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Gene: Nacc1 MGI:1914080

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Nacc1em1(IMPC)Hmgu HOM Early adult 1.30×10-05
polycystic kidney Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
decreased total retina thickness Nacc1em1(IMPC)Hmgu HOM Early adult 4.46×10-10
abnormal auditory brainstem response Nacc1em1(IMPC)Hmgu HOM   Early adult 9.38×10-05
absent vibrissae Nacc1em1(IMPC)Hmgu HOM Early adult 5.58×10-15
hydrometra Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
decreased bone mineral content Nacc1em1(IMPC)Hmgu HOM Early adult 5.66×10-05
abnormal retina morphology Nacc1em1(IMPC)Hmgu HOM Early adult 5.51×10-21
impaired glucose tolerance Nacc1em1(IMPC)Hmgu HOM Early adult 3.05×10-05
decreased grip strength Nacc1em1(IMPC)Hmgu HOM Early adult 1.38×10-05
increased mean corpuscular volume Nacc1em1(IMPC)Hmgu HOM Early adult 5.88×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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
phenotypes		 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
phenotypes		 Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Chondrocalcino... OMIM:118610
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Abnormality of the kidney, Polydactyly, Retinal dystrophy, Renal cyst, Renal ... OMIM:615987
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... ORPHA:3268
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Bardet-Biedl Syndrome 16
External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration, Renal agenesis, Abnormalit... OMIM:615993
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Cryptorchidism, Aplasia/Hypoplasia of t... ORPHA:1988
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... OMIM:609813
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal for... ORPHA:40
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism, Abnormality of the cervical spine, Superior ri... OMIM:307500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Abnormality of the kidney,... OMIM:615982
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... ORPHA:2790
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple OMIM:618845
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... OMIM:184260
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Sho... ORPHA:1505
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Scoliosis, Abnormal thorax morphology, Thoraci... ORPHA:1445
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Retinopathy OMIM:617562
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Bardet-Biedl Syndrome 6
External genital hypoplasia, Rod-cone dystrophy, Postaxial polydactyly, Hypospadias, Syndactyly, ... OMIM:605231
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Rhyns Syndrome
Rod-cone dystrophy, Nephronophthisis, Hypoplastic ilia, Osteopenia, Multicystic kidney dysplasia,... ORPHA:140976
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Pectus excavatum, Osteopenia, Scoliosis, Biconcave vertebral bodies, Pectus ... OMIM:301014
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Kuskokwim Syndrome
Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno... ORPHA:1149
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Metatropic Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... ORPHA:2635
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Micropenis, Hyp... OMIM:607143
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Ulnar deviation of the hand, Bicornuate uterus, Narrow greater sciatic notch, ... OMIM:263210
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Tibial Hemimelia
Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent... ORPHA:93322
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Joint laxity, Increased susceptibility t... OMIM:613982
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos... OMIM:615234
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Osteopenia, Osteoporosis, Macrocytic anemia, Atresia of the ex... OMIM:612562
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Azoospermia, Short neck, Abnormal rib morphology ORPHA:2578
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Sparse hair, Short ribs, Postaxial polydactyly, Hypospadias, Apla... OMIM:614091
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Syndactyly, Osteoporosis, Macrocytic anemia, Clin... ORPHA:2169
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Rod-cone dystrophy, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia,... ORPHA:2237
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Micropenis, Short ribs, F... OMIM:613091
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Spina bifida occulta at S1, Synostosis of carpal bones, Abnormal thor... OMIM:102510
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib... ORPHA:2522
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... ORPHA:1836
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... OMIM:609052
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... ORPHA:313892
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... OMIM:601382
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Reduced sperm motility, Platyspondyly, Anterior rib cupping, Scoliosis, Thoracic hy... OMIM:602271
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Retinal... OMIM:616959
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Pectus carinatum, Protrusio ac... OMIM:259450
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Mi... OMIM:615994
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:312150
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Micrognathia, Macrocytic anemia, ... OMIM:612561
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, Hypoplasia of the radius, Uterus didelphys, Abnormality of... OMIM:200980
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Talipes equinovarus, Aminoaciduria, Micrognathia, Hypoplasia of the th... OMIM:214110
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Metatropic Dysplasia
