Gene Summary

Name:
leucine-rich repeat kinase 1
Synonyms:
D130026O16Rik,  C230002E15Rik

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
abnormal clavicle morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-14
abnormal locomotor behavior Lrrk1tm1b(KOMP)Wtsi HOM Early adult 5.04×10-07
abnormal tibia morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-14
abnormal humerus morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.69×10-14
decreased lean body mass Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.03×10-05
abnormal rib morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.54×10-13
increased circulating iron level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.20×10-06
decreased leukocyte cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.56×10-05
abnormal mandible morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.75×10-14
increased neutrophil cell number Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 6.79×10-23
abnormal tooth morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.03×10-15
abnormal femur morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.53×10-14
abnormal snout morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.19×10-07
increased circulating creatine kinase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 7.62×10-12
abnormal eyelid morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.23×10-31
short tibia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.25×10-24
abnormal fibula morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-14
decreased lymphocyte cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.80×10-15
decreased eosinophil cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.74×10-07
increased circulating HDL cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.17×10-06
abnormal ulna morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.47×10-07
increased bone mineral content Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.19×10-15
abnormal vertebrae morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.29×10-05
increased circulating phosphate level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.38×10-05
increased circulating cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.71×10-06
abnormal pelvic girdle bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.99×10-06
increased circulating aspartate transaminase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.80×10-13
thrombocytopenia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.69×10-17
abnormal radius morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.48×10-08
abnormal gait Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.09×10-08
increased total body fat amount Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05
decreased circulating alkaline phosphatase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.44×10-06
increased bone mineral density Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal zygomatic bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.46×10-12
abnormal maxilla morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.27×10-11
absent teeth Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.27×10-10
abnormal joint morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.10×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Lrrk1 mutations

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

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

The table below shows human diseases associated to Lrrk1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands OMIM:615198

The table below shows human diseases predicted to be associated to Lrrk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p... ORPHA:566943
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands OMIM:615198
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Tall stature, Curved distal phalanges of the hand, ... ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Lower limb asymmetry, Flexion contracture OMIM:166700
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Bone marrow... OMIM:166600
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Tibial Hemimelia
Absent tibia OMIM:275220
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Elevated circulating creat... OMIM:620366
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Thick eyebrow, Epicanthus, Rad... ORPHA:3268
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ... OMIM:132400
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga OMIM:613618
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ... OMIM:127300
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, ... OMIM:259700
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypopho... OMIM:307800
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Abnormal epiphysis morphology, Reduced bone mineral density, Bowi... ORPHA:2501
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Epicanthus, H... OMIM:277440
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Delayed eruption of teeth, Short toe, Short finger, Hypocalcemic tetany, Obesi... OMIM:103580
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Reduced bone mineral density, Ge... OMIM:617974
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Malar flattening, Elevated circulating creatine kinase c... OMIM:614727
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increased bone density with cy... ORPHA:94089
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Epicanthus, Calvarial h... OMIM:101800
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Obesity, Hypocalcemia, Short n... OMIM:612462
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis, Short stature, Clinodactyly of the 5th finger, Increased bone minera... OMIM:617306
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel... ORPHA:53
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, B... OMIM:264700
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Abnormal blood phosphate concentration, Intrauterine growth retardation, Bowin... OMIM:619795
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Abnormal adipose tissue morphology, Coarse metaphyseal trabeculariz... ORPHA:93160
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Kyphosis, Recurrent fractures, Short humerus, L... OMIM:239000
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora... OMIM:600081
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Mildly elevated creat... OMIM:600969
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Short stature, Diaphy... OMIM:122860
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph... ORPHA:289157
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme... ORPHA:3269
Melorheostosis
Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr... ORPHA:2485
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abno... ORPHA:950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Epicanthus, Short neck, Abnormal bone ossification, Flattened epiphysis, High palat... ORPHA:163649
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Short stature, Growth delay OMIM:618541
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis,... ORPHA:2780
Pyle Disease
Absent paranasal sinuses, Genu valgum, Limited elbow extension, Metaphyseal widening, Metaphyseal... OMIM:265900
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... ORPHA:71289
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Osteopetrosis, Sh... OMIM:259730
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th... OMIM:231095
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,... OMIM:184255
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs OMIM:146350
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femo... OMIM:614856
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Micro... ORPHA:2635
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia OMIM:615612
Body Mass Index Quantitative Trait Locus 20
Tall stature, Increased bone mineral density OMIM:618406
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Abno... ORPHA:94068
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Pes cavus, Decreased mean corpuscular volume... OMIM:616943
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, H... ORPHA:89936
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Abnormal c... OMIM:241530
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormality of the spheno... ORPHA:249
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Hep... ORPHA:763
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum, Micrognathia, H... OMIM:241410
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... OMIM:618476
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Microg... OMIM:259720
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Sanjad-Sakati Syndrome
Abnormality of the dentition, Patchy osteosclerosis, Small hand, Hyperphosphatemia, Long philtrum... ORPHA:2323
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo... ORPHA:1837
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Hypocalcemic tetany, Persistenc... ORPHA:93325
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G... ORPHA:800
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss... OMIM:215045
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Sh... ORPHA:1782
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ... ORPHA:2097
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr... ORPHA:93307
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Sparse la... OMIM:190351
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, High ... ORPHA:254531
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Brachydactyly, Short stature, Reduced bone mineral density, Delayed ossificat... OMIM:618392
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Spreng... ORPHA:1988
Short Stature, Dauber-Argente Type
Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Increased insulin like grow... OMIM:619489
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha... OMIM:615923
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... ORPHA:1798
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Neutropenia,... ORPHA:2909
Dominant Beta-Thalassemia
Abnormality of the dentition, Abnormality of iron homeostasis, Reduced hemoglobin A, Hyperplasia ... ORPHA:231226
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu... ORPHA:1328
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joi... ORPHA:2619
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Hypophosphatasia, Childhood
Carious teeth, Rachitic rosary, Elevated plasma pyrophosphate, Premature loss of primary teeth, C... OMIM:241510
Temple Syndrome
Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Overweight, Hypertriglyceridemia, J... OMIM:616222
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone o... OMIM:608154
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia, Brachydactyly, Short metacarpal OMIM:603233
Monosomy 5P
Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Recurrent frac... ORPHA:281
Acrootoocular Syndrome
Micrognathia, Anodontia, Epicanthus, Blepharophimosis, Small thenar eminence, Short foot, Short m... ORPHA:2980
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... OMIM:619073
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia,... OMIM:193100
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Dec... OMIM:613848
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat... ORPHA:37748
Laron Syndrome
Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterol... ORPHA:633
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro... OMIM:616897
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micr... OMIM:201170
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Osteopenia, Kyphosis, Downslanted palpebral fissures, Micrognathia, Open mouth... ORPHA:2479
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... OMIM:619638
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Shor... OMIM:620639
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Osteopenia, Metaphyseal cupping, Clubbing of fingers, Pathologic fracture, Mic... OMIM:156400
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Sparse eyebrow, Cone-shaped epiphysis, Short distal phalanx of fing... ORPHA:77258
Desmosterolosis
Severe short stature, Micromelia, Intrauterine growth retardation, Micrognathia, Splenomegaly, Ta... ORPHA:35107
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Moderately short stature, Abnormal metaphysis morphology, Flat ca... ORPHA:157965
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Pectus carinatum, Joint... ORPHA:582
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Slender build, Intrauterine growth retardation, Slender long... ORPHA:50811
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... ORPHA:79445
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Atelosteogenesis Type I
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Neonatal short-trunk sho... ORPHA:1190
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Bow... ORPHA:89937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista... ORPHA:99642
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Cohen Syndrome
Micrognathia, Open mouth, Genu valgum, Narrow palm, Pes planus, Neutropenia, Short metacarpal, Hi... OMIM:216550
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Failure to thrive, Micrognathia, Anisocytosis, Camptodactyly, Flexion contracture, ... OMIM:604273
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Reduced bone mineral den... ORPHA:2370
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Pes planus, High palate, Gingival fibromatosis, Anterior open-bite malo... ORPHA:3473
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Denta... ORPHA:2457
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Epicanthus, Short neck, Pes planus, Everted l... ORPHA:915
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Abnormality of the dentition, Joint dislocation, Long philtrum, Avascular necr... ORPHA:502
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial... ORPHA:2658
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, In... OMIM:620076
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Pes planus, Short no... ORPHA:819
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Ra... OMIM:108721
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Unilateral cleft lip, Sparse lateral eyebrow, Finger syndactyly,... ORPHA:1787
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downtu... ORPHA:93267
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... OMIM:300831
Opsismodysplasia
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypophosphatemia, Anterior ri... OMIM:258480
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s... OMIM:248370
Hypophosphatasia
Abnormality of the dentition, Narrow chest, Failure to thrive in infancy, Hypercalcemia, Bowing o... ORPHA:436
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav... OMIM:620099
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the dentition, Abnormal forearm morphology, Scoliosis, Everted ... OMIM:182290
Orofaciodigital Syndrome Viii
Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Sparse eyebrow, Cleft lip, Ha... OMIM:616300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Path... ORPHA:157215
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Pycnodysostosis
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence... OMIM:265800
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration, Short stature, Growth delay, Bowing of th... OMIM:615605
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal e... ORPHA:85198
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micro... OMIM:251230
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Clinodactyly, Obesity, Micrognathia, Narrow mouth, Joint hypermobility, ... ORPHA:96184
Orofaciodigital Syndrome Iv
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, M... OMIM:258860
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Increased upper to lower segm... OMIM:271530
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red... ORPHA:1508
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Butterfly vertebrae, Hypocalcemia, Short ... OMIM:607143
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Talipes equin... OMIM:611209
Tetrasomy X
Abnormality of the dentition, Upslanted palpebral fissure, Joint hypermobility, Radioulnar synost... ORPHA:9
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ... OMIM:244460
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... ORPHA:2633
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Downturned corners of mouth, Downslanted palpebral fissures, Ename... ORPHA:2643
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Inabili... OMIM:166300
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Autosomal Recessive Primary Microcephaly
Short stature, Abnormal cortical bone morphology, Growth delay ORPHA:2512
Camurati-Engelmann Disease
Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Reduced... OMIM:131300
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m... ORPHA:85435
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud... OMIM:259775
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Epi... OMIM:609945
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... OMIM:252100
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... ORPHA:221016
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Hypocalcemic tetany, Hypoca... ORPHA:93324
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Osteopenia, Sandal gap, Failure to thrive, Absent neutrophil sp... OMIM:617475
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Downturned corners of mouth, Retrognathia, Lymphopenia, Long eyelashes, Leukop... OMIM:301110
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... OMIM:268305
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Cervical kyphosis, Short clavicles, Short neck, Hypercholester... ORPHA:401923
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Epicanthus, Short neck, Neutropenia, Abnormal bone ossifica... ORPHA:175
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Growth delay, Abnormal metaphysis morphology, Hypocalcemia, Spleno... ORPHA:667
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ... ORPHA:56304
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Neuhauser Syndrome
Wide nasal bridge, Bifid uvula, Osteopenia, Genu recurvatum, Long philtrum, Downslanted palpebral... OMIM:249310
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin... ORPHA:2484
Cohen Syndrome
Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Narrow palm, Arachnodactyly, Neutropeni... ORPHA:193
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Recurrent fract... OMIM:615066
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Abnormal number of incisors, Finger clinodactyly, Inguinal hernia, Supernumerary ri... ORPHA:2958
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, Anodontia, Epicanthus, Euryblephar... ORPHA:3107
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Downslanted palpebral fissures, Obesity, Abnormal morphology of ulna, Short neck, Abnormal metaca... ORPHA:2233
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... OMIM:211350
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Craniodiaphyseal Dysplasia
Wide nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Failure to thr... ORPHA:337
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Achill... OMIM:617994
Pde4D Haploinsufficiency Syndrome
Micrognathia, Broad foot, Pes planus, Narrow palpebral fissure, Bilateral coxa valga, Broad phala... ORPHA:439822
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Lower limb asymmetry, Failure to thrive, Camptodactyly of finger... ORPHA:1703
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Epicanthus, Short nec... ORPHA:251014
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Hypochondroplasia
Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Limited elbow extensi... OMIM:146000
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Blepharophimosis, High palate, Short foot, Short metaca... OMIM:170390
Senior-Loken Syndrome
Short stature, Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Upslanted palpebral fissure, Tibial bowing, Bowing of ... ORPHA:3035
Linear Verrucous Nevus Syndrome
Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Reduced bone mineral densi... ORPHA:2611
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Abnormal ... ORPHA:1426
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... OMIM:201000
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Short neck, Neutropenia, Clubbing, Pectus carinatum, Inability to walk, Long eyelashe... OMIM:617303
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal dental morphology, Malar... ORPHA:2522
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ... ORPHA:239
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Galloway-Mowat Syndrome 7
Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa... OMIM:618348
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ... OMIM:619752
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thr... OMIM:222765
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Oncogenic Osteomalacia
Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ... ORPHA:352540
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Ataxia, B... OMIM:253010
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist... ORPHA:1248
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... ORPHA:83468
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e... OMIM:608728
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Conjunctival... OMIM:211900
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Calcinosis, Leukemia, Short metaca... ORPHA:221008
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala... OMIM:612350
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Abnormality of the ankle, Aplasia/Hyp... ORPHA:1307
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finge... ORPHA:2631
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi... OMIM:100800
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... ORPHA:2769
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, Subperios... OMIM:618188
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Thrombocytopenia ORPHA:1237
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Multiple Epiphyseal Dysplasia, Al-Gazali Type