Registered for phenotyping at IMPC

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

Gene Summary

Name:
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms:
lunatic fringe

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 Lfng 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 Lfng by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Short thorax, Kyphosis, Abnormal form of the vertebral... ORPHA:2311

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae, Rib fusion OMIM:608681
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... OMIM:118610
Poland Syndrome
Hypoplasia of serratus anterior muscle, Absence of pectoralis minor muscle, Unilateral absence of... OMIM:173800
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Abnormal rib morphology, Vertebral fusion, Abnormali... OMIM:613686
Cervical Rib
Cervical ribs OMIM:117900
Sprengel Deformity
Shoulder muscle hypoplasia, Scoliosis, Neck muscle hypoplasia, Sprengel anomaly, Spina bifida occ... OMIM:184400
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Absent or minimally ossified vertebral bodies, Enlarged t... ORPHA:66637
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Posterior rib fusion, Hyperlo... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Pectus carinatum, Delayed skeletal mat... ORPHA:3268
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Shoulder girdle muscle atrophy, Pectus excavatum, Scoliosis, Pectus... ORPHA:64755
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Pectus excavatum, Scoliosis ORPHA:93302
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Abnormal r... ORPHA:2790
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Tarsal synostosis, Posteri... ORPHA:2064
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Scoliosis, Hyperconvex ve... OMIM:184255
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Ovoid vertebr... OMIM:609052
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Increased vertebral height ORPHA:93304
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Short thorax, Kyphosis, Abnormal form of the vertebral... ORPHA:2311
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Short thorax, Joint stiffness, Abnormal form of the vertebral... ORPHA:1801
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Narrow chest, Abnormal rib morphology, Abnormali... ORPHA:1354
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Cubitus valgus, Joint hyperflexibility, Hypogonadism, Decreas... ORPHA:1875
Cerebrofaciothoracic Dysplasia
Short neck, Bifid ribs, Scoliosis, Sprengel anomaly, Narrow chest, Vertebral segmentation defect,... ORPHA:1394
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly ORPHA:168555
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Joint stiffness, Vertebr... ORPHA:40
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Male hypogonadism, Superior ri... OMIM:307500
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae OMIM:214300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple, Short thorax OMIM:618845
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Thoracic kyphosis, Decreased hip abduction, Intervertebral space narrowing, Platyspon... OMIM:609223
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Vertebral wedging, Skeletal muscle hypertrophy, Bell-shaped thorax, Pectus carinatu... OMIM:255710
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Syndactyly, Vertebral... OMIM:148050
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Cervical vertebral bodies with decreased ant... OMIM:606842
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormal rib morphology, Scoliosis, Sprengel anomaly... OMIM:118100
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Hemivertebrae, Pectus excavatum OMIM:604919
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernum... OMIM:271520
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Short distal phalanx of the thumb, Short ribs, Vertebral wedgi... OMIM:109400
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Reduced sperm motility, Proximal femoral metaphyseal ir... OMIM:602271
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Metatropic Dysplasia
Joint stiffness, Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Abnormal fo... ORPHA:2635
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Abnormal rib morphology, Abnormality of the ankles, Cubitus valgus, T... ORPHA:1836
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Small abnormally formed scapulae, Short greater sciatic ... OMIM:187601
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Metaphyseal widening, Short ribs, Irregular chondrocostal junctions, Hypoplastic... OMIM:187760
