmgu HOM Early adult 2.73×10-14
decreased total retina thickness Nacc1em1(IMPC)Hmgu HOM Early adult 1.37×10-11
polycystic kidney Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
hydrometra Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
decreased grip strength Nacc1em1(IMPC)Hmgu HOM Early adult 1.38×10-05
decreased bone mineral content Nacc1em1(IMPC)Hmgu HOM Early adult 5.95×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

8 Images


XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Nacc1 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 Nacc1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Flexion contracture OMIM:617393
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Scoliosis, Flexion contracture ORPHA:500545

The table below shows human diseases predicted to be associated to Nacc1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Retinal dystrophy, Syndactyly, Renal cyst, Hypospadias,... OMIM:605231
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Polydactyly, Retinal dystrophy, Renal cyst, Renal insufficiency, Hypog... OMIM:615987
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Abnormality of the ... ORPHA:3268
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Femoral-Facial Syndrome
Hip dysplasia, Cryptorchidism, Talipes equinovarus, Maternal diabetes, Short femur, Long penis, R... ORPHA:1988
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Bardet-Biedl Syndrome 16
Renal insufficiency, Rod-cone dystrophy, External genital hypoplasia, Retinal degeneration, Renal... OMIM:615993
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism, Abnormality of the cer... OMIM:307500
Bardet-Biedl Syndrome 4
Cryptorchidism, Rod-cone dystrophy, Polydactyly, External genital hypoplasia, Retinal degeneratio... OMIM:615982
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Odontochondrodysplasia 1
Osteoporosis, Nephronophthisis, Short phalanx of finger, Flared iliac wing, Genu recurvatum, Dela... OMIM:184260
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hy... OMIM:612447
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Vertebral segmentation defect, Sacral dimple OMIM:618845
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, Ab... ORPHA:1505
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Ring Chromosome 21 Syndrome
Scoliosis, Infertility, Azoospermia, Amenorrhea, Abnormal thorax morphology, Fused thoracic verte... ORPHA:1445
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Brachyolmia Type 2
Platyspondyly OMIM:613678
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
Meckel Syndrome 13
Micrognathia, Retinopathy, Polycystic kidney dysplasia OMIM:617562
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Osteogenesis Imperfecta, Type Vi
Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility t... OMIM:613982
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Decreased calvarial ossifica... OMIM:259440
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Polycyst... OMIM:617866
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Femoral bowing, Absent tibia, Talipes equinovarus, Enlarged kidney, Preaxial... OMIM:613091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Posta... OMIM:614091
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Pectus carinatum, Pectus excavatum, Recurrent fractures, O... OMIM:301014
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Decreased fertility, Hemivertebrae, Abnormality of the rib... ORPHA:2234
Tibial Hemimelia
Radial club hand, Cryptorchidism, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal bones, Abnormal t... OMIM:102510
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Short tibia, Ulnar bowing, Nephritis OMIM:127350
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Polydactyly, External genital hypoplasia, Retinal degeneration, Cone/cone-... OMIM:615994
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Abnormal acetabulum morp... ORPHA:140976
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Rod-cone dystrophy, Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal atresia, ... ORPHA:2237
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Osteochondrosis, Hamstring contra... ORPHA:96183
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Synostosis of carpal bones, Abnormali... ORPHA:1836
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Short long bone, Bicornuate uterus, Polycystic kidney dysplasia, D... OMIM:263210
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoplasia of the radius, Short femur, Talipes equinovarus, Rhizomelia, Scrotal h... OMIM:607143
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Ovoid vertebral bodies, Osteoporotic tarsals, Flat acetabular ro... OMIM:609052
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Reduced sperm motility, Thoracic hypoplasia OMIM:602271
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Acrorenal-Mandibular Syndrome
Split hand, Bicornuate uterus, Micrognathia, Hypoplasia of the radius, Rudimentary fibula, Abnorm... OMIM:200980
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, Lumbar hyperlordosis, Vertebral fusion, But... ORPHA:313892