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... OMIM:156530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Gorlin Syndrome
Hemivertebrae, Hypogonadotropic hypogonadism, Vertebral fusion, Scoliosis, Vertebral wedging ORPHA:377
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial poly... OMIM:617866
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... OMIM:253290
Kbg Syndrome
Vertebral fusion, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent open anteri... ORPHA:2332
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... OMIM:187760
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Abcd Syndrome
Polycythemia, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Tota... OMIM:600501
Hanac Syndrome
Renal insufficiency, Retinal vascular tortuosity, Hematuria, Multiple renal cysts ORPHA:73229
Slc35A2-Cdg
Sensorineural hearing impairment, Precocious puberty, Talipes equinovarus, Transient nephrotic sy... ORPHA:356961
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Microg... ORPHA:261250
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... OMIM:618395
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydrometrocolpos, Hydroureter, Congenital hip ... OMIM:236700
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Horseshoe kidney, Patellar dislocation, Clinodactyly of the 5th f... ORPHA:3320
Roberts Syndrome
Sparse hair, Craniosynostosis, Hypoplasia of the radius, Long penis, Radioulnar synostosis, Clito... ORPHA:3103
Distal Tetrasomy 15Q
Sensorineural hearing impairment, Hydrocele testis, Abnormal helix morphology, Abnormal external ... ORPHA:314588
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... OMIM:263540
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Distal renal tubular aci... OMIM:611590
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... ORPHA:93315
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Shwachman-Diamond Syndrome
Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pancytopenia, Le... ORPHA:811
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... OMIM:271650
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Pes cavus, Temporal optic ... ORPHA:1215
Blackfan-Diamond Anemia
Absent thumb, Horseshoe kidney, Reticulocytopenia, Increased mean corpuscular volume, Microtia, M... ORPHA:124
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... ORPHA:93351
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Li... ORPHA:93359
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Micrognathia, Decreased calvarial ossification, Syndact... OMIM:619879
Trisomy 17P
Low-set ears, Generalized hirsutism, Clinodactyly of the 5th finger, Hypoplasia of penis, Microgn... ORPHA:261290
Joubert Syndrome 20
Postaxial polydactyly, Retinopathy, Syndactyly, Abnormal retinal morphology, Renal cyst OMIM:614970
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long bone, Large ear... ORPHA:1106
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Bowing of the long bones OMIM:211890
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Poland Syndrome
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs OMIM:173800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, Tubulointerstit... OMIM:263200
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Lateral clavicle... OMIM:617405
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... ORPHA:1486
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Long-chain dicarboxylic aciduria, Long toe, Overfolded helix, Ureteral duplication, ... OMIM:608836
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Polycystic kidney dysplasia, Retinal dystrophy OMIM:263100
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Femoral-Facial Syndrome
Abnormal pinna morphology, Short fourth metatarsal, Radioulnar synostosis, Hypoplastic labia majo... OMIM:134780
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Decreased cranial base ossification, Disc-like vertebral bodies, Short r... OMIM:151210
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... OMIM:187601
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Splenomegaly, Anisocyt... OMIM:616860
Congenital Disorder Of Glycosylation, Type Il
Hip dislocation, Low-set ears, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Micropenis, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystrophy, Posta... OMIM:263520
Stuve-Wiedemann Syndrome 1
Sparse hair, Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalange... OMIM:601559
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Ret... ORPHA:552
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal dysplasia, Sparse hair, Sparse eyebrow, Sparse eyelas... OMIM:250410
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... ORPHA:168549
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Immunodeficiency 96
Increased mean corpuscular volume, Multicystic kidney dysplasia, Increased proportion of gamma-de... OMIM:619774
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of ... OMIM:609945
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, D... ORPHA:93267
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Low-set ears, Epiphyseal stippling OMIM:614870
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Renal cortical cysts, Glycosuria, Hypoglycemia, Generalized aminoacidu... OMIM:231680
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Retinal dystrophy, Tubulointersti... OMIM:243910
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Aarskog-Scott Syndrome
Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... ORPHA:915
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Joubert Syndrome 16
Renal cyst, Polydactyly, Retinal dystrophy, Nephronophthisis OMIM:614465
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Irregular epiphyses, Attenuation of retin... OMIM:619260
15q26 overgrowth syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormality of finger, Abnormality o... DECIPHER:81
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... ORPHA:628
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sensorineural hearing impairment, Splenomegaly, Osteopenia, Sagittal craniosynostosis, Polycystic... OMIM:610199
Renal Coloboma Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Renal... ORPHA:1475
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Meckel Syndrome, Type 9
Limb undergrowth, Ambiguous genitalia, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Vertebral fusion, Short neck... OMIM:272460
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio... OMIM:184250
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Absent eyebrow, Alopecia, Retinal degeneration, Micrognathia, Rod-cone dystrophy,... ORPHA:166035
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Absent thumb, Hypoplasia of the radius, Renal cyst, Hydronephrosis, ... OMIM:613390
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal pinna morphology, Short sternum, Abnormal external genit... ORPHA:3404
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Supern... ORPHA:64755
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Distal Monosomy 12Q
Bilateral conductive hearing impairment, Long foot, Broad hallux, Clinodactyly of the 5th finger,... ORPHA:96149
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Cryptorc... ORPHA:110
Juberg-Hayward Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the wrist, Abnormal vertebral morphology, Abnorm... ORPHA:2319
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Inc... OMIM:305620
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Hypoplasia of the ulna, Mesomelia, Renal cys... OMIM:228940
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Joi... ORPHA:2475
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Schneckenbecken Dysplasia
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... OMIM:269250
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flar... OMIM:612852
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Lateral clavicle hook, Long clavicles, Shoulder dislocation, Genu varu... OMIM:171480
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... ORPHA:582
Papillorenal Syndrome
Macular degeneration, Absence of renal corticomedullary differentiation, Morning glory anomaly, H... OMIM:120330
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Azoospermia, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic hypopl... OMIM:166210
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... OMIM:201050
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... ORPHA:2759
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... OMIM:300554
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Narrow greater sciatic notch, Micropenis, Microtia, Uterus didelphys, ... OMIM:617925
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Sh... OMIM:253000
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... ORPHA:2180
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Kyphoscoliosis, Supernumerary ribs, Abnormal sternum morphology, Sh... OMIM:109400
3M Syndrome
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Congenital hip dislocation, Sho... ORPHA:2616
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic s... OMIM:146255
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Impaired glucose tol... OMIM:615363
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Thin ribs, Decreased calvarial ossification, Biconcave vertebral b... OMIM:259420
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... OMIM:617952
Joubert Syndrome 7
Nephronophthisis, Postaxial polydactyly, Retinal dystrophy, Postaxial hand polydactyly, Genu valg... OMIM:611560
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification ORPHA:93298
Phelan-Mcdermid Syndrome
Protruding ear, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Thick eyebrow, Micrognathia, ... OMIM:606232
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic kidney dyspla... OMIM:613095
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Hypoplastic acetabulae, Broad carpal bones, Atlantoaxial instability... ORPHA:239
Say Syndrome
Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Proximal renal t... OMIM:181180
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Stillbirth OMIM:200610
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Narrow chest, Limited pronation/s... ORPHA:1724
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Pectus excavatum, Platyspondyly, Limited elbow extension, Posterior rib cup... OMIM:608728
Peroxisome Biogenesis Disorder 5A (Zellweger)
Abnormal helix morphology, Cryptorchidism, Talipes equinovarus, Splenomegaly, Micrognathia, Hepat... OMIM:614866
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Hypogonadotropic hypogonadism, Vertebral hypoplas... OMIM:206900
Orofaciodigital Syndrome I
Myelomeningocele, Low-set ears, Microretrognathia, Sparse hair, Alopecia, Ovarian cyst, Dry hair,... OMIM:311200
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Joubert Syndrome 39
Joint contracture of the 5th finger, Polycystic kidney dysplasia, Retinal dystrophy, Postaxial po... OMIM:619562
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Renal dysplasia, Optic nerve dysplasia, Renal cyst, Decreased testicular size, Hydron... OMIM:615287
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Micrognathia, Renal cyst, Low-set ears OMIM:231060
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Osteopenia, Decreased calvarial ossifi... OMIM:616229
Pseudoachondroplasia
Limited hip extension, Kyphosis, Delayed epiphyseal ossification, Lumbar hyperlordosis, Irregular... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Squared-off platyspondyly, Narrow vertebral interpedicular dista... ORPHA:93352
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Joint stiffness, Pectus excavatum, Abnormal clavicle morphology, Down... ORPHA:392
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Knee flexion contracture,... ORPHA:1145
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Meckel Syndrome, Type 1
Ambiguous genitalia, female, External genital hypoplasia, Abnormality of the ureter, Hypoplasia o... OMIM:249000
Renal Cysts And Diabetes Syndrome
Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Hypoplasia of the uteru... OMIM:137920
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, 3-Methylglutaric aciduria, Hypoglycemia, Polycystic kidney dysplasia, ... ORPHA:26791
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Genu varum, Limited elbow extension... OMIM:602111
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstit... ORPHA:157
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Pes cavus, Hammerto... OMIM:601596
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney dise... OMIM:208500
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Floating-Harbor Syndrome
11 pairs of ribs, Broad fingertip, Varicocele, Humeral pseudarthrosis, Congenital posterior ureth... ORPHA:2044
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs OMIM:610319
Satoyoshi Syndrome
Abnormality of femur morphology, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia o... ORPHA:3130
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... OMIM:265000
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Hypoplasia of the uterus, Talipes equinovarus, Bilateral talipes eq... OMIM:609441
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Simpson-Golabi-Behmel Syndrome, Type 2
Talipes equinovarus, Micropenis, Congenital hip dislocation, Multicystic kidney dysplasia, Tapere... OMIM:300209
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... ORPHA:2021
Mucopolysaccharidosis, Type Ivb
Kyphosis, Prominent sternum, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist... OMIM:253010
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... ORPHA:96169
Chromosome 17Q12 Deletion Syndrome
Hypertrichosis, Sparse eyebrow, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, ... OMIM:614527
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... OMIM:611209
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Atelosteogenesis, Type I
Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Neonatal death, Bel... OMIM:108720
Achondrogenesis, Type Ia
Narrow chest, Stillbirth, Short clavicles, Hypoplastic sacrum, Short ribs, Barrel-shaped chest, S... OMIM:200600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... OMIM:236500
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... ORPHA:2050
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of hallux phalanx, Finge... ORPHA:2751
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed ... ORPHA:3068
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... ORPHA:2876
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Neutropenia,... OMIM:617056
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic ac... ORPHA:228308
Cooper-Jabs Syndrome
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... OMIM:274000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Macular degeneration, Craniosynostosis, Nephr... OMIM:266920
22Q11.2 Deletion Syndrome
Overfolded helix, Optic atrophy, Patellar dislocation, Talipes equinovarus, Splenomegaly, Microgn... ORPHA:567
Dyggve-Melchior-Clausen Disease
Prominent sternum, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Genu valgum,... OMIM:223800
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Osteolytic defects of t... ORPHA:2484
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Trisomy 13
Abnormal antihelix morphology, Sensorineural hearing impairment, Ectrodactyly, Abnormal helix mor... ORPHA:3378
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Nephropathy, Hematuria, Retinal hemorrhage, Renal cyst, Renal insufficiency, Retinal arteriolar t... OMIM:611773
Joubert Syndrome 35
Rod-cone dystrophy, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibro... OMIM:618161
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, External genital hypoplasia, Absent glenoid fossa, Clinodactyly of ... ORPHA:96334
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook OMIM:615633
Renal-Hepatic-Pancreatic Dysplasia 1
Splenomegaly, Enlarged kidney, Hepatic cysts, Renal dysplasia, Polycystic kidney dysplasia, Renal... OMIM:208540
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Micrognathia, Multiple re... ORPHA:1166
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Beaking of vertebral bodies, Rib fusion, Pectus excavatum, Sprengel anomaly, Narrow c... OMIM:213980
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... ORPHA:79345
Kbg Syndrome
Rib fusion, Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Cervical rib... OMIM:148050
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Joint contracture of the hand, Thin ... OMIM:228520
Ogden Syndrome
Hydrocele testis, Sparse eyebrow, Congenital hip dislocation, Enlarged kidney, Broad hallux, Long... OMIM:300855
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Flexion contracture, Thin ribs, Platyspondyly, Short neck, Hypoplasia of the o... OMIM:300232
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Meckel Syndrome, Type 10
Abnormal pinna morphology, Ulnar deviation of the hand, Postaxial polydactyly, Micropenis, Hyposp... OMIM:614175
Satoyoshi Syndrome
Alopecia universalis, Hypoplasia of the uterus, Alopecia, Brachydactyly, Osteolytic defects of th... OMIM:600705
Roberts-Sc Phocomelia Syndrome
Abnormal pinna morphology, Sparse hair, Craniosynostosis, Talipes equinovalgus, Long penis, Enlar... OMIM:268300
Cole-Carpenter Syndrome 2
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... OMIM:616294
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Microretrognathia, Talipes equinovarus,... ORPHA:1788
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Ovoid thoracolumbar... OMIM:252930
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Abnormal rib morphology,... ORPHA:474
Trisomy X
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dyspl... ORPHA:3375
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Hypogonadotropic hypogonadism, Wormian bones, Fused cervical vertebrae, Flat ace... OMIM:617159
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Pectus excavatum, Congenital hip dislocation, Radioulnar synostosis OMIM:263750
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... OMIM:224300
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Microtia, Micrognathia, Abnormality of the ureter, Abnormality of the u... ORPHA:1834
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Cornelia De Lange Syndrome 1
Short sternum, Hypoplasia of the radius, Micromelia, Optic disc coloboma, Optic atrophy, Hypoplas... OMIM:122470
Mucopolysaccharidosis Type 6
Joint stiffness, Kyphosis, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies ORPHA:583
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Genitopatellar Syndrome
Sparse scalp hair, Low-set ears, Talipes equinovarus, Cryptorchidism, Micrognathia, Hypoplastic i... ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Scapul... OMIM:617796
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Thin ribs, Osteopenia, Decreased calvarial ossification, Platyspon... OMIM:610915
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... OMIM:307800
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation ... ORPHA:90652
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Stillbirth OMIM:276950
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification... OMIM:241530
Syndromic Diarrhea
Lymphopenia, Woolly hair, Brittle hair, Splenomegaly, Hypoplasia of the thymus, Hypopigmentation ... ORPHA:84064
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Protruding ear, Radial bowing, Hypoplasia of penis, Hand oligo... ORPHA:2879
Joubert Syndrome 14
Postaxial polydactyly, Morning glory anomaly, Renal cyst, Posteriorly rotated ears, Low-set ears,... OMIM:614424
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Coxa valga, Abnormal auditory evoked potentials OMIM:109120
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow extension, Delayed closure of th... OMIM:604922
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Arthrogryposis, Distal, Type 2A
Talipes equinovarus, Cryptorchidism, Adducted thumb, Camptodactyly, Ulnar deviation of the hand o... OMIM:193700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
EEG abnormality, Ankle clonus, Osteopenia, Osteoporosis, Ureteral stenosis, Hypercalciuria, Hypop... OMIM:615398
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Cenani-Lenz Syndrome
Synostosis of carpal bones, Scoliosis, Abnormal form of the vertebral bodies, Radioulnar synostos... ORPHA:3258
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... OMIM:227330
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Sensorineural hearing impairment, Low-set ears, Short distal phalanx of finger, Clinodactyly of t... OMIM:220500
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Short toe, Talipes equinovarus, Micrognathia... ORPHA:171929
Robinow Syndrome, Autosomal Recessive 1
Dislocated radial head, Rib fusion, Pectus excavatum, Hypoplastic sacrum, Hemivertebrae, Vertebra... OMIM:268310
Acro-Renal-Mandibular Syndrome
Renal hypoplasia/aplasia, Bicornuate uterus, Split foot, Hypoplasia of the radius, Uterus didelph... ORPHA:958
Braddock-Carey Syndrome 1
Talipes equinovarus, Sparse hair, Small hand, Multicystic kidney dysplasia, Camptodactyly, Clinod... OMIM:619980
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Decreased testic... OMIM:614837
Trisomy 20P
Abnormal antihelix morphology, Coarse hair, Abnormality of the ureter, Thick eyebrow, Micrognathi... ORPHA:261318
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermob... OMIM:610443
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Tetraamelia-Multiple Malformations Syndrome
Microtia, Abnormally ossified vertebrae, Micrognathia, Multicystic kidney dysplasia, Optic atroph... ORPHA:3301
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Protruding ear, Cryptorchidism, Sparse eyebrow, Arachnodactyly, Multicystic kidney dysplasia, Fet... ORPHA:73246
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Low-set ears, ... OMIM:119800
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bod... OMIM:230500
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Neuromuscular Oculoauditory Syndrome
Sensorineural hearing impairment, Talipes equinovarus, Decreased nerve conduction velocity, Reduc... OMIM:618733
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
3Q29 Microdeletion Syndrome
Six lumbar vertebrae, Pectus excavatum, Joint hyperflexibility, Pectus carinatum ORPHA:65286
Microphthalmia With Limb Anomalies
Tibial bowing, Abnormal hair morphology, Talipes equinovarus, Hand oligodactyly, Camptodactyly of... OMIM:206920
Tuberous Sclerosis Complex
Chronic kidney disease, Abnormality of the kidney, Renal angiomyolipoma, Chorioretinal hypopigmen... ORPHA:805
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Anemia, Pigmentary retinopathy, Optic atroph... ORPHA:90321
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Scoliosis, Missing ribs, Block vertebrae, Supernumer... ORPHA:50
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Abnormal pinna morphology, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossifica... OMIM:276820
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Protruding ear, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Low-set, posteriorl... ORPHA:2031
Zellweger Syndrome
Sensorineural hearing impairment, EEG abnormality, Hypospadias, Micrognathia, External ear malfor... ORPHA:912
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Supernumerary ribs, Sprengel anomaly OMIM:193500
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Bifid ribs, Sprengel anomaly, Narrow chest, Hemiverteb... ORPHA:1394
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Micrognathia, Hepatosplenomegaly, R... ORPHA:731
Occipital Horn Syndrome
Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Ab... ORPHA:198
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae ORPHA:3035
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... OMIM:304050
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Thomas Syndrome