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Abnormal thorax morphology, Fused thora... ORPHA:1445
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Posterior rib fusion, Pectus excavatum, Abnormal rib cage morphology, Preaxial hand polydactyly, ... OMIM:608406
46,Xx Gonadal Dysgenesis
Osteopenia, Primary amenorrhea, Delayed puberty, Aplasia/hypoplasia of the uterus, Decreased seru... ORPHA:243
Thoracic Dysostosis, Isolated
Short ribs, Recurrent respiratory infections, Bell-shaped thorax, Pectus excavatum OMIM:187750
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Vertebral wedging, Pectus excavatum, Scoliosis, Pectus carinatum... OMIM:301014
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:312150
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Bowing of limbs du... OMIM:615220
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Kuskokwim Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Abnormal clavicle morphology, Scoliosis, ... ORPHA:1149
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Small scrotum, Short neck, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:2234
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Azoospermia, Aplasia/hypoplasia of the uterus, Abnormal rib morphology, Bicornuate ut... ORPHA:2578
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Cone-shaped epiphysis, Scoliosis, Pseudoepiphyses, Synostosis o... OMIM:157800
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral b... OMIM:604864
Satoyoshi Syndrome
Genu varum, Amenorrhea, Abnormality of the ovary, Hyperlordosis, Abnormality of the uterus, Abnor... ORPHA:3130
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Osteopenia, Female hypogonadism, Amenorrhea, Menorrhagia, ... ORPHA:397685
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, Abnormal rib morphology, Pectu... ORPHA:2522
Retinal Detachment
Retinal detachment OMIM:180050
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Delayed puberty, Elevated circulating ... OMIM:619665
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Optic atrophy, Bifid ribs, Scoliosis, Small ha... ORPHA:50
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Optic atrophy, Abnormal rib morphology ORPHA:1513
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Brachydactyly, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Brachydactyly, Type B1
Hypoplastic sacrum, Micropenis, Thoracolumbar scoliosis, Vertebral fusion, Delayed cranial suture... OMIM:113000
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Bruck Syndrome 1
Pterygium, Kyphosis, Joint laxity, Vertebral wedging, Osteoporosis, Ankle flexion contracture, In... OMIM:259450
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Kyphosis, Congenital muscular dystrop... OMIM:607155
Aicardi Syndrome
Missing ribs, Block vertebrae, Supernumerary ribs, Optic atrophy, Bifid ribs, Scoliosis, Proximal... OMIM:304050
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Kbg Syndrome
Thoracic kyphosis, Cervical ribs, Short neck, Cryptorchidism, Persistent open anterior fontanelle... ORPHA:2332
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex con... OMIM:265000
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae, ... ORPHA:313892
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasia ... ORPHA:168549
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Craniosynostosis, Short neck, Sacral dimple, Beaking of vertebral bodies, Bifid ribs, Overlapping... OMIM:213980
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... ORPHA:432
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Pontine Tegmental Cap Dysplasia
Scoliosis, Facial palsy, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Narrow chest, Bell-shaped thorax OMIM:211120
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Recurrent fractures, Skeletal muscle atrophy, ... ORPHA:1486
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Vertebral wedging, Scoliosis, Vertebral fusion, He... ORPHA:377
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Inflammatory myopathy, Skeletal muscle atrophy, Short ribs, Spinal muscular atrophy,... ORPHA:1145
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus exc... OMIM:602196
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Small scrotum, Pterygium, Popliteal pterygium, Camptodactyly of fi... ORPHA:2990
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankles, Platys... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Knee pain, Short neck, Cervical subluxation, Hypoplasia of the odontoid process, Platyspondyly, B... OMIM:184100
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Premature ovarian insufficiency, Lower limb pain, Hypopl... OMIM:609993