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Delayed skeletal maturation, Vert... OMIM:148050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Short thorax, Accelerated skeletal maturation, Genu valgum, Coronal cle... OMIM:618363
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:312150
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria, Retinal vascular tortuosity ORPHA:73229
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Thin ribs,... OMIM:253290
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Gorlin Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Vertebral wedging ORPHA:377
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Mckusick-Kaufman Syndrome
Cryptorchidism, Postaxial hand polydactyly, Congenital hip dislocation, Transverse vaginal septum... OMIM:236700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, External genital hypoplasia, Hydronephrosis, Renal cyst... OMIM:613390
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Cervical rib... ORPHA:2332
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Thoracolaryngopelvic Dysplasia
Scoliosis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-shaped thorax, Irregu... OMIM:187760
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Carpa... OMIM:618395
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Osteoporos... OMIM:601559
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Narrow chest, Pectus carinatum, Pectus excavatum, Hemivertebrae, Vertebral fus... OMIM:263540
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Meckel Syndrome, Type 9
Talipes equinovarus, Ambiguous genitalia, Limb undergrowth, Multicystic kidney dysplasia OMIM:614209
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Stillbir... OMIM:269250
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Talipes equinovarus, Pigmentary retinopathy, Camptodactyly, Aminoaciduria, Metata... OMIM:214110
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Genu valgum, Synostosis of carpal bones, Pectus carinatum, Abnormal ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Pectus carinatum, Capita... OMIM:271650
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism,... OMIM:206900
Camptodactyly of finger, Abnormal renal morphology, Craniosynostosis, Abnormality of long bone mo... ORPHA:356961
Kniest Dysplasia
Platyspondyly, Short thorax, Enlarged joints, Flexion contracture of finger, Arthropathy, Coronal... ORPHA:485
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fibular aplasia, Horseshoe kidney, Broad thumb, Finger syndactyly, Add... ORPHA:3320
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Limited elbow extension, Dislocated radial head, Joint laxity, Abnormal... ORPHA:93359
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Retinal coloboma, Chorioretinal atrophy, M... OMIM:120330
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, ... ORPHA:1106
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300009
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Polycystic kidney dysplasia, Retinal dystrophy OMIM:263100
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
Joubert Syndrome 20
Abnormal retinal morphology, Postaxial polydactyly, Syndactyly, Renal cyst, Retinopathy OMIM:614970
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Hypoplasia of the uterus, Oste... OMIM:615363
Roberts Syndrome
Cryptorchidism, Craniosynostosis, Sandal gap, Phocomelia, Clitoral hypertrophy, Complete duplicat... ORPHA:3103
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs OMIM:619122
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300554
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormality... ORPHA:1486
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Neonatal death, Sma... OMIM:187601
Femoral-Facial Syndrome
Cryptorchidism, Short fifth metatarsal, Abnormal renal collecting system morphology, Micrognathia... OMIM:134780
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Distal Tetrasomy 15Q
Hydrocele testis, Craniosynostosis, Horseshoe kidney, Camptodactyly, Arachnodactyly, Nephroblasto... ORPHA:314588
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyper... OMIM:608728
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Decreased cranial base ossification, Severe platyspondy... OMIM:151210
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphysis, Nephropathy, ... OMIM:266920
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Tapered toe, Nonketotic hypoglycemia, Hydronephrosis, Polycystic kidney dysplasi... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Trisomy 17P
Talipes, Urethral valve, Micrognathia, High anterior hairline, Broad eyebrow, Urethral stenosis, ... ORPHA:261290
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Decreased skull ossification, Abnormal... ORPHA:93267
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle tissue, Ectop... ORPHA:337
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Beaking of vertebral bodies, Delayed... OMIM:609616
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Campomelia, Cumming Type
Bowing of the long bones, Polycystic kidney dysplasia OMIM:211890
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Pectus excav... OMIM:130720
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Pectus excavatum, Abnormality o... ORPHA:915
