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 circulating HDL cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.69×10-12
decreased circulating cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.92×10-08
increased circulating alkaline phosphatase level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 4.57×10-06
abnormal maxilla morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal zygomatic bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
increased leukocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 4.85×10-06
decreased bone mineral density Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 3.64×10-05
abnormal cranium morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 7.41×10-12
short tibia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-12
abnormal vertebrae morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
vertebral fusion Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
increased grip strength Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.34×10-12
decreased body length Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 8.72×10-10
increased lymphocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.67×10-05
preweaning lethality, incomplete penetrance Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased red blood cell distribution width Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 5.11×10-14
abnormal pelvic girdle bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.69×10-10
decreased prepulse inhibition Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.17×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral 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 Dorso Ventral 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

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
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed skeletal maturation, De... ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Bone pain, Erlenmeyer flask deformity of the femurs, Splenomegaly, Thrombocyt... OMIM:610539
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla... OMIM:200700
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... ORPHA:750
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Otopalatodigital Syndrome Type 1
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... ORPHA:90650
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... OMIM:615631
Orofaciodigital Syndrome Type 10
Retrognathia, Fibular aplasia, Tarsal synostosis, Mesomelic arm shortening, Preaxial polydactyly,... ORPHA:2756
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Retrognathia, Camptodactyly, Micrognathia, Anisocytosis, Flexion contracture OMIM:604273
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Aarskog-Scott Syndrome
Talipes, Clinodactyly of the 5th finger, Delayed eruption of teeth, Genu recurvatum, Finger synda... ORPHA:915
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H... ORPHA:1106
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentra... OMIM:606612
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, 2-3 toe syndactyly, Thoracic kyphoscoliosis, Lumbar hyperlordosis... ORPHA:313892
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion OMIM:618845
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Micrognathia, Sh... ORPHA:2522
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Dominant Beta-Thalassemia
Genu valgum, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpu... ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Short neck, Abno... ORPHA:66637
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:2916
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Verheij Syndrome
Retrognathia, Scoliosis, Hemivertebrae, Short neck, Vertebral fusion, Joint hypermobility, Short ... OMIM:615583
Squalene Synthase Deficiency
Retrognathia, Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Increased circula... OMIM:618156
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Potocki-Lupski Syndrome
Scoliosis, Mandibular prognathia, Hypocholesterolemia, Micrognathia, Dental malocclusion OMIM:610883
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus, S... OMIM:272460
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s... ORPHA:950
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... OMIM:618469
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Pes cavus, Wrist swelling, Osteopenia, Carpal osteolysis, ... OMIM:166300
Atelosteogenesis Type Iii
Short tubular bones of the hand, Abnormal cervical curvature, Absent radius, Patellar dislocation... ORPHA:56305
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Per... ORPHA:763
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck... OMIM:244600
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Delayed skeletal maturation, Absent thumb, Aplasia/Hy... OMIM:612447
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Femoral bowing, Hypophosphatemia, Enamel hypomineralization, Metaphyseal irregular... OMIM:307800
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentra... OMIM:607155
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... ORPHA:1436
Kbg Syndrome
Finger clinodactyly, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed s... ORPHA:2332
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Micrognathia, Abnormal cervical curvature, Fl... OMIM:312150
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Delayed skeletal maturation, Hypoalbuminemia, Splenomegaly, Short neck, Hypocholesterol... OMIM:608776
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Ring Chromosome 21 Syndrome
Scoliosis, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clinodactyly, Small hand ORPHA:1445
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Mandibular prognathia, Scoliosis, Vertebral clefting, Hypoplasia ... ORPHA:1248
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Sac... OMIM:201000
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Low back pain, Short neck, Vertebral... OMIM:122600
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Micrognathia, Abnormal cervical curvature, Fl... OMIM:253290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... OMIM:616300