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Perrault Syndrome 4
Primary amenorrhea, Osteoporosis, Decreased serum estradiol, Bicornuate uterus, Secondary amenorr... OMIM:615300
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Aarskog-Scott Syndrome
Short neck, Abnormality of the cervical spine, Cryptorchidism, Abnormal vertebral segmentation an... ORPHA:915
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, El... ORPHA:2916
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Narrow chest, Meta... OMIM:151210
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Short thorax, Joint stiffness, Delayed epip... ORPHA:485
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Small abnormally formed scapulae, Short great... OMIM:187600
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Osteoporosis, Primary amenorrhea OMIM:300604
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coronal cleft vertebrae, Flattened epiphysis, Coxa valga, ... OMIM:618363
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Osteoporosis,... ORPHA:251510
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hypoplastic vertebral bodies, Pectus excavatum, Kyphoscoliosis, Spinal canal s... OMIM:263540
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Tibial bowing, Osteoarthritis, Pear-shaped ve... OMIM:602111
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Maternal diabetes, Hypoplastic vertebral bodies, Cryptorchidism, S... ORPHA:3027
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Broad ... OMIM:200610
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Scoliosis, Mitochondrial hypertrophy OMIM:619518
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Scoliosis, Vertebral fusion, Limb p... ORPHA:93315
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull base, Pectus excavatum, J... OMIM:130720
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Scoliosis, Abnormal rib cage morphology, Narrow greater sci... OMIM:184252
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Missing ribs, Supernumerary ribs, Vertebral hypoplasia, Anterior p... OMIM:206900
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Camptodactyly of finger, Ske... OMIM:305620
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hypopla... ORPHA:3109
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... OMIM:615633
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Abnormal vertebral morphology, Abnormal rib morphology, H... ORPHA:2319
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Osteopenia, Vertebral compression fracture, Joint hypermobility OMIM:616229
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Platyspondyly, Abnorma... ORPHA:93267
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Platyspondyly, Secondary amenorrhea, Irregular vertebral endplates, Kyphoscol... OMIM:612847
Verheij Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislocation OMIM:615583
Obesity Due To Congenital Leptin Deficiency
Accelerated skeletal maturation, Primary amenorrhea, Hyperinsulinemia, Decreased serum testostero... ORPHA:66628
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Scoliosis, Vertebral fusion, Small hand,... OMIM:268310
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Short ribs, Pectus excavatum, Scoliosis, Torticollis OMIM:618155
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Osteoporosis, Decreased serum estradiol, Impoten... ORPHA:2232
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Obesity Due To Leptin Receptor Gene Deficiency
Accelerated skeletal maturation, Primary amenorrhea, Hyperinsulinemia, Decreased serum testostero... ORPHA:179494
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Hand polydactyly, Abnormal vertebral morphology, Scoliosis, Rib fusion ORPHA:261197
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... ORPHA:628
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Holt-Oram Syndrome
Absent thumb, Kyphosis, Phocomelia, Finger syndactyly, Triphalangeal thumb, Abnormal clavicle mor... ORPHA:392
Grant Syndrome
Wormian bones, Joint dislocation, Decreased skull ossification, Abnormal rib morphology, Abnormal... ORPHA:2097
Hyperparathyroidism, Transient Neonatal
Short ribs, Thin ribs, Narrow chest, Osteopenia OMIM:618188
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Wormian bones, Thoracic kyphosis, Anterior rib cupping, Short... OMIM:300232
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocated radial head, Beaking of v... ORPHA:93359
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
White Forelock With Malformations
Abnormal rib morphology, Sprengel anomaly, Spina bifida occulta, Joint hyperflexibility, Delayed ... ORPHA:2475