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Hypogly... OMIM:231680
Frontometaphyseal Dysplasia 1
Scoliosis, Camptodactyly of finger, Genu valgum, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614870
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand ... OMIM:263520
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Rib fusion, Carpal syn... OMIM:157800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chr... OMIM:613095
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Renal cyst, Retinal dystrophy OMIM:614465
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Delayed pubic bone ossification, Anterior rib cupping, G... OMIM:184250
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Stillbirth, Barrel-shaped chest, Hy... OMIM:200600
Congenital Disorder Of Glycosylation, Type Il
Hip dislocation, Polycystic kidney dysplasia OMIM:608776
Ulbright-Hodes Syndrome
Cryptorchidism, Phocomelia, Clitoral hypertrophy, Micrognathia, Abnormal external genitalia, Hypo... ORPHA:3404
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared ... OMIM:609945
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe... ORPHA:2378
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cervical vertebrae,... ORPHA:628
Arima Syndrome
Nephronophthisis, Chorioretinal coloboma, Postaxial hand polydactyly, Tubulointerstitial fibrosis... OMIM:243910
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Delayed skeletal maturation, Cupped ribs, Thoracic hypoplasia ORPHA:168549
Renal Cysts And Diabetes Syndrome
Impaired glucose tolerance, Bicornuate uterus, Abnormality of the kidney, Abnormal renal morpholo... OMIM:137920
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Mesomelia, Hypoplasia of the ulna, Syndactyly, Renal cyst, Micrognathia OMIM:228940
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormal vertebral morphology, Abnormality of the elbow, Abnorm... ORPHA:2319
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
White Forelock With Malformations
Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Delayed ... ORPHA:2475
15q26 overgrowth syndrome
Camptodactyly of finger, Abnormality of toe, Craniosynostosis, Horseshoe kidney, Abnormality of f... DECIPHER:81
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Hypoplasia of the odontoid process, Spina bifida occulta at S1, Abnormal vertebral mor... OMIM:601829
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Genu valgum, Pectus carinatum, Joint hyper... ORPHA:582
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly, Hypo... OMIM:617925
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Craniosynostosis, Horseshoe kidney, Sparse hair, Sparse eyebrow, Metaphyseal chondrodysplasia, Hi... OMIM:250410
Becker Nevus Syndrome
Scoliosis, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occulta, Supern... ORPHA:64755
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Genu varum... OMIM:171480
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Azoospermia, Abnormality of the vertebral column OMIM:601076
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Abnormal sternum morphology, Sprengel anomaly, D... OMIM:109400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Broad ribs, Joint swelling, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Scapular winging, Tarsal synostosis, Pectus ca... OMIM:272460
Satoyoshi Syndrome
Abnormality of the knee, Abnormality of the ovary, Abnormality of the uterus, Abnormality of femu... ORPHA:3130
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Distal renal tubular acidosis, Unilateral renal dysplasia, Rena... OMIM:146255
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Overlapping toe, Micrognathia, Short middle phalanx of fing... ORPHA:96149
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Abnormality of the ribs, Short neck ORPHA:93298
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Kyphosis... ORPHA:2311
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Congenital hip dislocation, Renal... OMIM:113650
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Recurrent fractures... OMIM:617952
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Decreased calvarial os... OMIM:259420
Achondrogenesis, Type Ii
Stillbirth, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Barrel-shaped chest OMIM:200610
Say Syndrome
Cystic renal dysplasia, Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Osteolysis, Dela... OMIM:614008
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Limited elbow extension, Short thorax, Genu valgum, Abno... ORPHA:239
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:157
Scoliosis, Platyspondyly, Limited elbow extension, Limited hip extension, Irregular carpal bones,... OMIM:177170
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Mosaic Trisomy 20
Scoliosis, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Vertebr... ORPHA:1724
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Joint laxity, Abnorma... ORPHA:93352
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Prominent sternum, Joint laxity, Genu valg... OMIM:253000
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Beaded ribs, Recurrent fractures, Absent ossification of calvaria, ... OMIM:166210
