Gene Summary

Name:
tetratricopeptide repeat domain 28
Synonyms:
TPRBK,  2310015L07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 3.63×10-05
abnormal zygomatic bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
increased red blood cell distribution width Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 5.17×10-14
abnormal maxilla morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased body length Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 8.74×10-10
increased lymphocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.61×10-05
decreased circulating cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 6.09×10-08
increased circulating alkaline phosphatase level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 5.36×10-06
short tibia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-12
decreased circulating HDL cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.80×10-11
preweaning lethality, incomplete penetrance Ttc28tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased leukocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 4.58×10-06
decreased prepulse inhibition Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 7.16×10-06
abnormal pelvic girdle bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.69×10-10
abnormal vertebrae morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
increased grip strength Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.07×10-14
abnormal cranium morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 7.41×10-12
increased heart weight Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 6.76×10-06
vertebral fusion Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12

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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 Skull Dorso Ventral Orientation

16 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Histopathology

Images

6 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Human diseases caused by Ttc28 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttc28 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Lower limb pain, Co... ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bone pain, Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Hypersplenism, Anemia, Th... OMIM:610539
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
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... ORPHA:1802
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Dextrocardia, Vertebral fusion OMIM:221950
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Flexion contracture, Retrognathia, Micrognathia, Anisocytosis, Camptodactyly, Rocke... OMIM:604273
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Double outlet right ventricle, Bicuspid aortic valve, Talipes equi... OMIM:618845
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Patellar dislocation, Clinoda... ORPHA:3320
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Horizontal... OMIM:108721
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Ad... OMIM:618363
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Craniosynostosis, Short tibia, Ap... ORPHA:356961
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syn... OMIM:263540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... OMIM:606612
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Small hand, Abnormal vertebral segmentation and ... ORPHA:915
Squalene Synthase Deficiency
Bicuspid aortic valve, 2-3 toe syndactyly, Retrognathia, Micrognathia, Slender long bone, Increas... OMIM:618156
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Contractur... OMIM:601559
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
Verheij Syndrome
Abnormal cardiac septum morphology, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clino... OMIM:615583
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Situs inversus totalis, Dextr... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sy... OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced bone mineral density,... ORPHA:2370
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... ORPHA:485
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... ORPHA:429
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Brachydactyly, Scoliosis, Carious teeth, Mandibu... ORPHA:377
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... ORPHA:2916
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Micrognathia, Short nec... ORPHA:2522
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Microphthalmia With Limb Anomalies
Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, Short long bone, Elbow dislocati... ORPHA:1106
Potocki-Lupski Syndrome
Dental malocclusion, Atrial septal defect, Micrognathia, Scoliosis, Hypocholesterolemia, Patent f... OMIM:610883
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, 2-3 toe syndactyly, Butterfly vertebrae, Hyperplasia of the maxilla, Scolio... ORPHA:313892
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Long foot,... OMIM:305620
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short ribs, Hypoplasia of the radius, Sho... OMIM:607143
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Micrognathia, Abnor... OMIM:312150
Kbg Syndrome
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Th... ORPHA:2332
Pycnodysostosis
Carious teeth, Rhizomelia, Hypoplasia of the maxilla, Spondylolisthesis, Increased bone mineral d... ORPHA:763
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... OMIM:259600
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Clinodactyly, Thoracic hemivertebrae... ORPHA:1445
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Metatarsal osteolysis, Wrist pain, Micrognathia, Pes cavus, Osteopen... OMIM:166300
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular septal defect, Ge... OMIM:201000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... OMIM:607155
Atelosteogenesis Type Iii