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Joint hypermobility, Cone-sh... ORPHA:439822
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Hammertoe, Cervical C2/C3 vertebral fusion, Hallux v... OMIM:618000
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Geroderma Osteodysplasticum
Kyphoscoliosis, Osteopenia, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext... OMIM:231070
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, ... OMIM:607143
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Delay... OMIM:608154
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... OMIM:151200
Greenberg Dysplasia
Retrognathia, Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multip... OMIM:215140
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Mandibular prognathia, Hypopl... OMIM:601216
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Cohen Syndrome
Genu valgum, Cubitus valgus, Short metatarsal, Tapered finger, Short metacarpal, Hypoplasia of th... OMIM:216550
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Short metacarpal, Dislocat... OMIM:150250
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short r... OMIM:215045
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp... OMIM:112350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Malar flattening, Hy... OMIM:266510
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Micrognathia, Flexion contracture, Acet... OMIM:616549
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of the maxilla... ORPHA:90653
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Brachydact... OMIM:258860
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, 2-3 toe syndactyly, Broad me... ORPHA:1540
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Scoliosis, Cuboidal metacarpal, Abnormal pelvi... ORPHA:968
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis ORPHA:2776
Cleidocranial Dysplasia
Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morpholog... ORPHA:1452
Alg12-Cdg
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... ORPHA:79324
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Delayed skeletal maturation... OMIM:170390
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Talipes calcane... OMIM:265000
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia ORPHA:530983
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral ... OMIM:222765
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Fused cervical vertebrae, Elevated circulating C-reactive protein concen... OMIM:612852
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... OMIM:613686
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed skeletal maturation, Decreased HDL cholesterol concentration, Decreased LDL cholesterol c... OMIM:616834
Congenital Erythropoietic Porphyria
Osteopenia, Erythrodontia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobi... ORPHA:79277
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Ge... OMIM:607634
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi... OMIM:101800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormality of the vertebral c... OMIM:123000
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Kniest Dysplasia
Tibial bowing, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped femur, Genu varum, ... OMIM:156550
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Arachnodac... ORPHA:96169
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Micrognathia, Malar flattening, S... OMIM:130720
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... ORPHA:3027
Mosaic Trisomy 20
Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,... ORPHA:198
Abetalipoproteinemia
Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Osteopenia, Decreased HDL cholester... ORPHA:14
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Plantar pits, Kyphoscoliosis, Vertebral wedging, Mandibular pr... OMIM:109400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... ORPHA:314795
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micrognathia, Neonatal death, Hypocholesterolemia OMIM:618810
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Taurodontia, Postaxial hand polydactyly, Talo... ORPHA:2751
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Rudimentary fibula, Finger... ORPHA:958
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... ORPHA:397973
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea... ORPHA:324964
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Hypoplasia of the m... ORPHA:2662
Myhre Syndrome
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, Ma... OMIM:139210
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Abetalipoprote... ORPHA:96180
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, ... OMIM:166250
Hypocalcemic Vitamin D-Dependent Rickets
Tibial bowing, Femoral bowing, Hypophosphatemia, Splenomegaly, Genu varum, Rickets, Hypocalcemia,... ORPHA:289157
Lujan-Fryns Syndrome
Scoliosis, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brac... ORPHA:776
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Abnormal vertebral segmentation and fusio... OMIM:118100
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Short palm, Clinodactyly, Camptodactyly of finger, Tapered finger, Tal... ORPHA:85279
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Grant Syndrome
Abnormal cortical bone morphology, Joint dislocation, Wormian bones, Abnormal pelvic girdle bone ... ORPHA:2097
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Deviation of finger, Malar flattening, Abnormality of the knee, Joint... ORPHA:2412
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h... ORPHA:959
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Hypoplasia of the maxilla,... ORPHA:93262
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Camptodactyly, Split hand, Microretrognathia OMIM:246560
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Craniosynostosis, Hyperextensibility of the finger jo... OMIM:213980
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Hyperlordosis, Synostos... ORPHA:710
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Paget disease of bone, Elevated circulating creatine kinase concentration, Abnormal pelvic girdle... OMIM:167320