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Barre... OMIM:200600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Thickened... OMIM:122860
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Abnormal rib morphology, Sprengel anomaly, Bico... OMIM:601076
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... OMIM:619698
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Short neck, Flexion contracture, Thoracolumbar ... OMIM:616549
Mucolipidosis Iii Gamma
Short neck, Joint stiffness, Kyphosis, Hyperlordosis, Abnormal rib cage morphology, Scoliosis, Pe... OMIM:252605
Mosaic Trisomy 14
Narrow chest, Short neck, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendo... OMIM:203500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased s... ORPHA:247768
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Scoliosis, Enlarged thorax, Scapular winging, Hy... ORPHA:2616
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Scoliosis, Metaphyseal wideni... OMIM:223800
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Dysplastic sacrum, Radioul... OMIM:134780
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Short neck, Hypoplasia of the ... OMIM:272460
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia, Short foot ORPHA:93298
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ribs, Scoliosis, Short hume... OMIM:610319
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Ovoid vertebral bodies, Kyphosis, Coxa valga, Cervical subluxation, Large el... OMIM:253000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
1P36 Deletion Syndrome
Brachydactyly, Kyphosis, Foot polydactyly, Optic atrophy, 11 pairs of ribs, Clinodactyly of the 5... ORPHA:1606
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Lateral clavicle hook, Elbow dislocation, Radioulnar synostosis... OMIM:171480
Mucopolysaccharidosis Type 4
Short neck, Short thorax, Kyphosis, Joint dislocation, Hyperlordosis, Abnormal rib morphology, Pl... ORPHA:582
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Cooper-Jabs Syndrome
Missing ribs, Congenital diaphragmatic hernia, Abnormal rib morphology, Scoliosis, Reduced bone m... ORPHA:1488
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Baller-Gerold Syndrome
Carpal synostosis, Carpal bone aplasia, Scoliosis, Bicoronal synostosis, Aplasia of metacarpal bo... OMIM:218600
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Death in inf... ORPHA:1507
Aromatase Deficiency
Osteopenia, Primary amenorrhea, Cryptorchidism, Osteoporosis, Ambiguous genitalia, female, Genu v... ORPHA:91
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Sandal gap, Abnormal rib morphology, Scolio... ORPHA:2180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Metaphyseal cupping, Plat... OMIM:300863
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Wormian bones, Vertebral compression fracture, Recurrent fractures, Thi... OMIM:617952
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Leopard Syndrome 1
Missing ribs, Short neck, Delayed puberty, Cryptorchidism, Micropenis, Pectus excavatum, Aplasia ... OMIM:151100
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Hypoplasia of proximal radius, Short greater sciatic notch, Short long bone... OMIM:184253
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Abnormal penis morphology, Cryptorchidism, Uterus d... ORPHA:1756
Wildervanck Syndrome
Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Recurrent fractures, Osteoporosis, Platyspondyly, Pectus excavatum, Barrel-shaped ... OMIM:619131
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swell... OMIM:612852
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Osteogenesis Imperfecta, Type Ii
Wormian bones, Recurrent fractures, Multiple prenatal fractures, Thin ribs, Absent ossification o... OMIM:166210
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259420
Cog1-Cdg
Irregularity of vertebral bodies, Coxa valga, Short long bone, Short neck, Kyphoscoliosis, Butter... ORPHA:263508
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Hyperlordosis, Abnormal rib morphology, Pe... ORPHA:3068
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Genu varum, Narrow iliac wing, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... OMIM:250420
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Radial head subluxation, Y-shaped metacarpals, Short ... OMIM:146510
Koolen-De Vries Syndrome
Hypothyroidism, Kyphosis, Joint hyperflexibility, Cryptorchidism, Pectus excavatum, Scoliosis, Ve... ORPHA:96169
Bardet-Biedl Syndrome
Short neck, Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Anisospondyly, Short long bone, Neonatal death, Thoracic hypoplasia OMIM:224410
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Ovoid vertebral bodies, Kyphosis, Coxa valga, Cervical subluxation, Hypoplas... OMIM:253010