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Talipes equi... ORPHA:56305
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Short neck... OMIM:251230
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Micrognathia, Abnor... OMIM:253290
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... OMIM:618469
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Malar flattening, Steatorrhea, Osteoporosis, Hypocholesterolemia OMIM:266510
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... OMIM:605274
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Cohen Syndrome
Lumbar hyperlordosis, Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, Joi... OMIM:216550
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Omodysplasia 1
Short neck, Ventricular septal defect, Rhizomelia, Anterolateral radial head dislocation, Increas... OMIM:258315
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Spondylocarpotarsal Synostosis Syndrome
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Epiphyse... OMIM:272460
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Upper limb undergrowth, Br... ORPHA:439822
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Bowing of the long bones, Elbow dislocation, Carpal synostosi... ORPHA:90652
Maxillonasal Dysplasia
Short distal phalanx of finger, Vertebral clefting, Scoliosis, Patchy distortion of vertebrae, Hy... ORPHA:1248
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... OMIM:268310
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... ORPHA:950
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... ORPHA:93307
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... OMIM:231070
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Mitral valve prolap... ORPHA:90653
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Delayed skeletal ... OMIM:609945
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... OMIM:616549
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Greenberg Dysplasia
Hepatomegaly, Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, Micromelia,... OMIM:215140
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Missing ribs, Vertebral... OMIM:122600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Absent glenoid fossa, Clinodactyly of the 3rd finger,... ORPHA:96334
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Platyspondyly, Amelogenesis imperfecta, Mitral valve pr... OMIM:601216
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal striations, Short femoral neck,... OMIM:608154
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Micrognathia, Hemihypotrophy of lower limb, Fused cervical vertebrae OMIM:108450
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Epiphyseal stippling of ... ORPHA:79345
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossification, Muscular ventric... ORPHA:79324
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... ORPHA:1427
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Chromosome 8Q22.1 Duplication Syndrome
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Limitation of joint mobility... OMIM:151200
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Abnormality of the ankles, Scoliosis, Cuboidal metacarpal, Elbow ... ORPHA:968
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... ORPHA:1798
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Lateral Meningocele Syndrome
Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Malar flattening, Micrognathia, Short n... OMIM:130720
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Abnormal mitral valve morphology,... ORPHA:1724
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Part... ORPHA:363417
Andersen Cardiodysrhythmic Periodic Paralysis
Small finger, Hypoplasia of the maxilla, Delayed skeletal maturation, Clinodactyly of the 5th fin... OMIM:170390
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocytosis, Hepatosplenomegaly, ... OMIM:618278
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration... OMIM:612852
Premature Aging Syndrome, Penttinen Type
Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, Scoliosis, Slender long ... OMIM:601812
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Talipes equinovarus, Hyperbili... ORPHA:14
Cleidocranial Dysplasia
Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, Genu valgum, Ab... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Thoracomelic Dysplasia
Short ribs, Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu v... ORPHA:1803
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Abnormal cardiac septum morphology, Bicuspid aortic valv... ORPHA:96169
Gorham-Stout Disease
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Osteomyelitis, Abnormal ... ORPHA:73
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Rickets OMIM:607765
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Malar flattening, Prominence of the premaxilla, Congenital hi... ORPHA:2412
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno... OMIM:307800
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... ORPHA:93346
Lamb-Shaffer Syndrome
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia ORPHA:530983
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Congenital Erythropoietic Porphyria
Erythrodontia, Splenomegaly, Increased erythrocyte protoporphyrin concentration, Anisocytosis, Le... ORPHA:79277
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micrognathia, Neonatal death, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Kyphoscoliosis, Short ribs, Hemivertebrae, Vertebral fusion, D... OMIM:109400
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Calvarial hy... OMIM:101800
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Myhre Syndrome
Cone-shaped epiphysis, Short neck, Platyspondyly, Ventricular septal defect, Hypoplasia of the ma... OMIM:139210
Lujan-Fryns Syndrome
Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Scoli... ORPHA:776
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed skeletal maturation, Decreased LDL cholesterol concentration, Hypocholesterolemia, Decrea... OMIM:616834
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defect, Fused cervical... OMIM:214300
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Cantu Syndrome
Delayed skeletal maturation, Bicuspid aortic valve, Broad first metatarsal, Congenital hypertroph... OMIM:239850
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... ORPHA:3027
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Hepatomegaly, Flexion contracture, Steatorrhea, Osteopenia, Thrombocytosis, Hypocholest... OMIM:212065
Codas Syndrome
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Scoliosis, Abnormal form of t... ORPHA:1458
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
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hyporeflexia of lower l... ORPHA:96180
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... ORPHA:198
Fanconi Anemia, Complementation Group I
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, V... OMIM:609053
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Sickle Cell Anemia
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... ORPHA:232
Kniest Dysplasia
Enlarged joints, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Dumbbell-shaped long ... OMIM:156550
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Micrognathia, Congenital hip dislocation, C... OMIM:244450
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Accelerated skeletal maturation, Abnormally oss... ORPHA:175
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Mic... ORPHA:1147
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Wormia... ORPHA:2097
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Bone pain, Osteomyelitis, Elevated circulating C-reactive protein concentration, Scoliosis, Arthr... ORPHA:324964
Alkaptonuria
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... OMIM:203500
Koolen-De Vries Syndrome
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Slender finger, Prominent fingertip pads, Atr... OMIM:610443
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodactyly, Postaxial hand ... OMIM:136760
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... ORPHA:1328
Martsolf Syndrome 1
Finger joint hypermobility, Broad fingertip, Hypoplasia of the maxilla, Talipes equinovarus, Slen... OMIM:212720
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
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:264700
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Cubitus val... ORPHA:314795
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Atrioventricular canal defect, Complete dupli... ORPHA:2751
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent ... OMIM:228520
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Beaking of vertebral bodies, Talipes equinovarus, Atrial septal defect, Craniosy... OMIM:213980
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metacarpal morph... ORPHA:93262
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Broad finger, Delayed eruption of teeth, Tapered finger, Advanc... ORPHA:192
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... ORPHA:958
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Clinodac... ORPHA:85279
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Abnormal... OMIM:118100
Kagami-Ogata Syndrome
Kyphoscoliosis, Hepatomegaly, Atrial septal defect, Flexion contracture, Splenomegaly, Retrognath... OMIM:608149
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Abnormality of ... ORPHA:1529
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Atrioventricular canal defect, Short neck, Broad hallux, Cervical hemivertebrae, V... ORPHA:508498
Cohen Syndrome
Kyphosis, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Micrognat... ORPHA:193
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista... ORPHA:2662
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Bone pain, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Bone cyst, Joint dislocation, Abn... ORPHA:93160
Split-Hand/Foot Malformation 3
Split hand, Microretrognathia, Hypoplasia of the maxilla, Camptodactyly OMIM:246560
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Accelerated skeletal maturation, Congenital hip dislocation, Short neck, Ventricula... ORPHA:373
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Metaphyseal irregular... OMIM:277440
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Scl... ORPHA:289176
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eruption of ... OMIM:143095
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Orotic Aciduria
Hypochromia, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventri... OMIM:258900
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... ORPHA:710
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ul... OMIM:164900
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Recurrent fractures, Dentinogenesis imperfecta, Micrognathia, Decreased ... OMIM:259420
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal death, Hypoplasi... OMIM:227270
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Flexion contracture, Scoliosis, Long fingers, Tapered finger, Hypoplasia of t... OMIM:218000
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
20P12.3 Microdeletion Syndrome
Atrial septal defect, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxilla ORPHA:261295
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Accelerated skeletal maturation, Craniosynostosis, Talipes equinovalgus, Metacarpophalangeal join... OMIM:245600
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis, Long foot, Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Dubowitz Syndrome
Delayed skeletal maturation, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Aplastic a... OMIM:223370
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Eruption failure, Delayed tarsal ossification, Dela... OMIM:600002
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Brachydactyly, Syndactyly, Short 5th finger,... OMIM:305400
Robinow Syndrome
Tricuspid atresia, Hemivertebrae, Ventricular septal defect, Bifid distal phalanx of the thumb, A... ORPHA:97360
Malan Syndrome
Accelerated skeletal maturation, Retrognathia, Scoliosis, Advanced eruption of teeth, Long finger... OMIM:614753
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Micrognathia, Flared me... OMIM:616897
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Camptoda... OMIM:227330
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hy... ORPHA:1307
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Mohr Syndrome
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Agenes... OMIM:252100
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... OMIM:122880
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Ven... OMIM:101200
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Brachydactyly, Advanced eruption of teeth,... ORPHA:1133
Nager Syndrome
Joint stiffness, Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasi... ORPHA:245
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... OMIM:306955
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot,... OMIM:263520
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Abnormal form of the vertebral bodies, Limb underg... ORPHA:3429
Cinca Syndrome
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... ORPHA:1451
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Epiphyseal stipp... OMIM:270400
Van Maldergem Syndrome 2
Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short fourth metatar... OMIM:615546
Shprintzen-Goldberg Syndrome
Joint stiffness, Craniosynostosis, Arachnodactyly, Micrognathia, Camptodactyly of finger, Retrogn... ORPHA:2462
Wolf-Hirschhorn Syndrome
Craniofacial asymmetry, Radioulnar synostosis, Ventricular septal defect, Delayed skeletal matura... OMIM:194190
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Malar ... ORPHA:1788
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enlarged kidney,... OMIM:252500
Van Maldergem Syndrome 1
Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short fourth metatar... OMIM:601390
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Abnormal... ORPHA:3035
Van Den Ende-Gupta Syndrome
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... OMIM:600920
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Right ventricular hypertrophy, Brachydactyl... OMIM:614261
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Genu valgum, Hypoplasia of the maxilla, Delayed skeletal mat... OMIM:224690
Duane Retraction Syndrome
Talipes equinovarus, Hypoplasia of the radius, Micrognathia, Absent radius, Short neck, Brachydac... ORPHA:233
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Malar flattening, Abnormality of the vertebral column, Hypoplasia of the maxilla, Hip dislocation... OMIM:109120
Duane-Radial Ray Syndrome
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus... OMIM:607323
Cinca Syndrome
Patellar overgrowth, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... OMIM:607115
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, Syndactyly, Short middle phalanx of toe, Broad hallux,... OMIM:101600
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... OMIM:206920
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Postaxial polydactyly, Limb undergrowth, Genu valgum, Complete atr... OMIM:619142
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Recurrent fractures, Femoral r... OMIM:610915
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... ORPHA:289157
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Short femoral neck, Tapered finger, Tetralogy of Fallot, V... OMIM:617159
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... OMIM:259720
Kbg Syndrome
Delayed skeletal maturation, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, C... OMIM:148050
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Dental malocclusion, Talipes equinovarus, Genu recurvatum, Joint contract... OMIM:182212
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:300554
Spondylospinal Thoracic Dysostosis
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita OMIM:601809
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Dental malocclusion, Macrodontia of permanent maxillary centra... OMIM:257850
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Subaortic Stenosis--Short Stature Syndrome
Short toe, Malar flattening, Membranous subvalvular aortic stenosis, Small hand, Short neck, Broa... OMIM:271960
Cantú Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Deep plantar creases, Accelerated sk... ORPHA:1517
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Prolidase Deficiency
Hepatomegaly, Abnormal hip bone morphology, Arachnodactyly, Micrognathia, Splenomegaly, Reduced b... ORPHA:742
Hajdu-Cheney Syndrome
Hepatomegaly, Osteopenia, Short neck, Biconcave vertebral bodies, Ventricular septal defect, Oste... ORPHA:955
Andersen-Tawil Syndrome
2-3 toe syndactyly, Persistence of primary teeth, Small hand, Micrognathia, Scoliosis, Dilated ca... ORPHA:37553
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Lowry-Maclean Syndrome
Widely patent coronal suture, Atrioventricular canal defect, Retrognathia, Micrognathia, Craniosy... ORPHA:2409
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Flexion contracture, Arachnodactyly, Thoracic kyphoscoliosis, Broad hallux, Broad thumb, Hyperext... ORPHA:481152
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Hepatomegaly, Hyperbilirubinemia, Lymphocyt... ORPHA:1667
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Short neck, Sandal gap, Hypoplasia of the maxilla, Lim... ORPHA:178303
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Marshall-Smith Syndrome
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... OMIM:602535
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anem... ORPHA:31150
Jeune Syndrome
Cone-shaped epiphysis, Micromelia, Brachydactyly, Postaxial hand polydactyly, Postaxial foot poly... ORPHA:474
Apert Syndrome
Vertebral segmentation defect, Micromelia, Delayed eruption of teeth, Broad thumb, Hypoplasia of ... ORPHA:87
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
3Mc Syndrome 2
Prominence of the premaxilla, Craniosynostosis, Abnormality of the vertebral column, Limited elbo... OMIM:265050
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of... ORPHA:3145
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Cario... OMIM:114290
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hand pol... OMIM:200980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Block ve... OMIM:271520
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... ORPHA:1508
Weill-Marchesani Syndrome 1
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve ste... OMIM:277600
Antley-Bixler Syndrome
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... ORPHA:83
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S... ORPHA:231222
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancyto... ORPHA:86843
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial o... OMIM:608571
Aicardi Syndrome
Butterfly vertebrae, Prominence of the premaxilla, Small hand, Scoliosis, Missing ribs, Block ver... ORPHA:50
Craniolenticulosutural Dysplasia
High iliac wing, Scoliosis, Delayed eruption of teeth, Joint hyperflexibility, Carious teeth, Pes... ORPHA:50814
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Fibrous dysplasia... ORPHA:352540
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced ... ORPHA:3079
Intellectual Developmental Disorder, Autosomal Recessive 68
Pes planus, Hypoplasia of the maxilla OMIM:618302
Weill-Marchesani Syndrome 2
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve ste... OMIM:608328
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes calcaneovarus, Short distal phalanx of finger, Talipes equinovarus, Flexion contracture, ... OMIM:300534
Fucosidosis
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Ab... OMIM:230000
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Distal 17P13.1 Microdeletion Syndrome
Generalized joint laxity, Retrognathia, Arachnodactyly, Limited elbow movement, Limitation of kne... ORPHA:319171
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Muscular ventricular septal defect, Retrognathia, Spina bifida occulta, Fuse... OMIM:619227
Acromesomelic Dysplasia 3
Delayed skeletal maturation, Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes... OMIM:609441
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Malar flattening, Coronal craniosynostosis, Micrognathia, Hypoplasia of the... OMIM:241310
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytos... ORPHA:77297
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Proximal radio-ulnar synostosis, Delayed crania... ORPHA:794
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Secundum atrial septal defect, Hypoplas... OMIM:142900
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... OMIM:182250
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia ORPHA:514
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Hypoplasia of the maxilla ORPHA:207
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Ivic Syndrome
Joint stiffness, Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of... ORPHA:2307
Myhre Syndrome
Abnormal cardiac septum morphology, Craniofacial hyperostosis, Joint stiffness, Large iliac wing,... ORPHA:2588
Cerebrofacioarticular Syndrome
Talipes equinovarus, Tracheomalacia, Pulmonic stenosis, Micrognathia, Osteopenia, Syndactyly, Cam... ORPHA:314679
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal hip bone morphology, Genu varum, Carious teeth, Hypoplasia of the zygomatic bone, Mandib... ORPHA:1110
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Micrognathia, Hypoplasia of the thymus, ... OMIM:617022
Meier-Gorlin Syndrome 5
Micrognathia, Prominent metopic ridge, Irregular femoral epiphysis, Hypoplasia of the capital fem... OMIM:613805
Attrv122I Amyloidosis
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Le... ORPHA:85451
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decr... OMIM:619652
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:300009
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Micrognathia, Short neck, Abnormality of the spleen, Scoliosis, Ab... ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Arachnodactyly, Micrognathia, Hyperextensibility of th... OMIM:309520
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Joint stiffness, Brachydactyly, Hypoplasia of the zygomatic bone,... ORPHA:1295
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Patent foramen ovale, Clinodactyly, Metatarsus adductus, Neonatal hype... ORPHA:293939
Meier-Gorlin Syndrome 3
Coxa vara, Talipes equinovarus, Microretrognathia, Short ribs, Tracheomalacia, Micrognathia, Apla... OMIM:613803
Refractory Anemia With Excess Blasts
Bone pain, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnor... ORPHA:86839
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of... OMIM:309350
Stickler Syndrome
Platyspondyly, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morphology, Hypoplasia... ORPHA:828
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Craniosynostosis, Retrognathia, Short neck, Tapered finger, Campto... OMIM:608156
Aicardi Syndrome
Butterfly vertebrae, Prominence of the premaxilla, Hemivertebrae, Block vertebrae, Scoliosis, Mis... OMIM:304050
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... OMIM:211350
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Microretrognathia, Small hand, Brachydactyly, Spina bifida occult... ORPHA:1786