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Microretrognathia, 2-3 toe syndactyly, Renal dysplasia, Renal cyst, Cutaneous s... OMIM:236500
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Pes planus, Hypoplasia of the uterus, Alopecia universalis, Alopec... OMIM:600705
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Limited elbow extension, Irregular sclerotic endplates, Flared, irregular rib ends... OMIM:602111
Orofaciodigital Syndrome I
Ovarian cyst, Sparse hair, Polydactyly, Microretrognathia, Radial deviation of finger, Clinodacty... OMIM:311200
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Phelan-Mcdermid Syndrome
2-3 toe syndactyly, Long eyelashes, Large hands, Clinodactyly of the 5th finger, Thick eyebrow, V... OMIM:606232
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Hypoglycemia, Polycystic kidney dys... ORPHA:26791
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Polycystic kidney dysplasia, Sagittal craniosynostosis, Osteopenia, Diabetes mellitus OMIM:610199
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Floating-Harbor Syndrome
Cryptorchidism, Broad fingertip, Short clavicles, Short thumb, Precocious puberty, Hip dysplasia,... ORPHA:2044
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Hypoplasia of the bladder, Recurrent urinary tract infections, Ureteral atresia, ... OMIM:614527
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Craniosynostosis, Horseshoe kidney, Absent eyelashes, Metaphyseal chondrodysplasi... ORPHA:166035
Hemangiomatosis, Cutaneous, With Associated Features
Joint hyperflexibility, Joint laxity, Abnormality of the vertebral column, Abnormal vertebral mor... OMIM:234800
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Osteoporosis, Prominent sternum, Joint laxity, Genu valg... OMIM:253010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hypoketotic hypoglyce... ORPHA:228308
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Postaxial hand polydactyly, Hypoplasia of the bladder,... OMIM:249000
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, Hip dislocation,... ORPHA:96169
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Radioulnar synostosis, Kyphosis, Pectus excavatum, Spren... ORPHA:392
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:2876
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Abnormality of the ribs, Osteopenia, Short neck, Vertebral segmentation... OMIM:611209
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Delayed skeletal maturation, Abnormality of the ribs, Limitation... ORPHA:3068
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic... OMIM:307800
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Renal dysplasia, Optic nerve dysplasia, Renal cyst, Hydronephrosis, Decreased ... OMIM:615287
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Atelosteogenesis, Type I
Coronal cleft vertebrae, Narrow chest, Elbow dislocation, Stillbirth, Thoracic platyspondyly, Neo... OMIM:108720
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Dyggve-Melchior-Clausen Disease
Scoliosis, Shield chest, Thoracic kyphosis, Camptodactyly, Carpal bone hypoplasia, Flat acetabula... OMIM:223800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Cone-shaped epiphyses of the... OMIM:208500
Bardet-Biedl Syndrome
Cryptorchidism, Postaxial hand polydactyly, Medial flaring of the eyebrow, Pigmentary retinopathy... ORPHA:110
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Decreased testicular size, Hypoplasia of the uterus, Hypogonadotropi... OMIM:614837
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Renal phosphate wasting, Enlargement of the ankles, Metaphysea... OMIM:241530
Prune Belly Syndrome
Scoliosis, Congenital hip dislocation, Pectus excavatum, Abnormality of the ribs, Decreased ferti... ORPHA:2970
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia, Craniosynostosis OMIM:218550
Acrofacial Dysostosis, Rodríguez Type
Talipes equinovarus, Abnormality of the uterus, Radioulnar synostosis, Finger syndactyly, Microre... ORPHA:1788
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Joint laxity, Narrow chest, Generalized joint laxity, Broa... OMIM:613848
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibility, Delayed cranial sut... ORPHA:2484
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Micro... OMIM:266810
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia OMIM:615633
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wormian bones, Joint laxity, Kyphosis, Recurrent fractures, Thin ribs, ... OMIM:610915
Omodysplasia 1
Cryptorchidism, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Lim... OMIM:258315
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Nephropathy, Renal cyst, Renal insufficiency, Retinal arteriolar tortuosity, Retinal h... OMIM:611773
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Stillbirth, Thoracic hypopla... OMIM:228520
Mullerian Aplasia And Hyperandrogenism
Hirsutism, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the ut... OMIM:158330
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Wormian bones, Prominent sternum, Thoracic kyphosis, Flexion... OMIM:300232
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, C... ORPHA:96334
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Trisomy X
Hip dysplasia, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Multicystic kidney dyspl... ORPHA:3375
Joubert Syndrome 7
Nephronophthisis, Postaxial hand polydactyly, Postaxial polydactyly, Retinal dystrophy, Renal cyst OMIM:611560
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Urogenital sinus anomaly, Aplasia of the ovary, Azoospermia, B... ORPHA:90797
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Atelosteogenesis Type I
Multiple renal cysts, Abnormal ossification involving the femoral head and neck, Short femur, Rhi... ORPHA:1190
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Talipes equinovarus, Epiphyseal stippling, Pigmentary retinopathy, Micrognathia, ... OMIM:614866
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Short finger, Multicystic kidney dysplasia, Radial deviation of finge... OMIM:300209
Renal Coloboma Syndrome
Renal hypoplasia, Retinal coloboma, Optic disc coloboma, Multicystic kidney dysplasia, Renal dysp... ORPHA:1475
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Aplasia/Hypoplasia of the radius, Multicystic kidney dyspl... ORPHA:2973
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Pectus excavatum, Thin ribs,... OMIM:616294
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Pectus excavatum, Supernumerary vertebrae, Radioulnar synostosis OMIM:263750
Axial Osteomalacia
Osteomalacia, Renal cyst, Increased bone mineral density OMIM:109130
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Limited elbow movement, Abnorma... ORPHA:85167
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux, Abnormal hip bone morphology, Renal ... ORPHA:1166
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Synostosis of carpal bones, ... ORPHA:90652
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Broad ribs, Na... OMIM:224300
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Postaxial polydactyly, Micropenis OMIM:614175
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria OMIM:252920
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Joint stiffness, Short neck ORPHA:583
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular... ORPHA:2879
Occipital Horn Syndrome
Large iliac wing, Pes planus, Recurrent urinary tract infections, Coarse hair, Abnormality of fib... ORPHA:198
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Acro-Renal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Estrogen Resistance Syndrome
Osteoporosis, Hyperinsulinemia, Glucose intolerance, Breast hypoplasia, Hypoplasia of the uterus,... ORPHA:785
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Absent pubic hair, Absent axillar... ORPHA:99429
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Pectus excavatum, Rib fusion, Thoracic hemivertebrae, Vertebral fu... OMIM:268310
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Craniosynostosis, Abnormality of the metacarpal bones, Bicornuate uterus, Phocome... OMIM:268300
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
Joubert Syndrome 35
Highly arched eyebrow, Recurrent urinary tract infections, Synophrys, Multicystic kidney dysplasi... OMIM:618161
Vacterl Association With Hydrocephalus
Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Micrognathia, Dislocated radial head, Ambiguous genitalia, mal... OMIM:260660
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness, Kyphoscoliosis OMIM:252930
Craniofaciofrontodigital Syndrome
Narrow chest, Abnormality of the ribs, Abnormal shoulder morphology, Hypoplastic vertebral bodies... ORPHA:363705
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Renal insufficiency OMIM:208540
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Camptodactyly, Pectus excavatum, Down-sloping shoulders, Vertebral f... OMIM:227330
Cenani-Lenz Syndrome
Scoliosis, Radioulnar synostosis, Synostosis of carpal bones, Synostosis of joints, Abnormal form... ORPHA:3258
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Abnormal morphology of female internal genitalia, Abnormality of the uri... ORPHA:1834
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, High anterior hairline, Hirsutism, Hypoplas... ORPHA:247768
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Abnormal hair mor... OMIM:206920
Mucopolysaccharidosis, Type Vi
Genu valgum, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Anterior wedging of L2, Lumba... OMIM:253200
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
3Q29 Microdeletion Syndrome
Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Postaxial... ORPHA:3378
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Beaking of vertebral bodies, Kyphosis, Joint stiffness, Short neck, Hy... OMIM:230500
Genitopatellar Syndrome
Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Hypoplastic ilia, Scrotal hypoplasia,... ORPHA:85201
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Pectus excavatum, Spondylolisthesis, Sacral dimple, Ver... OMIM:610443
22Q11.2 Deletion Syndrome
Cryptorchidism, Talipes equinovarus, Multiple renal cysts, Abnormality of the uterus, Hand polyda... ORPHA:567
Aicardi Syndrome
Scoliosis, Rib fusion, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Bi... ORPHA:50
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Holzgreve Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Joint stiffness ORPHA:2167
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Split hand, Scrotal hypoplasia, Phocomelia, Femoral bowing,... OMIM:276820
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Supernumerary ribs, Missing ri... OMIM:304050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Type II diabetes mellitus, Ulnar bowing, Precocious puberty, Narr... OMIM:210720
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae ORPHA:3035
Abnormality of the ribs, Craniosynostosis, Recurrent fractures, Narrow chest ORPHA:436
Premature Ovarian Failure 7
Absent pubic hair, Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Premature ... OMIM:612964
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Renal angiomyolipoma, Retinal hamartoma, Chorioretinal hypopigmenta... ORPHA:805
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Carpal bone hypoplasia, Short ri... OMIM:252600
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, 3-4 toe syndactyly, Short metatarsal, Broad thumb, Pseudoepiphyses ... OMIM:107480
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Sex reve... OMIM:114290
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Campomelic Dysplasia
Ambiguous genitalia, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the... ORPHA:140
Hydrolethalus Syndrome 1
Talipes equinovarus, Bifid uterus, Postaxial hand polydactyly, Preaxial hand polydactyly, Abnorma... OMIM:236680
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Renal insuf... OMIM:113470
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Increased bone mineral density, Osteopenia, Vertebral arch anomaly ORPHA:85184
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Postaxial hand polydactyly, Urogenital sinus anomaly, Tars... ORPHA:2473
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Platyspondyly, Accelerated skeletal maturation, Broad ribs, Narrow chest, Ovoid ver... ORPHA:1517
Mosaic Trisomy 1
2-3 finger syndactyly, Penile hypospadias, Rocker bottom foot, Camptodactyly of finger, Renal cor... ORPHA:1692
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Micrognathia, Aplasia/Hypoplasia involving the pelvis, Multicystic kidney dysplas... ORPHA:3301
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Craniofaciofrontodigital Syndrome
Joint hypermobility, Cubitus valgus, Broad ribs, Pectus excavatum, Short neck, Hypoplastic verteb... OMIM:114620
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Delayed skeletal maturation ORPHA:2643
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Hypoplasia of the ulna, Ankle clonus, Hypercalciuria, Renal cyst, Ureteral stenosis... OMIM:615398
Mosaic Trisomy 8
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow chest, Patellar ap... ORPHA:96061
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Multicystic kidney dysplasia, Sparse and thin ... ORPHA:73246
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the uterus, Streak o... ORPHA:168563
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Cornelia De Lange Syndrome 1
Cryptorchidism, Hirsutism, Vesicoureteral reflux, Phocomelia, Curly eyelashes, Hypoplastic male e... OMIM:122470
Tibial Hemimelia
Absent tibia OMIM:275220
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Renal agen... ORPHA:887
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Genu valgum, Cubitus valgus, Broad ribs, Genu varum, Osteopenia, Sclero... OMIM:269300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Camptodactyly of finger, Craniosynostosis, Dislocated radial h... ORPHA:1826
Syndromic Diarrhea
Hypopigmentation of hair, Renal hypoplasia, Uncombable hair, Brittle hair, Polycystic kidney dysp... ORPHA:84064
Trisomy 20P
Cryptorchidism, Coarse hair, Micrognathia, Low posterior hairline, Abnormality of the kidney, Low... ORPHA:261318
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Mesoaxial foot polydactyly, Decreased testicul... OMIM:146510
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Genu valgum, Joint laxity, Narrow chest, Br... OMIM:304150
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Radioulnar synostosis, Patellar aplasia, Abnormality of the ribs, Delayed... OMIM:617604
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Unilateral re... OMIM:156810
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Genu valgum, Joint laxity, Carpal bone hypoplasia, Short ribs, Lumbar hyperlordosis, I... OMIM:250420
Lumbar Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Renpenning Syndrome
Abnormality of the ribs, Pectus excavatum, Sprengel anomaly, Joint stiffness ORPHA:3242
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Campomelia, Cumming Type
Abnormality of the ribs, Abnormally ossified vertebrae, Abnormal thorax morphology ORPHA:1318
Joubert Syndrome 14
Morning glory anomaly, Highly arched eyebrow, Renal cyst, Postaxial polydactyly OMIM:614424
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Rickets, Beaded ribs, Generalized oste... ORPHA:89936
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Protrusio acetabuli, Narrow chest, Decreased calvarial ossification, Pe... OMIM:610682
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Short ribs, Short neck, Hypopla... OMIM:245190
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease