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
decreased lean body mass Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.87×10-06
abnormal rib morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.57×10-13
short tibia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.67×10-20
abnormal gait Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.35×10-08
abnormal tooth morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.99×10-15
decreased lymphocyte cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.80×10-15
abnormal eyelid morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.26×10-30
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
decreased eosinophil cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.74×10-07
abnormal vertebrae morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.38×10-05
abnormal fibula morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.62×10-14
abnormal humerus morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.86×10-14
abnormal mandible morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.93×10-14
abnormal snout morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.04×10-06
increased circulating creatine kinase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 7.62×10-12
increased circulating phosphate level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.60×10-05
abnormal femur morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.58×10-14
abnormal clavicle morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.61×10-14
increased bone mineral content Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
absent teeth Lrrk1tm1b(KOMP)Wtsi HOM Early adult 7.09×10-10
increased neutrophil cell number Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 6.78×10-23
abnormal pelvic girdle bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.14×10-06
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
thrombocytopenia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.70×10-17
increased circulating HDL cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.17×10-06
increased red blood cell distribution width Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.19×10-15
abnormal radius morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.57×10-08
increased circulating cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.71×10-06
abnormal zygomatic bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.47×10-12
increased circulating aspartate transaminase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.80×10-13
abnormal maxilla morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 7.27×10-12
abnormal joint morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.12×10-05
abnormal tibia morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.61×10-14
abnormal ulna morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.57×10-07
abnormal locomotor behavior Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.57×10-07
increased total body fat amount Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 3.59×10-05

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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  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Aorta 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 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)
Liver N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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.

Echo

M-Mode Images

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

23 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
Clavicular sclerosis, Metaphyseal dysplasia 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
Short femur, Hypoplastic pelvis OMIM:619545
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limita... OMIM:619598
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Short stature, Narrow pe... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... ORPHA:564003
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... OMIM:601376
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteoscleros... OMIM:607634
Sclerosteosis
Diaphyseal thickening, Tall stature, Abnormal cortical bone morphology, Finger syndactyly, Curved... ORPHA:3152
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia OMIM:218300
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... OMIM:166600
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... ORPHA:166119
Tibial Hemimelia
Absent tibia OMIM:275220
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Dysplastic Cortical Hyperostosis
Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morp... ORPHA:2204
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Short stature, Delayed epiphyseal ossifica... OMIM:182255
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Abnormality of the epip... ORPHA:2114
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis, Abnormality of the metaphysis ORPHA:1522
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Pycnodysostosis
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Hypodontia, Abno... OMIM:265800
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Elevated circulating creatin... OMIM:600969
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... OMIM:259700
Osteopetrosis, Autosomal Recessive 2
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Genu valgum, Hepato... OMIM:259710
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ... ORPHA:1509
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Mild short stature, Avascular necrosis ... OMIM:132400
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... ORPHA:94089
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Limited wrist movement, Fibular hyp... OMIM:127300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia, Coxa valga OMIM:613618
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Failure to thrive, Kyp... OMIM:614727
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Synophrys, Epicanthus, F... ORPHA:3268
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Pathologic fracture, Sh... ORPHA:166277
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Ena... OMIM:103580
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... ORPHA:75508
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia... OMIM:612462
Albers-Schönberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Joint dislocation... ORPHA:53
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Enlargement of the wrists, Rickets, Metaphyseal irregularity, Hypophosphat... OMIM:264700
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Growth delay, Short stature, Osteopetrosis, Anemia, Hyperbilirubinemia, Decreased o... OMIM:259720
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Growth delay, Rickets, Bowing of the legs, Metap... OMIM:600081
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Calvarial hyperos... OMIM:101800
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Hypocalcemic seizures, Enlargement of the wrists, Rickets, Metaphyseal irregularit... OMIM:277440
Osteopetrosis, Autosomal Recessive 4
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Melorheostosis
Ectopic ossification in muscle tissue, Lower limb asymmetry, Hyperostosis, Arthritis, Increased b... ORPHA:2485
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial ... OMIM:122860
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypocalcemic Vitamin D-Resistant Rickets
Premature loss of primary teeth, Bone cyst, Genu varum, Gait disturbance, Abnormal form of the ve... ORPHA:93160
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni... OMIM:601559
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Campt... OMIM:264010
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Dispro... OMIM:271530
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Generalized joint laxity, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral ne... OMIM:609325
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Premature loss of teeth, Hydroxyprolinemia, Bowing of the long bones, Osteoporosis, Ky... OMIM:239000
Diastrophic Dysplasia
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral b... ORPHA:628
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:612301
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... OMIM:300554
Temple Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Small for gestational age, Small hand, B... OMIM:616222
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Hip contracture, Pierre-Robin sequence, Short thorax, Pes planus, Sh... OMIM:618363
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Talipes, Ulnar deviation of finger, Overlapping fingers, Camp... ORPHA:1146
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, Osteopetrosis, Abnormality of the metaphysis, Coarse metaphyseal trabecularization,... ORPHA:2780
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly, Increase... ORPHA:163649
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Hypocalcemia OMIM:618476
Hypophosphatemic Bone Disease
Short stature, Bowing of the legs, Rickets, Hypophosphatemia, Osteomalacia OMIM:146350
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... ORPHA:2635
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... ORPHA:93314
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Developmental Dysplasia Of The Hip 2
Coxa valga, Arthritis, Hip dysplasia, Hip osteoarthritis OMIM:615612
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Short stature, Rhizomelia, Epiphyseal dyspla... ORPHA:166016
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemic seizures, Long philtrum, Patchy osteosclerosis, Small hand, Thin vermi... OMIM:241410
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Hypocalcemic seizures, Enlargement of the wrists, Rickets, Hypophosphatemia, Delayed ... ORPHA:289157
Osteopetrosis, Autosomal Recessive 3
Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... OMIM:259730
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Joint laxity, Metaphyseal ... OMIM:250460
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
X-Linked Hypophosphatemia
Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... ORPHA:89936
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... ORPHA:94068
Cranio-Osteoarthropathy
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... ORPHA:1525
Sanjad-Sakati Syndrome
Micrognathia, Spinal canal stenosis, Long philtrum, Patchy osteosclerosis, Small hand, Abnormal d... ORPHA:2323
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Tall stature OMIM:618406
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralizati... OMIM:307800
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... OMIM:190351
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Rickets, Fibrous dysplasia of the bones, Increased circulating cortisol ... ORPHA:249
Pseudohypoparathyroidism Type 1C
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Increas... ORPHA:79444
Familial Expansile Osteolysis
Thin bony cortex, Bowing of the long bones, Osteolysis, Pathologic fracture OMIM:174810
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Short stature, Abnormality of epiphysis morphology, Generalized oste... ORPHA:1306
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Tibial bowing, Lower limb asymmetry, Short stature, Growth delay, Abnormality of the ... ORPHA:289176
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... ORPHA:99642
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the wrists, Rickets, Metaphyseal irregularity, Hypophosphatemia, Femoral bowing, H... OMIM:241530
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Dela... ORPHA:763
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... ORPHA:85184
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Long eyelashes in irregular rows, Cleft palate, Hip contracture, Talipes eq... ORPHA:800
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteogenesis Imperfecta, Type Xiii
Short stature, Osteoporosis, Dislocated radial head, Arachnodactyly, Joint hypermobility, Increas... OMIM:614856
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Abnormal platelet function, Hypocalcemic seizures, Short metatarsal, Delaye... ORPHA:79443
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Short stature, Bowing of the long bones, Abnormal... ORPHA:2097
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:93325
Dysosteosclerosis
Short stature, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Craniofacial ... ORPHA:1782
Rothmund-Thomson Syndrome
Carious teeth, Sparse eyelashes, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnorma... ORPHA:2909
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the ulna, Hand oligodactyly, Cleft palate, Abnormal form of the vert... ORPHA:3104
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... OMIM:166260
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Femoral-Facial Syndrome
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Abnormality of pelvic gi... ORPHA:1988
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, High palate, Short philtrum, Small hand, Joint hypermobility, Hypercholesterolemia,... ORPHA:254531
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Prominent calcaneus, Telecanthus, Short toe, Radial deviation of the han... ORPHA:2756
Aarskog-Scott Syndrome
Cleft palate, Pes planus, Genu recurvatum, Delayed eruption of teeth, Finger syndactyly, Camptoda... ORPHA:915
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... OMIM:146000
Wt Limb-Blood Syndrome
Micrognathia, Hypoplastic anemia, Ulnar deviation of thumb, Leukemia, Clinodactyly of the 5th fin... OMIM:194350
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Multiple sm... OMIM:156510
Dysosteosclerosis
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Absent fronta... OMIM:224300
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... OMIM:265900
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Smith-Magenis Syndrome
Broad palm, Everted upper lip vermilion, Mandibular prognathia, Synophrys, Velopharyngeal insuffi... OMIM:182290
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... OMIM:602111
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Ups... ORPHA:231226
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absen... OMIM:251230
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Pectus excavatum, Failure to thrive, Kyphoscoliosis, Supernumerary too... OMIM:264475
Hypophosphatasia, Childhood
Carious teeth, Bowing of the legs, Craniosynostosis, Elevated plasma pyrophosphate, Waddling gait... OMIM:241510
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... OMIM:300009
Slc35A2-Cdg
Metatarsus adductus, Limb joint contracture, Increased circulating thyroglobulin level, Intrauter... ORPHA:356961
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... OMIM:609052
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... ORPHA:1798
Epiphyseal Chondrodysplasia, Miura Type
Tall stature, Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger... OMIM:615923
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask de... OMIM:610539
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hypocalcemia, Obesity, Hyperphosphatemia, Brachydactyly OMIM:603233
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Laron Syndrome
Micrognathia, Microdontia, Abnormality of the elbow, Delayed eruption of teeth, Truncal obesity, ... ORPHA:633
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Short philtrum, Talipes equinovarus, Small for gestational age, Failure to t... OMIM:607143
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Small for gestational age, Failure to thrive, Cubitus valgus, Slender build, Disharm... OMIM:608154
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Gait distur... ORPHA:93351
Megalocornea-Intellectual Disability Syndrome
Micrognathia, Genu varum, High palate, Short philtrum, Tapered finger, Epicanthus, Downslanted pa... ORPHA:2479
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Short stature, Abnormal cortical bone morphology, Slender long bone, Limitation of ... ORPHA:1486
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Micrognathia, Epicanthus, Downslanted ... ORPHA:2980
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Hypophosphatemia, Osteopenia, Hypocalcemia, Flared metaphysis, Me... OMIM:619073
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... OMIM:201170
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Rickets, Abnormality of the lower limb, Hypophosphatemia, Osteomalacia, Hypophosph... OMIM:193100
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Micrognathia, Metaphyseal cupping, Hip contracture, Bowing of the long bones, Toot... OMIM:156400
Cleidocranial Dysplasia
Cleft palate, Abnormal facility in opposing the shoulders, Malar flattening, Aplastic clavicle, A... OMIM:119600
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iig
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Talipes equinovarus, Thin upper lip vermili... OMIM:611209
Monosomy 5P
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Small hand, ... ORPHA:281
Cohen Syndrome
Neutropenia, Short metatarsal, Cubitus valgus, Pes planus, Thoracic scoliosis, Hypoplasia of the ... OMIM:216550
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Long philtrum, Hypoplastic vertebral bodies, Rhizomeli... OMIM:258480
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Trisomy 4P
Carious teeth, Abnormal palate morphology, Smooth philtrum, Radial club hand, Abnormality of the ... ORPHA:1738
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... ORPHA:77258
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Short stature, Slender build, Osteopenia, Slender long bones wit... ORPHA:50811
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Intrauterine growth retardation, Short stature, Short metatarsal, Short 5th... ORPHA:79445
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Talipes, Long philtrum, Avascular necrosis of the capital femoral epi... ORPHA:502
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Abnormality of the metaphysis, Osteopenia, Modera... ORPHA:157965
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Abnormality of the lower limb, Bowi... ORPHA:1040
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia... ORPHA:89937
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... OMIM:619489
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... OMIM:619638
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Short thorax, Reduced bone mineral density, Gai... ORPHA:582
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter, Limb u... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Micrognathia, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Bowin... ORPHA:93267
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... OMIM:300106
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... ORPHA:85435
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Abnormality of the metaphysis, Reduced bone miner... ORPHA:2370
Greenberg Dysplasia
Omphalocele, Epiphyseal stippling, Malar flattening, Abnormal bone structure, Supernumerary verte... OMIM:215140
Desmosterolosis
Metatarsus adductus, Micrognathia, Intrauterine growth retardation, Growth delay, Talipes, Osteop... ORPHA:35107
Megalocornea-Mental Retardation Syndrome
Micrognathia, High palate, Long philtrum, Pes valgus, Epicanthus, Arachnodactyly, Genu recurvatum... OMIM:249310
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Talipes equinovarus, Neonatal short-... ORPHA:1190
Zimmermann-Laband Syndrome
Hallux valgus, Cleft palate, Telecanthus, Pes planus, Splenomegaly, Anterior open-bite malocclusi... ORPHA:3473
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Achilles tendon calcification, Calvarial osteosclerosis, Osteopenia, Metacarpal pe... OMIM:617994
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Mandibuloacral Dysplasia
Micrognathia, Short clavicles, High palate, Loss of subcutaneous adipose tissue in limbs, Reduced... ORPHA:2457
Lichtenstein Syndrome
Carious teeth, C1-C2 subluxation, Pectus excavatum, Neutropenia, Ulnar deviation of finger, Synop... OMIM:246550
Andersen Cardiodysrhythmic Periodic Paralysis
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Short... OMIM:170390
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Micrognathia, Sparse eyelashes, Thin eyebrow, Oligodontia, Sparse lateral ey... ORPHA:1787
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Osteolytic defects of the middle p... OMIM:259610
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... ORPHA:93333
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Syno... ORPHA:1106
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Hypoplasia of the nasal bone, Cone-shaped epiphysis, Mandibular prognathia... ORPHA:280651
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Small for gestational age, Delayed closure... OMIM:127000
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Symphalangism affecting the phalanges of the hand, Aplastic clavi... ORPHA:2658
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Polydactyly, Telecanthus, Syndactyly, Median cleft lip, Short tibia OMIM:300484
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... ORPHA:436
Atelosteogenesis, Type Iii
Cervical segmentation defect, Knee dislocation, Micrognathia, Tibial bowing, Radial bowing, Talip... OMIM:108721
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... ORPHA:1263
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Short stature, Bowing of the legs, Hypophosphatemia, Reduced bone mineral density, ... ORPHA:157215
Fanconi Renotubular Syndrome 3
Growth delay, Bowing of the legs, Short stature, Rickets OMIM:615605
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... ORPHA:96334
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Ck Syndrome
Micrognathia, Slender build, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... OMIM:300831
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Otopalatodigital Syndrome Type 2
Omphalocele, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Incr... ORPHA:90652
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Mic... OMIM:210720
Smith-Magenis Syndrome
Cleft palate, Abnormal form of the vertebral bodies, Short nose, Pes planus, Hand polydactyly, To... ORPHA:819
Omodysplasia 1
Limited elbow flexion, Short nose, Malar flattening, Increased fibular diameter, Limited elbow ex... OMIM:258315
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Undulate clavicles, Short metatarsal, Ma... OMIM:304120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Cleft palate, High palate, Short philtrum, Small for gestational age, Small hand, B... ORPHA:96184
Raine Syndrome
Cleft palate, Short nose, Malar flattening, Hypophosphatemia, Long hallux, Increased bone mineral... OMIM:259775
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shield chest, Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviati... OMIM:143095
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Talipes equinovarus, Long upper lip, Limited elbow extension, Elbow flexion contrac... ORPHA:93359
Coxoauricular Syndrome
Abnormality of femur morphology, Short stature, Reduced bone mineral density, Hip dislocation, Ab... ORPHA:1508
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cleft palate, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... ORPHA:3320
Acrodysostosis
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Abnormal form of the vertebral b... ORPHA:950
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Cubitus valgus, Telecanthus, Joi... OMIM:311450
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Kenny-Caffey Syndrome, Type 1
Carious teeth, Long clavicles, Thin clavicles, Thin ribs, Delayed closure of the anterior fontane... OMIM:244460
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Micrognathia, Radial club hand, Short metatarsal, Wide nasal bridge, ... ORPHA:1278
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Short nose, Proximal placement ... OMIM:609945
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Cleft palate, High palate, Pectus excavatum, Hamartoma of tongue, P... OMIM:258860
Mohr Syndrome
Cleft palate, Metaphyseal irregularity, Malar flattening, Accessory oral frenulum, Telecanthus, S... OMIM:252100
Blomstrand Lethal Chondrodysplasia
Short nose, Malar flattening, Distal shortening of limbs, Aplastic clavicle, Short ribs, Synostos... ORPHA:50945
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Telecanthus, Short toe, Short humerus, Short phalanx of finger, Con... OMIM:250215
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormality of epiphysis morphology, Downslanted palpebral fissures, Enamel hypoplas... ORPHA:2643
Cohen Syndrome
Neutropenia, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Hypoplasia of t... ORPHA:193
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Slender build, ... OMIM:131300
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Talipes equinovarus, Malar flattening, Joint contracture of the hand... OMIM:600920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower lim... ORPHA:3035
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Tooth malposition, Anemia, A... OMIM:617475
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Thin clavicles, Hypocalcemic tetany, T... ORPHA:93324
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Wrist swelling, Metatarsal osteolysis, Ulnar deviation of the hand, Ankle swelling,... OMIM:166300
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Supernumerary tooth, Delayed eruption of tee... OMIM:614188
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Supernumerary ribs, Retrognathia, Abnorma... ORPHA:2958
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormality of epiphysis morphology, Osteopetrosis, Craniosynostosis, Bowing of the... ORPHA:667
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... OMIM:615631
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Broad tibial metaphyses, Childhood-onset short-trunk short... OMIM:271630
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... ORPHA:397973
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Atelosteogenesis, Type Ii
Short greater sciatic notch, Short middle phalanx of finger, Increased intervertebral space, Tali... OMIM:256050
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Telecanthus, Splenomegaly, Pectus carinatum, Epicanthus, Acetabular dysplasia, Hypoa... OMIM:617303
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Short clavicles, Tapered finger, Mandibular prognathia, Small hand, Hyperc... ORPHA:401923
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... ORPHA:958
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Short thorax, Limited ... ORPHA:175
Osteogenesis Imperfecta, Type Xiv
Short stature, Increased susceptibility to fractures, Osteopenia, Femoral bowing, Recurrent fract... OMIM:615066
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal thickening, Wide nasal bridge, Abnormal rib morphology ORPHA:1513
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Pectus excavatum, Ptosis, Abnormal clavicle morphology, Abnormal reticulocyte morph... ORPHA:2522
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Short nose, Finger syndactyly, Camptodactyly of finger, Vertebral segmentat... ORPHA:1507
Autosomal Dominant Robinow Syndrome
Oligodontia, Abnormal form of the vertebral bodies, Curly eyelashes, Short nose, Finger syndactyl... ORPHA:3107
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Pulp calcification, Calcinosis, Hyperostosis, Taurodonti... OMIM:211900
Melnick-Needles Syndrome
Omphalocele, Short thorax, Delayed eruption of teeth, Anisospondyly, Delayed cranial suture closu... ORPHA:2484
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... OMIM:224120
Seckel Syndrome 1
Cleft palate, Pes planus, 11 pairs of ribs, Pancytopenia, Elbow flexion contracture, Cone-shaped ... OMIM:210600
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... ORPHA:363417
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Micrognathia, 2-3 toe syndactyly, Radial bowing, Thoracic hypop... OMIM:617866
Mosaic Trisomy 14
Micrognathia, Cleft palate, High palate, Lower limb asymmetry, Wide mouth, Ptosis, Failure to thr... ORPHA:1703
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... ORPHA:1350
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Pes planus, Delayed eruption of teeth, Protrusio acetabuli, H... OMIM:259600
Linear Verrucous Nevus Syndrome
Toe syndactyly, Talipes, Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Short m... ORPHA:2611
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Increased bone mineral density, H... ORPHA:36913
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Malar flattening, Abnormal dental enamel morphology, Hypop... ORPHA:3258
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Mandibular prognathia, Short nose, Patchy distortion of ver... ORPHA:1248
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Joint dislocation, Obesity, Recurrent fractures, Abnormal hip bone morphology, Scoliosis, Hyperph... ORPHA:457059
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Flaring of rib ca... OMIM:253000
Galloway-Mowat Syndrome 7
Hallux valgus, Micrognathia, Cleft palate, Smooth philtrum, High palate, Pectus excavatum, Kyphos... OMIM:618348
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... OMIM:610967
Senior-Loken Syndrome
Abnormality of bone mineral density, Cone-shaped epiphysis, Short stature ORPHA:3156
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Abnormal form of the vertebral bodies, Mal... ORPHA:2769
Majeed Syndrome
Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Me... ORPHA:77297
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Short nose, Malar fla... OMIM:108720
Carpenter Syndrome 1
Omphalocele, Genu varum, Malar flattening, Joint contracture of the hand, Telecanthus, Deviation ... OMIM:201000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3