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Missing ribs, Radioulnar dislocation, Cryptorchidism, Mi... ORPHA:97360
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Scoliosis, Male infertility, Bilateral crypto... ORPHA:1772
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Kyphosis, Metatarsus valgus, Abnormality of epiphysis morphology, Short neck, Apl... ORPHA:3082
Prune Belly Syndrome
Vertebral segmentation defect, Cryptorchidism, Congenital hip dislocation, Abnormal rib morpholog... ORPHA:2970
Phaver Syndrome
Myelomeningocele, Pterygium, Abnormal form of the vertebral bodies, Triphalangeal thumb, Short th... ORPHA:2876
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Increased bone mineral density, Elbow dislocation, Abnormal vertebral... ORPHA:90650
Fibrochondrogenesis
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Short ribs, Narrow chest, Hypop... ORPHA:2021
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, Thin ribs, In... OMIM:604922
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Abnormal rib morphology, Joint hyperflexibil... ORPHA:2759
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Thin ribs, Metaphyseal chondrodysplasia, Platyspondyly, Hypoplastic iliac wing, Metap... ORPHA:163966
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Short neck, Cryptorchidism, 11 pairs of ribs, Thor... OMIM:108720
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Short neck, Decreased hip abduction, Congenital hip dislocation, Thoracolu... OMIM:114300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Abnormal rib morphology, Short dista... ORPHA:1120
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Genu varum, Cervical ribs, Scoliosis, Patellar dislocation, Fused cervical... ORPHA:3320
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic bronchitis OMIM:613490
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Cryptorchidism, Hypoplasia of penis, Abnor... ORPHA:2772
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered finger, Tapered toe, Rib fusion ORPHA:544488
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Hypoplastic pubic rami, Kyphosis, Abnormal form of the verte... ORPHA:280
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Multiple prenatal fractures, Skeletal muscle atrophy, Abnor... ORPHA:171430
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, Glandular hypospadias, Cryptorchidism, Micropenis, Thin ribs, Joint hypermobi... ORPHA:456328
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Cone-shaped epiphyses of the phalanges of the... ORPHA:2484
Mosaic Trisomy 20
Kyphosis, Cryptorchidism, Down-sloping shoulders, Scoliosis, Spinal canal stenosis, Vertebral fus... ORPHA:1724
Achondrogenesis Type 1A
Short neck, Short palm, Short thorax, Multiple rib fractures, Narrow chest, Umbilical hernia, Sho... ORPHA:93299
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Abnormal rib morpholog... ORPHA:3035
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum OMIM:619122
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture OMIM:615368
Congenital Disorder Of Glycosylation, Type Iig
Short neck, Osteopenia, Cryptorchidism, Abnormal rib morphology, Anemia, Scoliosis, Butterfly ver... OMIM:611209
Dysosteosclerosis
Narrow iliac wing, Clavicular sclerosis, Short diaphyses, Hypoplastic vertebral bodies, Short ste... OMIM:224300
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Metaphyseal irregularity, Ovoid vertebral bodies, Flared iliac wing, Hypopla... OMIM:253200
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Irregularity of vertebral bodies, Wrist swelling, Abnormali... ORPHA:1159
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Premature osteoarthritis, Metaphyseal irregularity, Vertebral com... ORPHA:93352
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Abnormal rib morphology ORPHA:2643
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita OMIM:618265
Short Stature And Facioauriculothoracic Malformations
Cervical ribs, Short neck, Pectus excavatum, Abnormality of the odontoid process, Pectus carinatum OMIM:609654
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis OMIM:604571
Chromosome 1P36 Deletion Syndrome, Distal
Brachydactyly, Delayed closure of the anterior fontanelle, Optic atrophy, 11 pairs of ribs, Clino... OMIM:607872
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Cole-Carpenter Syndrome
Wormian bones, Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures, Abnormal rib... ORPHA:2050
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Scoliosis, Irregular ca... OMIM:252600
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Dislocated radial head, Clinodactyly of the 5th finger, Short metacarpal, Hypoplas... OMIM:617604
Opsismodysplasia
Hypoplastic ischia, Anterior rib cupping, Hypoplastic pubic bone, Posterior rib cupping, Hypoplas... OMIM:258480
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Decreased cervical spine mobility, Scoliosis, Limb pain, Abnormal shoulder morphology,... ORPHA:93284
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Myelomeningocele, Increased bone mineral density, ... ORPHA:90652
Mucopolysaccharidosis Type 6
Short neck, Ovoid vertebral bodies, Joint stiffness, Kyphosis, Macroglossia, Genu valgum, Broad ribs ORPHA:583
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Spondyloepimetaphyseal Dysplasia, X-Linked
Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses, Prominent styloid process... OMIM:300106
Hypophosphatasia
Narrow chest, Craniosynostosis, Recurrent fractures, Abnormal rib morphology ORPHA:436
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... ORPHA:2347
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Hyperextensible hand joints, Shawl scrotum, Down-sloping shoulders, Pectus excava... OMIM:227330
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Osteogenesis Imperfecta, Type X
Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Generalized joint laxity, Pl... OMIM:613848
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Scoliosis, Thickened ribs OMIM:252900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Bronchiectasis, Recurrent lower respiratory tract infecti... ORPHA:60033
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Abnormal thorax morphology OMIM:253310
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Brachytelephalangic Chondrodysplasia Punctata
Coronal cleft vertebrae, Cervical kyphosis, Vertebral hypoplasia, Calcaneal epiphyseal stippling,... ORPHA:79345
Three M Syndrome 2
Clinodactyly, Short neck, Short thorax, Thin ribs, Short 5th finger, Hyperlordosis, Lumbar hyperl... OMIM:612921
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Congenital diaphragmatic hernia,... ORPHA:1834
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Abn... ORPHA:1318
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Ovarian cyst, Adrenocorticotropic hormone deficien... ORPHA:91348
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Pectus carinatum, Hypoplasia of the ulna, Kyphosis, Finger syndactyly, Short ... ORPHA:958
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Osteopenia, Coronal craniosynostosis, Thin ... OMIM:616294
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida o... OMIM:619227
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Scoliosis, Ectopic ossi... OMIM:135100
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Osteopenia, Recurrent fractures, Multiple prenat... OMIM:610915
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Cryptorchidism, Pectus excavatum, Joint hypermobility, Spondylolisthesis... OMIM:610443
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Kyphosis, Abnormal form of the vertebral bodies, Accessory spleen, Sacral ... OMIM:194190
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Thoracic platyspondyly, Sandal gap, Short toe, Genu v... OMIM:619636
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Zttk Syndrome
Cervical ribs, Craniosynostosis, Kyphosis, Optic atrophy, Scoliosis, Small hand, Hemivertebrae, R... OMIM:617140
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Aplasia of the uterus, Eosinophilia, Cervical ribs, Hepatosplenomegaly, L... OMIM:274000
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Osteopenia, Hyperinsulinemia, Delayed puberty, Micropen... ORPHA:3464
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Vacterl/Vater Association
Abnormal sacrum morphology, Abnormal morphology of female internal genitalia, Cryptorchidism, Ane... ORPHA:887
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Renpenning Syndrome
Joint stiffness, Skeletal muscle atrophy, Abnormal rib morphology, Pectus excavatum, Sprengel ano... ORPHA:3242
Greenberg Dysplasia
Hypoplastic vertebral bodies, 11 pairs of ribs, Absent distal phalanges, Narrow chest, Brachydact... OMIM:215140
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Post... OMIM:617895
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Penile hypospadias, Glandular hypospadias, Micropenis, Thin ribs, Join... OMIM:300219
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Coxa valga, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long ... ORPHA:85184
Holzgreve Syndrome
Abnormality of the ulna, Hand polydactyly, Abnormal rib morphology, Abnormally ossified vertebrae... ORPHA:2167