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar deviation of ... ORPHA:1529
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:277440
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... OMIM:250250
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal... OMIM:209950
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Tibial bowing, Craniosynostosis, Renal hypophosphatemia, Genu varum, Ric... ORPHA:289176
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Short metacarpal, Osteopathia ... OMIM:212720
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Scoliosis, Accelerated skeletal ... OMIM:614753
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Femoral bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:264700
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Prominent fingertip pads, Kyphosis, Slender finger, ... OMIM:610443
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Mandibular prognathia, Scoliosis, Hemivertebrae... ORPHA:377
Osteogenesis Imperfecta, Type Iii
Slender long bone, Scoliosis, Tibial bowing, Kyphosis, Biconcave vertebral bodies, Multiple prena... OMIM:259420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo... OMIM:618278
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn... ORPHA:93160
Codas Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo... ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... OMIM:600081
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Retrognathia, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radi... OMIM:227270
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long foot, Mandibular prognathia, Scoliosis, Kyphosis, Hypoplasia of the maxilla OMIM:300676
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Retrognathia, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus... OMIM:206920
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... OMIM:184460
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thr... OMIM:212065
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor... OMIM:620306
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti... OMIM:600002
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Aarskog-Scott Syndrome
Radial deviation of finger, Hyperextensibility of the finger joints, Scoliosis, Short foot, Hypop... OMIM:305400
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Hypophosphatemia, Pathologic fracture, Osteolysis, Increased circulati... ORPHA:249
Frontonasal Dysplasia 1
Radial deviation of finger, Postaxial hand polydactyly, Camptodactyly, Hypoplastic frontal sinuse... OMIM:136760
Cohen Syndrome
Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Cubitus va... ORPHA:193
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Metatarsus adductus, Carious teeth, M... OMIM:244450
Shashi-Pena Syndrome
Retrognathia, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Osteoporosi... OMIM:617190
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... OMIM:164900
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Dubowitz Syndrome
Aplastic anemia, Sacral dimple, Clinodactyly of the 5th finger, Delayed eruption of teeth, Hypoch... OMIM:223370
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of th... ORPHA:245
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short neck, Absent thumb, Short thumb, Short ... OMIM:609053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Femoral bowing, Shor... OMIM:613091
Coffin-Lowry Syndrome
Broad finger, Advanced eruption of teeth, Abnormal diaphysis morphology, Craniofacial hyperostosi... ORPHA:192
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Tracheomalacia, Short ... OMIM:601390
Camurati-Engelmann Disease
Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Craniofacial osteos... ORPHA:1328
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Trism... OMIM:227330
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Delayed skeletal maturation, Flexion contracture of finger, Short di... OMIM:601812
Meier-Gorlin Syndrome 1
Absent sternal ossification, Short ribs, Delayed skeletal maturation, Joint hypermobility, Genu v... OMIM:224690
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Scoliosis, Wo... OMIM:252100
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... OMIM:101600
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, 2-3 toe syndactyly, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Tape... OMIM:218000
Seckel Syndrome 1
Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc... OMIM:210600
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... OMIM:157900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Short palm, Aplasia/Hypoplasia o... ORPHA:508498
Simpson-Golabi-Behmel Syndrome
Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Mandibular prognathia, Scoli... ORPHA:373
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Apert Syndrome
Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxial hand polydactyly, Ma... OMIM:101200
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia OMIM:601809
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio... OMIM:610915
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad thumb, Broad hallux phalanx, Malar flattening ORPHA:261295
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarp... OMIM:600920
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Van Maldergem Syndrome 2
Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Tracheomalacia, Short clavicles... OMIM:615546
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Hypoplasia of the maxilla, Malar flattening, Coxa valga, Hip... OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Increased laxity of ankles, Hypoplasia of the maxilla, Arachnodactyly, B... ORPHA:481152
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Hypoplasia of the maxilla, Micrognathia, Long fingers, Limb undergr... OMIM:608149
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Tibial bowing, Short metacarpal, J... OMIM:608940
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Craniofacial asymme... OMIM:194190
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Delayed eruption of teeth, 4-5 fin... OMIM:257850
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... ORPHA:140
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Platyspondyl... OMIM:613848
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat... OMIM:143095
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of... OMIM:148050
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... ORPHA:233
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Recon Progeroid Syndrome
Anemia, Proximal placement of thumb, Arachnodactyly, Thrombocytopenia, Joint hypermobility, Delay... OMIM:620370
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopenia, Genu valgum, Abnormal form of the verte... ORPHA:2462
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Splenomegaly, Overlapping toe, Hypocholesterolemia, Talipes calcaneo... OMIM:270400
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Fuse... OMIM:607323
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Aredyld Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu... ORPHA:1133
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal ph... OMIM:210720
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndactyly, Mandibular prognat... ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Hyponatremia, Micrognathia, Malar... OMIM:620157
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus... OMIM:119800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ... OMIM:263520
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the... ORPHA:3145
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hip subluxation, Osteopetrosis, Cranial hyperostosis, Anemia, Hypochromic microcytic ... OMIM:259720
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased mean corpuscular ... ORPHA:232
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Hypoplasia of the maxilla, Camptodac... ORPHA:178303
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Craniosynostosis, Dislocated radial head, Genu recurvatum, Scoliosis, C1... OMIM:182212
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Scoliosis, Decreased skull ossification, Hypoplasia of the maxilla, Ca... ORPHA:50814
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Kyphoscoliosis, Butterfly vertebrae, Hemiverteb... OMIM:200980
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr... ORPHA:352540
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Missing ribs, Block vertebrae, Short neck, Supernumerary ve... OMIM:271520
Antley-Bixler Syndrome
Talipes, Delayed cranial suture closure, Femoral bowing, Joint stiffness, Camptodactyly of finger... ORPHA:83
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Scoliosis, Hemivertebrae, Marked delay i... ORPHA:97360
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Wormian bones, Tibial bowing, Abnormal pelv... OMIM:166210
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Kyphosis, Accelera... OMIM:602535
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, 2-3 toe syndactyly, Scoliosis, Persiste... ORPHA:37553
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Missing ribs, Block vertebrae, Hip dysplasia, Prominence of the p... ORPHA:50
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Limited elbow movement, Limitation of knee mobility, Abnormal hand morphology, Arac... ORPHA:319171
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Hyperbilirubinemia, Elevated circulating long chain fatty acid... OMIM:614886
Prolidase Deficiency
Genu valgum, Reduced bone mineral density, Abnormal hip bone morphology, Carious teeth, Micrognat... ORPHA:742
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus OMIM:618302
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Abnormality of the verte... OMIM:265050
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi... ORPHA:2307
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone... OMIM:617159
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finge... ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cubitus valgus, Talipes calcaneovarus, Mandibular prognathia, Hypoplasia of the maxilla, Microgna... OMIM:300534
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, Widely patent coronal suture, Talon cusp, Osteoporosis, Hypoplasia of t... ORPHA:2409
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac... OMIM:114290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Hyposegmentation of neutrophil nuclei, Delayed skeletal maturation, Broad... OMIM:614800
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphys... ORPHA:1667
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Postaxial polydactyly OMIM:619142
Hajdu-Cheney Syndrome
Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Splen... ORPHA:955
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono... ORPHA:86843
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p... ORPHA:231222
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Meier-Gorlin Syndrome 5
Slender long bone, Prominent metopic ridge, Hypoplasia of the maxilla, Delayed skeletal maturatio... OMIM:613805
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... OMIM:211350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Abnormal metacarpal morphology, Joint stiffness, Brachydactyly, Short distal phalanx... ORPHA:1295
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Carious teeth, Short pal... ORPHA:1786
Holt-Oram Syndrome
Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Aplasia of the 1st metacarpal, 1-2 ... OMIM:142900
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Absent sternal ossification, Slender long bone, Aplasia... OMIM:613803
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ... ORPHA:1834
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ... ORPHA:3144
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Kyphosis,... ORPHA:828
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Hypoplasia of the ma... OMIM:277600
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Block v... OMIM:304050
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Metatarsus adductus, Clinodactyly, Neonatal hyperbilirubinemia ORPHA:293939
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Coronal craniosynostosis OMIM:241310
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis OMIM:617796
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Mandibular prognathia, ... ORPHA:2588
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Cubitus valgus, Mandibular prognathia, Joint hypermobility, Hypoplasia of the zygoma... ORPHA:1778
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Severe Oculo-Renal-Cerebellar Syndrome
Sandal gap, Mandibular prognathia, Scoliosis, Joint hypermobility, Hypoplasia of the zygomatic bo... ORPHA:2715
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal pel... ORPHA:3079
Sclerosteosis 1
Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically de... OMIM:269500
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal hip bone morphology, Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic b... ORPHA:1110
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,... OMIM:617137
Tangier Disease
Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Clinodactyly, Brachydactyly OMIM:614261
Meier-Gorlin Syndrome 4
Slender long bone, Genu recurvatum, Hypoplasia of the maxilla, Delayed skeletal maturation, Micro... OMIM:613804
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Harrod Syndrome
Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn... ORPHA:2115
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Tracheomalacia, Camptodactyly, Hypoplasia of the maxilla, Micrognat... ORPHA:314679
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Cervical C2/C3 vertebral fusion, F... ORPHA:268882
Marshall Syndrome
Genu valgum, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathia, Malar flatteni... ORPHA:560
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar... OMIM:600383
Dyskeratosis Congenita
Anemia, Avascular necrosis, Scoliosis, Osteoporosis, Hypoplasia of the maxilla, Carious teeth, Co... ORPHA:1775
Crouzon Syndrome
Lambdoidal craniosynostosis, Mandibular prognathia, Hypoplasia of the maxilla, Coronal craniosyno... OMIM:123500
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Frontorhiny
Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of finger, Brach... ORPHA:391474
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus OMIM:616367
Cowden Syndrome 1
Scoliosis, Lymphopenia, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkera... OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia,... OMIM:309520
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of hallux, Pes cavus, Sacral dimple, Proximal placement of... OMIM:613458
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Orofaciodigital Syndrome X
Retrognathia, Fibular aplasia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Preaxial hand polydactyly ORPHA:79113
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Vertebral fusion OMIM:206900
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Hypoplastic iliac wing, Oligoda... OMIM:263650
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Coronal cran... ORPHA:2095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Fused cervical vertebrae, B lymphocytopenia, Cleft vertebral arch, Coronal craniosy... ORPHA:83617
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger OMIM:167730
Nablus Mask-Like Facial Syndrome
Retrognathia, Sandal gap, Short hallux, Tapered finger, Camptodactyly, Hypoplasia of the maxilla,... OMIM:608156
Hydrolethalus Syndrome 1
Stillbirth, Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of ... OMIM:236680
7Q31 Microdeletion Syndrome
Clinodactyly of the 2nd finger, Scoliosis, Prominent fingertip pads, Hypoplasia of the maxilla, D... ORPHA:251061
Elsahy-Waters Syndrome
Supernumerary tooth, Agenesis of incisor, Cervical C2/C3 vertebral fusion, Delayed eruption of te... OMIM:211380
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Singleton-Merten Syndrome 1
Osteopenia, Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals wit... OMIM:182250
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Carious teeth, Micrognathia,... ORPHA:3253
Ear-Patella-Short Stature Syndrome
Retrognathia, Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Mandibular apl... ORPHA:2554
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia ORPHA:228396
Cowden Syndrome 5
Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis OMIM:615108
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron def... OMIM:301074
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o... ORPHA:199306
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Thoracolumbar kyphosis, Flexion contracture of toe, Clinodac... OMIM:300373
Cowden Syndrome 6
Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis OMIM:615109
Flat Face-Microstomia-Ear Anomaly Syndrome
Scoliosis, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:1968
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone, Clinodactyly of the 5th finger ORPHA:3074
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Bilateral talipes equinovarus, Congenital hip dislocation, Asplenia, Block verte... OMIM:306955
Chops Syndrome
Splenomegaly, Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia OMIM:616368
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... ORPHA:1422
Treacher-Collins Syndrome
Retrognathia, Abnormality of the vertebral column, Abnormal dental enamel morphology, Abnormality... ORPHA:861
Primrose Syndrome
Pes cavus, Genu valgum, Reduced bone mineral density, Joint hypermobility, Increased size of the ... OMIM:259050
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis OMIM:105830
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short foot, Fusion of middle ear ossicles... OMIM:157800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi... ORPHA:444077
Treacher Collins Syndrome 3
Micrognathia, Hypoplasia of the zygomatic bone, Malar flattening OMIM:248390
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Mandibular pr... OMIM:619297
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormal dentin morphology, Upper limb peromelia, Amelia involving the low... ORPHA:1299
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... OMIM:101400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Arthritis, Neutropenia in presence of anti-neutropil ... ORPHA:3261
Goldberg-Shprintzen Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Increased femoral anteversion, Short n... OMIM:609460
Ellis Van Creveld Syndrome