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Accelerated skeletal maturation, Malar flattening, Short ribs, Incr... ORPHA:3144
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of prim... OMIM:616367
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... ORPHA:79113
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Atrial septal defect, Atrioventricul... ORPHA:289
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla OMIM:618737
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Ventricular septal defect, Vertebral hypoplasia, Missing ribs... OMIM:206900
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A... ORPHA:321
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Broad hallux, Ventricular septal defect, Hypoplasia of the maxilla, Leu... OMIM:180849
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Hypoplasia of the zygomatic bone, Genu valgum, Cubitus valgus, Mandibular prognathia, Joint hyper... ORPHA:1778
Frontometaphyseal Dysplasia 2
Dislocated radial head, Ulnar deviation of the hand, Bicuspid aortic valve, Talipes equinovarus, ... OMIM:617137
Harrod Syndrome
Kyphosis, Dental malocclusion, Arachnodactyly, Scoliosis, Abnormal shoulder morphology, Abnormal ... ORPHA:2115
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Slender long bone, Hypoplasia of the maxilla, Patellar aplasia, De... OMIM:613804
Dyskeratosis Congenita
Avascular necrosis, Recurrent fractures, Taurodontia, Coarse metaphyseal trabecularization, Hepat... ORPHA:1775
Severe Oculo-Renal-Cerebellar Syndrome
Malar prominence, Scoliosis, Hypoplasia of the zygomatic bone, Sandal gap, Mandibular prognathia,... ORPHA:2715
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short toe, Short phalanx of finger, Hypoplasia of the maxilla, Short metatarsal, Short metacarpal OMIM:211370
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Marshall Syndrome
Malar flattening, Micrognathia, Osteoarthritis, Hypoplasia of the zygomatic bone, Hypoplastic fro... ORPHA:560
Bartsocas-Papas Syndrome 1
Absent thumb, Short neck, Hypoplasia of the maxilla, Pterygium, Talipes equinovarus, Flexion cont... OMIM:263650
Crouzon Syndrome
Coronal craniosynostosis, Sagittal craniosynostosis, Hypoplasia of the maxilla, Abnormality of th... OMIM:123500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Hepatomegaly, Arachnodactyly, Micrognathia, Severe B lymphocytopenia, Retrognath... ORPHA:83617
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Abnormality of the musculat... ORPHA:268882
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Camptodactyly Syndrome, Guadalajara, Type I
Horizontal sacrum, Twelfth rib hypoplasia, Delayed skeletal maturation, Absent frontal sinuses, S... OMIM:211910
Cowden Syndrome 1
Kyphosis, Lymphopenia, Micrognathia, Scoliosis, Palmoplantar hyperkeratosis, Hypoplasia of the ma... OMIM:158350
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Scoliosis, Hyp... ORPHA:391474
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Atrial septal defect, Joint hypermobility, Muscular ventricular septal defect,... OMIM:157800
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Cardi... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase concentration,... OMIM:618838
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Chops Syndrome
Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Splenomegaly, Tracheomalacia,... OMIM:616368
Orofaciodigital Syndrome X
Hand oligodactyly, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... OMIM:165590
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Trisomy 13
Ectrodactyly, Kyphosis, Atrial septal defect, Malar flattening, Scoliosis, Postaxial hand polydac... ORPHA:3378
Gapo Syndrome
Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Abnormal form of the vertebral b... ORPHA:2067
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Retrognathia, Femoral bowing, Micrognathia, Hypoplasia of the maxil... OMIM:616462
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Abnormal metacarpal morphology, Abnorma... ORPHA:2095
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Delayed closure of the anterior fontanelle, Clinodactyly of the 5th fi... OMIM:300373
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Short neck, Decreased c... OMIM:276820
Charge Syndrome
Hemivertebrae, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Radial ... OMIM:214800
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Pulmonary valve atresia, Arachnodactyly, Ventricular septal defect, Hyp... ORPHA:96129
Aarskog Syndrome, Autosomal Dominant
Proximal finger joint hyperextensibility, Genu recurvatum, Hepatomegaly, Flexion contracture, Bra... OMIM:100050
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla OMIM:167730
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Ventricular sept... ORPHA:1780
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Cowden Syndrome 5
Kyphosis, Micrognathia, Scoliosis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla OMIM:615108
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Retrognathia, Micrognathia, Camptodactyly of fi... ORPHA:2554
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental enamel morphology, Micrognathia, Palmoplantar hyperkeratosis, Hyperlordosis, Cari... ORPHA:3253
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Dental malocclusion, Supernumerary tooth, Malar flattening, Impa... OMIM:211380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Micro... ORPHA:444077
Chondrodysplasia-Disorder Of Sex Development Syndrome
Increased skull ossification, Micromelia, Short phalanx of finger, Abnormal shoulder morphology, ... ORPHA:1422
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Cleft Lip/Palate
Dental malocclusion, Agenesis of lateral incisor, Abnormality of dental eruption, Hypoplasia of t... ORPHA:199306
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Combined Immunodeficiency Due To Zap70 Deficiency