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Abnormal rib morphology, Split hand ORPHA:2145
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness, Thickened ribs OMIM:252920
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Brachydactyly, Bowing of the legs, Bowing of the long bones, Ovoid vertebral bodies,... ORPHA:85167
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Finger symphalangism, Missing ribs, A... ORPHA:2911
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Cantú Syndrome
Ovoid vertebral bodies, Coxa valga, Finger syndactyly, Short neck, Short hallux, Platyspondyly, S... ORPHA:1517
Sarcoidosis, Susceptibility To, 2
Emphysema, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Pleural effusion, Bronchi... OMIM:612387
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Abnormal scapula morphology, Cone-shaped epiphysis, Metaphyseal cho... ORPHA:93317
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging of the costochondral junction, Enlargement of the costochondra... OMIM:600081
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Flexion contracture, Short neck, Multiple prenatal fractures, Osteopenia, Short ri... OMIM:616897
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles, Stenosis of the medullary cavity of the long bones, Small hand, Delaye... ORPHA:93324
Pallister-Hall Syndrome
Distal arthrogryposis, Primary adrenal insufficiency, Radial head subluxation, Cryptorchidism, Pa... ORPHA:672
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Kyphoscoliosis, Thickened ribs OMIM:252930
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Hypersensitivity pneumonitis, Honeycomb lung, Chronic bronchitis, Respiratory tract in... ORPHA:79127
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Absent radius, Oligodactyly, Abnormal rib morphology, Short tibia, ... OMIM:251230
Simpson-Golabi-Behmel Syndrome
Accelerated skeletal maturation, Vertebral segmentation defect, Short neck, Cryptorchidism, Super... ORPHA:373
Kyphomelic Dysplasia
Anterior rib cupping, Pterygium, Lateral clavicle hook, Undulate ribs, Short metacarpal, Tibial b... OMIM:211350
Cleidocranial Dysplasia
Brachydactyly, Abnormal sacrum morphology, Wormian bones, Abnormal thumb morphology, Hypoplastic ... ORPHA:1452
Frontometaphyseal Dysplasia
Shoulder muscle hypoplasia, Limitation of knee mobility, Limitation of movement at ankles, Cranio... ORPHA:1826
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis, Death... OMIM:230500
Pyknoachondrogenesis
Abnormal intramembranous ossification, Horizontal ribs, Short thorax, Short ribs, Sclerosis of sk... ORPHA:3003
Holt-Oram Syndrome
Absent thumb, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalangea... OMIM:142900
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal rib morpholo... ORPHA:175
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phalanx of finger, Flared meta... OMIM:271665
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Prolactinoma
Irregular menstruation, Erectile dysfunction, Osteoporosis, Central adrenal insufficiency, Adreno... ORPHA:2965
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Camptodactyly of finger, Recurrent fractures, Abnormal rib mor... ORPHA:83
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Stuve-Wiedemann Syndrome 1
Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal rarefaction, Thickened ... OMIM:601559
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Coxa valga, Flared metaphysis, Scoliosis, Cubitus valgus, Broad long b... OMIM:269300
Aromatase Deficiency
Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism, D... OMIM:613546
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Aganglionic megacolon, Abnormal vertebral morphology, Abnorm... OMIM:308205
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin ribs, Decreased skull ossification, Thin clavicl... OMIM:244460
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Torticollis, Narrow chest, Stiff neck, Broad ribs OMIM:617022
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections OMIM:618042
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Enlarged interphalangeal joints, Genu recurvatu... OMIM:151200
Myhre Syndrome
Short neck, Joint stiffness, Generalized muscle hypertrophy, Platyspondyly, Vertebral fusion, Ske... OMIM:139210
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Spina bifida, Sprengel anomaly OMIM:193500
Mosaic Trisomy 8
Short neck, Camptodactyly of finger, Abnormal rib morphology, Scoliosis, Arthrogryposis multiplex... ORPHA:96061
Familial Osteodysplasia, Anderson Type
Missing ribs, Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Aplastic clav... ORPHA:2769
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Thin ribs, Triangular shaped distal pha... ORPHA:73230
