Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Nacc1em1(IMPC)Hmgu HOM Early adult 1.35×10-15
increased mean corpuscular volume Nacc1em1(IMPC)Hmgu HOM Early adult 5.88×10-05
polycystic kidney Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
decreased total retina thickness Nacc1em1(IMPC)Hmgu HOM Early adult 2.24×10-11
short tibia Nacc1em1(IMPC)Hmgu HOM Early adult 1.30×10-05
abnormal auditory brainstem response Nacc1em1(IMPC)Hmgu HOM   Early adult 5.43×10-05
decreased grip strength Nacc1em1(IMPC)Hmgu HOM Early adult 1.98×10-05
abnormal retina morphology Nacc1em1(IMPC)Hmgu HOM Early adult 1.62×10-19
decreased bone mineral content Nacc1em1(IMPC)Hmgu HOM Early adult 5.66×10-05
hydrometra Nacc1em1(IMPC)Hmgu HOM Early adult 0.00
impaired glucose tolerance Nacc1em1(IMPC)Hmgu HOM Early adult 7.82×10-06

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

8 Images


XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Nacc1 mutations

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

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

The table below shows human diseases associated to Nacc1 by orthology or direct annotation.

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

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

Disease Similarity of
Matching phenotypes Source
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... ORPHA:3268
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Bardet-Biedl Syndrome 16
Hearing impairment, Renal agenesis, Hypogonadism, Recurrent otitis media, External genital hypopl... OMIM:615993
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Increased mean corpuscular... OMIM:300946
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Femoral-Facial Syndrome
Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis... ORPHA:1988
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... ORPHA:163665
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Male hypogonadism, Hypergonadotropic hypogonadism, Superior ri... OMIM:307500
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... ORPHA:40
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Retinal degeneration, Polydactyly, Ren... OMIM:615982
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Sacral dimple, Vertebral segmentation defect OMIM:618845
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Cervical spondylosis, Osteoarthritis, Spina bifida occulta OMIM:184300
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Odontochondrodysplasia 1
Mesomelia, Genu recurvatum, Metaphyseal cupping, Nephronophthisis, Micromelia, Irregular epiphyse... OMIM:184260
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri... ORPHA:1354
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... OMIM:620044
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Abnormal sacrum morphology, Scoliosis, Fused cervical vertebrae ORPHA:1436
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Amenorrhea, Fused thoracic verte... ORPHA:1445
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,... OMIM:619217
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Retinopathy OMIM:617562
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
RCAD (renal cysts and diabetes)
Multiple renal cysts, Diabetes mellitus DECIPHER:47
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Bardet-Biedl Syndrome 6
Hypospadias, Pigmentary retinopathy, External genital hypoplasia, Postaxial polydactyly, Renal cy... OMIM:605231
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Kyphosis, Bowing of limbs due to multiple fractures, Decreased c... OMIM:259440
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... OMIM:616959
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Kuskokwim Syndrome
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia/Hyp... ORPHA:1149
Christian Syndrome
Thoracic hemivertebrae, Scoliosis, Prominent metopic ridge, Fused cervical vertebrae OMIM:309620
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow c... OMIM:178110
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypogonadism, Decrea... ORPHA:2234
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Frontotemporal hypertrichosis, Large fleshy ears, Micrognathia, Decreased skull oss... OMIM:263210
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... ORPHA:1797
Rhyns Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Osteopenia, Hearing impairment,... ORPHA:140976
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Abnormal form of ... ORPHA:2635
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Cupped ear, Hearing impairment, Aplastic anemia, Persistence of hemog... OMIM:617052
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Azoospermia, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... OMIM:605274
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing im... OMIM:612562
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... ORPHA:313892
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Hypoplastic scapulae, Short distal phalanx of finger, Micromelia, ... OMIM:614091
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hearing impairment, Clinodactyly, Pancytopenia, Macrocytic ane... ORPHA:2169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Synostosis of carpal bones, Spina bifida occulta at L5, Spina bifi... OMIM:102510
Meckel Syndrome, Type 8
Low-set ears, Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Ambiguous genitalia, Poly... OMIM:613885
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge... ORPHA:93322
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Progressive sensorineural hearing impairment, Septat... ORPHA:2237
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi... ORPHA:96183
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci... OMIM:601382
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc... OMIM:609052
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Cryptorchidism, Short humerus, ... OMIM:607143
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Reduced sperm motility, S... OMIM:602271
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical curvature,... OMIM:312150
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Precocious puberty, Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibi... ORPHA:356961
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Acrorenal-Mandibular Syndrome
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter... OMIM:200980
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean... ORPHA:2760
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Micrognathia, Macroc... OMIM:612561
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Tiger tail banding, Pes cavus, Slow-growing ... OMIM:616943
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Short fourth metatarsal, Hypogonadism, Mesoaxial hand polydactyly, St... OMIM:615994
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Greenberg Dysplasia
Platyspondyly, Narrow chest, Abnormal pelvis bone ossification, Abnormal form of the vertebral bo... ORPHA:1426
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Abnormal helix morphology, Pigmentary retinopathy, Clitoral hypertrophy, Micrognat... OMIM:214110
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Short neck, Vert... ORPHA:2332
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ... OMIM:156530
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnormal cervical curvature,... OMIM:253290
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Hyperechogenic kidneys, Preaxial polydactyly, Micrognathia, Ulnar bowi... OMIM:617866
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity ORPHA:73229
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent Achilles reflex, Pes cavus, Sensorineural hearing impairment, Abnormal reti... ORPHA:1215
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Polycyth... OMIM:600501
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr... OMIM:618395
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Dilatation of the renal pelvis, Horseshoe ki... ORPHA:314588
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse... OMIM:236700
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Sensorineural hearing impairment, ... ORPHA:3320
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Hearing impairment, Micrognathia, Crypt... ORPHA:261250
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Trisomy 17P
Low-set ears, High anterior hairline, Hearing impairment, Micrognathia, Low posterior hairline, B... ORPHA:261290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism... ORPHA:3103
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Congenital hip dislocation, Dilatated internal auditory canal, Cupped ... OMIM:113650
Acrofacial Dysostosis Syndrome Of Rodriguez
Low-set ears, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of... OMIM:201170
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... OMIM:271650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Is... OMIM:611590
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Stillbirth, Short ribs, Generalized osteosclerosis, ... OMIM:215045
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum OMIM:619122
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... ORPHA:93351
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Meckel Syndrome 14
Low-set ears, Postaxial foot polydactyly, Microretrognathia, Micrognathia, Decreased calvarial os... OMIM:619879
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Acu... ORPHA:124
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Hepatosplenome... OMIM:614866
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Shwachman-Diamond Syndrome
Aplastic anemia, Hearing impairment, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid ... ORPHA:811
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Idiopathic Juvenile Osteoporosis
Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Rickets of the lower limbs... OMIM:600785
Immunodeficiency 96
Recurrent otitis media, Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia... OMIM:619774
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Endometriosis, Vertebral segmentation defect, Dyspareunia,... ORPHA:3109
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal rib mor... ORPHA:1486
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin ... ORPHA:552
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Stuve-Wiedemann Syndrome 1
Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bon... OMIM:601559
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle... OMIM:617405
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Arima Syndrome
Optic atrophy, Nephronophthisis, Postaxial foot polydactyly, Chorioretinal coloboma, Stage 5 chro... OMIM:243910
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly OMIM:258865
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Sparse eyebrow, Rhizomelia, Short tibia, Microretrognathia, Preaxial polydactyl... OMIM:616300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Tapered toe, Hypoglycemia, Abnormal foot morphology, Renal insufficiency, Knee flex... OMIM:608836
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hypogonado... ORPHA:377
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular epiphyses, Attenuation of retinal blood vessels, R... OMIM:619260
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Low-set ears, Alopecia, Horseshoe kidney, Abnormality of pattern visual evoked potentials, Microg... ORPHA:166035
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win... OMIM:609945
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly, Retinopathy OMIM:614970
Beta-Thalassemia Intermedia
Osteopenia, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypo... ORPHA:231222
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v... OMIM:609616
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne... ORPHA:93267
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Hypoautoflu... OMIM:250410
Hajdu-Cheney Syndrome
Low-set ears, Micrognathia, Genu valgum, Cryptorchidism, Fibular bowing, Absent frontal sinuses, ... OMIM:102500
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,... OMIM:263520
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... ORPHA:915
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasi... ORPHA:168549
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy, Polydactyly OMIM:614465
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope... OMIM:127550
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Retinal ... ORPHA:1475
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po... OMIM:258860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... OMIM:272460
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Premature graying of hair, Splenomegaly, Thrombocytopenia, Clu... OMIM:620367
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Joint dislocation, Camptodactyly of finger, Ab... ORPHA:628
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
15q26 overgrowth syndrome
Low-set ears, High anterior hairline, Renal agenesis, Duplication of renal pelvis, Camptodactyly ... DECIPHER:81
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst, Epiphyseal stippling OMIM:614870
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Renal hypoplasia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, I... OMIM:105650
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Hydrometrocolpos, Hypogonadism, Polydactyly, Hydronephro... OMIM:615989
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Ambiguous genitalia, Limb undergrowth OMIM:614209
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Interphalangeal joint contracture of finger, Partial fusion of carpals... OMIM:305620
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Broad finger, Long eyelashes, Low posterior hairline, Optic ... OMIM:617523
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Splenomegaly, Polycystic kidney dysplasia, Hip dislocation OMIM:608776
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Talipes equi... OMIM:134780
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Short thorax, Camptodactyly of finger, Rib segmentation ab... ORPHA:2311
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Sparse lateral eyebrow, Abnormal female external geni... OMIM:277000
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar deviation of the wrist... OMIM:253000
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Stillbirth, Thoracic hypoplasia, Short ribs, N... OMIM:269250
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria... OMIM:120330
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Missing ribs, Sc... ORPHA:3027
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorch... OMIM:613390
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Ulbright-Hodes Syndrome
Low-set ears, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Micrognathia, Cryptor... ORPHA:3404
Larsen Syndrome
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Tracheomalaci... OMIM:150250
White Forelock With Malformations
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... ORPHA:2475
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... ORPHA:582
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300009
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr... ORPHA:96149
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Anemia, Renal c... OMIM:613824
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... ORPHA:2319
3M Syndrome
Thin ribs, Congenital hip dislocation, Delayed skeletal maturation, Enlarged thorax, Increased ve... ORPHA:2616
Basal Cell Nevus Syndrome 1
Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis, Short ribs, Supernumerary ribs, D... OMIM:109400
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria OMIM:277410
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Joint hypermo... OMIM:602196
Joubert Syndrome 39
Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Retinal ... OMIM:619562
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... ORPHA:2759
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m... ORPHA:93346
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Uterus didelphys, Short tibia, Preaxial polydactyly, Septate vagina, Micrognathia, ... OMIM:617925
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Postaxial polydactyly, Renal cyst,... OMIM:611560
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300554
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shorten... OMIM:268305
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Osteopenia, Splenic cyst, Splenomegaly, Sensorineural hearing impairment, Renal cys... OMIM:610199
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u... OMIM:119100
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Joint hypermobility, Decreased... ORPHA:2097
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, L... OMIM:203500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Joint hypermobility, Cervical C2/C3 vertebral... OMIM:618000
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... ORPHA:1724
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasi... ORPHA:93352
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Osteogenesis Imperfecta, Type Iii
Thin ribs, Kyphosis, Bowing of limbs due to multiple fractures, Biconcave vertebral bodies, Decre... OMIM:259420
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Cryptorchidism,... OMIM:210710
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Short ribs, ... OMIM:616546
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... OMIM:608728
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Generalized osteoporos... OMIM:617952
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Hypogonadotropic hypogonadism, Supernumerary ribs, Rib fusion,... OMIM:206900
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Say Syndrome
Short distal phalanx of finger, Macrotia, Micrognathia, Ulnar deviation of the 3rd finger, Proxim... OMIM:181180
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short neck, Short thorax ORPHA:93298
Phelan-Mcdermid Syndrome
Hearing impairment, Long eyelashes, Thick eyebrow, Vesicoureteral reflux, Micrognathia, Protrudin... OMIM:606232
Orofaciodigital Syndrome Type 2
Short tibia, Finger syndactyly, Micrognathia, Broad first metatarsal, Cone-shaped epiphyses of th... ORPHA:2751
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Holt-Oram Syndrome
Abnormal clavicle morphology, Joint stiffness, Down-sloping shoulders, Radioulnar synostosis, Spr... ORPHA:392
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes... OMIM:601455
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Renal cyst, Gonadal dysgenesis, male, Hypospadias OMIM:231060
Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont... OMIM:177170
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Abno... ORPHA:239
Orofaciodigital Syndrome I
Low-set ears, Alopecia, Dry hair, Microretrognathia, Hearing impairment, Clinodactyly, Radial dev... OMIM:311200
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231226
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Hypoglycemia, Lacticaciduria, Polycystic kidney dys... ORPHA:26791
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Recurrent fractures, Joint hypermobility, Wormian bones, A... ORPHA:2050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hypoketotic hypoglycemia, Stage 5 chronic kidney disease, Myoglobinuria, Renal t... ORPHA:157
Atelosteogenesis Type I
Low-set ears, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes eq... ORPHA:1190
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Osteo... OMIM:602111
Satoyoshi Syndrome
Alopecia universalis, Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal hair mor... ORPHA:3130
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvi... OMIM:208500
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Clinodactyly, Abnormality of the ureter, Micrognathia, ... OMIM:249000
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Koolen-De Vries Syndrome
Kyphosis, Vertebral segmentation defect, Joint hypermobility, Pectus excavatum, Vertebral fusion,... ORPHA:96169
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231214
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Joint stiffness, Butte... ORPHA:2876
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Bilateral sensorineural... OMIM:614527
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Atelosteogenesis, Type I
Narrow chest, Elbow dislocation, Stillbirth, Knee dislocation, Thoracic hypoplasia, Thoracic plat... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Joint hypermobility, Decreased calvarial ossification, W... OMIM:616229
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Abnormality of the kidney, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2021
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Floating-Harbor Syndrome
Low-set ears, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Broad fingertip, Disl... ORPHA:2044
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Joint hypermobility, Missing ribs, Abnorma... ORPHA:1488
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Hypogonadotropic hyp... ORPHA:3068
Prune Belly Syndrome
Congenital hip dislocation, Decreased fertility, Vertebral segmentation defect, Abnormal rib morp... ORPHA:2970
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... OMIM:619227
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal insufficiency, Myoglobinu... ORPHA:228308
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenome... OMIM:266920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Omodysplasia 2
Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Recurrent otitis media, Rhizomelic ar... OMIM:164745
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Thin ribs, Decreased skull ossification OMIM:300863
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:223800
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Delayed cranial suture closure, Joint hypermobility, S... ORPHA:2484
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Joint hypermobility, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel ... OMIM:213980
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs, Dense calvaria OMIM:252900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Joubert Syndrome 35
Low-set ears, Highly arched eyebrow, Multicystic kidney dysplasia, Renal fibrosis, Recurrent urin... OMIM:618161
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovar... ORPHA:567
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Micrognathia, Vesicoureteral reflux, Cryptorchidism, Renal hypoplas... ORPHA:1166
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, Abnormal pelvic girdle bone morphology, E... ORPHA:3378
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Thin ... OMIM:616294
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Bowing of the long bones, Renal cyst, Talipes equinovarus, Post... OMIM:614815
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchi... OMIM:268300
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Renal insufficiency, Hematuria, Renal cyst, Retinal hemorrhage OMIM:611773
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Pes... OMIM:600705
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Splenomegaly, Ur... OMIM:208540
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... ORPHA:79345
Ogden Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Cryptorchidism, Polycystic kidney dysplasia, ... OMIM:300855
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia, Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Aniso... ORPHA:300298
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral a... OMIM:148050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... OMIM:252930
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi... OMIM:228520
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairl... OMIM:122470
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Scapul... OMIM:617796
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Renal hypoplasia, Microretrognathia, Ureteral agenesis, 2-3 toe syndactyly, Renal c... OMIM:236500
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria OMIM:252920
Genitopatellar Syndrome
Low-set ears, Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Hypoplastic ilia... ORPHA:85201
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Talipes equinovarus, Short tibia, Short femur OMIM:620306
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Hypogonadotropic hypogonadism, Wormian bones, Flat acetabular roof, Fused cervic... OMIM:617159
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Stillbirth OMIM:276950
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Thin ribs, Kyphosis, Barrel-shaped chest, Decreased calvarial ossifica... OMIM:610915
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ri... OMIM:307800
Postaxial Acrofacial Dysostosis
Radioulnar synostosis, Congenital hip dislocation, Supernumerary vertebrae, Pectus excavatum OMIM:263750
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Increased urine alpha-ketoglutarate concentration, Short 5th finger,... OMIM:220500
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal morphology of... ORPHA:1834
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Joint hypermobility, Pectus excavatum, Vertebral fusion, Scoliosis, ... OMIM:610443
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,... OMIM:253010
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Carpal syno... ORPHA:90652
Estrogen Resistance
Osteopenia, Breast aplasia, Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia... OMIM:615363
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Abnormal rib morphology,... ORPHA:474
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Stillbirth OMIM:200610
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Shoulder flexion contracture, Hearing impairment, Ulnar devi... OMIM:193700
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndactyly... OMIM:206920
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Opt... OMIM:608940
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Platyspondyly, Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull b... OMIM:224300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Syndromic Diarrhea
Renal hypoplasia, Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypoplasia of ... ORPHA:84064
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Camptodactyly, Ulnar deviation of ... OMIM:614175
Mucopolysaccharidosis Type 6
Broad ribs, Joint stiffness, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Uterus didelphys, Finger syndactyly, Rudimentary fibula, Low-set, posterior... ORPHA:958
Optic atrophy, Alopecia, Fair hair, Long eyelashes, External genital hypoplasia, Overlapping fing... ORPHA:79330
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Decreas... ORPHA:97362
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Abnormal form of the vertebr... ORPHA:3258
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Coxa valga, Sensorineural hearing impairment OMIM:109120
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Cockayne Syndrome A
Dry hair, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Sensorineu... OMIM:216400
3Q29 Microdeletion Syndrome
Pectus carinatum, Pectus excavatum, Six lumbar vertebrae, Joint hypermobility ORPHA:65286
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Decreased ... OMIM:618733
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathi... ORPHA:3301
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Low-set ears, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Tali... OMIM:119800
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Camptodactyly,... OMIM:227330
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Foot joint contracture, Hearing impairm... ORPHA:90321
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Talipes equinovarus, Thrombocytopenia, Cu... OMIM:619980
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Insulin insensitivity, Bifid scrotum, Bilateral cryptorchidism, Azoospermia... ORPHA:90797
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, Abnormal foot mo... ORPHA:171929
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Cryptorchidism, Short hume... OMIM:258315
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Sparse eyebrow, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Cr... ORPHA:73246
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Epiphyseal stippling, Sensorineural hearing impairment, Renal cyst,... OMIM:601539
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, S... ORPHA:50
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism, Abnormal antihelix mo... ORPHA:261318
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Chronic kidney disease, Retinal astrocytic hamartoma, Renal insuf... ORPHA:805
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Acromelic Frontonasal Dysostosis
Low-set ears, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydact... OMIM:603671
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Lambdoidal craniosynostosis, Nephrocalcinosis, Osteopenia, Hydroureter, Ureteral st... OMIM:615398
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Occipital Horn Syndrome
Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip... ORPHA:198
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Zellweger Syndrome
Optic atrophy, Clitoral hypertrophy, Multicystic kidney dysplasia, Micrognathia, Epiphyseal stipp... ORPHA:912
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Barrel-shaped chest, Decreased skull... OMIM:215140
Waardenburg Syndrome, Type 1