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Joint hypermobility, Pectus excavatum, Cubitus valgus, ... OMIM:114620
Autosomal Dominant Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Joint stiffness, Cryptorchidism, Ab... ORPHA:1300
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Upper limb muscle weakness, Cervical C2/C3 vertebral fusion ORPHA:370010
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Abnormal rib morphology, Ectrodactyly, Sc... ORPHA:3378
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs, Proximal muscle weakness in lower limbs, Abno... ORPHA:169189
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Smith-Mccort Dysplasia 1
Genu varum, Atlantoaxial instability, Kyphosis, Hypoplastic acetabulae, Hypoplasia of the odontoi... OMIM:607326
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Septo-optic dysplasia, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morpho... ORPHA:3301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Abnormal rib cage morp... OMIM:271640
X-Linked Hypophosphatemia
Bowing of the long bones, Genu varum, Enlargement of the costochondral junction, Craniosynostosis... ORPHA:89936
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Abnormal sternum morphology, Bro... ORPHA:2519
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Short neck, Kyphosis, Hip osteoarthritis, Shield chest, Platyspondyly, Barrel-shaped chest, Lumba... OMIM:313400
Occipital Horn Syndrome
Orthostatic hypotension, Kyphosis, Coxa valga, Short clavicles, Platyspondyly, Limited knee exten... OMIM:304150
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Diastasis recti, Coat hanger sign of ribs, Joint laxity, Pectus excavatum, M... ORPHA:254528
Radio-Renal Syndrome
Brachydactyly, Short neck, Short palm, Abnormal form of the vertebral bodies, Hypoplasia of the r... ORPHA:3015
Hurler Syndrome
Short neck, Camptodactyly of finger, Abnormality of epiphysis morphology, Abnormal nerve conducti... ORPHA:93473
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia, Diastasis recti ORPHA:254534
Osteogenesis Imperfecta, Type Vii
Bowing of the legs, Wormian bones, Vertebral compression fracture, Narrow chest, Crumpled long bo... OMIM:610682
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Rectovaginal fistula, Hemivertebrae ORPHA:1780
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Cryptorchidism, Abnormal rib cage morphology, Aplasia/Hy... OMIM:224690
Genitourinary And/Or Brain Malformation Syndrome
Joint stiffness, Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Gonadal dysgenesis, Kypho... OMIM:618820
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Cervical ribs, Optic atrophy, Sagittal craniosynostosis, Optic nerve hypoplasia, Me... ORPHA:500150
Xylt1-Cdg
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Joint dislocation, Flared metaphys... ORPHA:370930
Alagille Syndrome
Abnormal form of the vertebral bodies, Delayed puberty, Cryptorchidism, Abnormal rib morphology, ... ORPHA:52
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Osteopenia, Thin ribs, Lumbar hemivertebrae, Thenar muscle atrophy, Ab... ORPHA:2463
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Thoracic scoliosis, Thoracic kyphosis, Short neck, Hypermobility of interph... ORPHA:508498
Fibrous Dysplasia Of Bone
Ovarian cyst, Abnormal rib morphology, Osteomalacia, Scoliosis, Diabetes mellitus, Bone pain, Ric... ORPHA:249
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Elbow flexion contracture, Hy... OMIM:200980
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Supernumerary vertebrae, Congenital hip dislocation, Short thumb, Hypopla... OMIM:263750
Schinzel-Giedion Syndrome
Central hypothyroidism, Abnormal thorax morphology, Sacrococcygeal teratoma, Scoliosis, Stiff elb... ORPHA:798
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Short long bone, Postaxial foot polyd... OMIM:225500
Van Den Ende-Gupta Syndrome
Craniosynostosis, Dislocated radial head, Thin ribs, Lateral clavicle hook, Slender metacarpals, ... OMIM:600920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Irregular epiphyses, Hypoplasia of the ulna, Foot polydactyly, Me... OMIM:208500
Kagami-Ogata Syndrome
Flexion contracture, Diastasis recti, Thin ribs, Long clavicles, Bell-shaped thorax, Kyphoscoliosis OMIM:608149
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Reticular pattern on pulmonary HRCT, Honeycomb lung, Intraalv... OMIM:610921
Fanconi Anemia, Complementation Group I
Hypothyroidism, Short neck, Neutropenia, Fused cervical vertebrae, Decreased response to growth h... OMIM:609053
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins