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 1.03×10-05
abnormal clavicle morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-14
abnormal rib morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.54×10-13
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
increased circulating iron level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.20×10-06
abnormal eyelid morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.16×10-31
abnormal tooth morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.03×10-15
increased red blood cell distribution width Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.19×10-15
increased circulating creatine kinase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 7.62×10-12
abnormal snout morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.19×10-07
short tibia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.25×10-24
abnormal mandible morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.75×10-14
abnormal femur morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.53×10-14
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
decreased lymphocyte cell number Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.80×10-15
abnormal fibula morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-14
increased bone mineral content Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased bone mineral density Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating phosphate level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 5.92×10-05
abnormal ulna morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.47×10-07
increased neutrophil cell number Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 6.79×10-23
abnormal pelvic girdle bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.99×10-06
abnormal vertebrae morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.29×10-05
increased circulating HDL cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.17×10-06
abnormal gait Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.09×10-08
thrombocytopenia Lrrk1tm1b(KOMP)Wtsi HOM Early adult 9.69×10-17
increased circulating cholesterol level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.71×10-06
abnormal locomotor behavior Lrrk1tm1b(KOMP)Wtsi HOM Early adult 5.04×10-07
decreased circulating alkaline phosphatase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 3.44×10-06
abnormal joint morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.10×10-05
abnormal maxilla morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.27×10-11
increased total body fat amount Lrrk1tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05
small thymus Lrrk1tm1b(KOMP)Wtsi HOM Early adult 0.00
absent teeth Lrrk1tm1b(KOMP)Wtsi HOM Early adult 6.27×10-10
abnormal radius morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 2.48×10-08
increased circulating aspartate transaminase level Lrrk1tm1b(KOMP)Wtsi HOM Early adult 4.80×10-13
abnormal zygomatic bone morphology Lrrk1tm1b(KOMP)Wtsi HOM Early adult 1.46×10-12

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Viewing: all phenotypes

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 0.0%
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 Lateral Orientation

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 Dorso Ventral

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
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis 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
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness OMIM:166700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ... ORPHA:2204
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
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Tibial Hemimelia
Absent tibia OMIM:275220
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short stature, Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of fi... OMIM:182255
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... OMIM:142669
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Hyperkalemia, E... OMIM:620366
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th... OMIM:259700
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Joint stiffness, Avascu... OMIM:132400
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... OMIM:277440
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosi... OMIM:103580
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Growth delay,... OMIM:611490
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia OMIM:613618
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay... OMIM:600969
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... ORPHA:2501
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Epicanthus, Abnormality of the philtrum, Abnormality of the dentition, Synophr... ORPHA:3268
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity,... OMIM:612462
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Delayed o... OMIM:617974
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... OMIM:614727
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality... ORPHA:53
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... OMIM:264700
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Hyperparathyroidism, Abnormal form of the vertebral bodies, Hypocalcemia, Genu... ORPHA:93160
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Clinodactyly of the 5... OMIM:617306
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Melorheostosis
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... ORPHA:2485
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... OMIM:122860
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... OMIM:239000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... ORPHA:79445
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Decreased circul... OMIM:612301
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... OMIM:609325
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation OMIM:618541
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala... ORPHA:163649
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300554
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... OMIM:265900
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res... ORPHA:94089
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... OMIM:602080
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Severe short stature, Micrognathia, Facial hyperostosis, High ili... ORPHA:2780
Sanjad-Sakati Syndrome
Hypoparathyroidism, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnor... ORPHA:2323
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ... ORPHA:289157
Distal Arthrogryposis Type 1
Rocker bottom foot, Camptodactyly of finger, Talipes, Joint stiffness, Ulnar deviation of finger,... ORPHA:1146
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... OMIM:184255
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... OMIM:259730
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join... ORPHA:2635
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga OMIM:615612
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... ORPHA:166016
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Tall stature OMIM:618406
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Osteogenesis Imperfecta, Type Xiii
Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Decreased body w... OMIM:614856
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Pycnodysostosis
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Decr... ORPHA:763
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... ORPHA:1040
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su... ORPHA:93325
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... ORPHA:1525
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Metaphyseal widening, Craniofacial osteosclerosis, Diaphyseal scler... OMIM:618476
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Microg... OMIM:259720
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... OMIM:241530
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... OMIM:190351
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va... ORPHA:800
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ... ORPHA:950
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hyperplasia of the maxilla, Hypopar... ORPHA:231226
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Joint hyperflexibility, Abnormal pelvic gi... ORPHA:2097
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... ORPHA:1782
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... ORPHA:1837
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Hypopla... OMIM:194350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Small hand, Obesity, Short foot, High palate, Short philtrum, Scoliosis, Hyperchole... ORPHA:254531
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... OMIM:619489
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th... ORPHA:1988
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral ... OMIM:618392
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Growth delay, Osteop... ORPHA:3240
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... OMIM:601559
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Temple Syndrome
Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Micrognathia, Overwei... OMIM:616222
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ... OMIM:610539
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hip contracture, Bowing of the long bones, Osteopenia, Hypoparathyroidism, Hyperca... OMIM:156400
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro... ORPHA:2980
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300009
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... ORPHA:1798
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper... ORPHA:281
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... OMIM:119600
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Hypophosphatasia, Childhood
Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Carious teeth... OMIM:241510
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ... ORPHA:37748
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosph... OMIM:193100
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral he... OMIM:610797
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... OMIM:619073
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Tru... ORPHA:633
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Hypoplasia of the maxilla, Congenital g... OMIM:608154
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, ... OMIM:619638
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Epicanthus, Ataxia, Tapered finger, Micrognathia, Kyphosis, Wide nasal bridge, Joint ... ORPHA:2479
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... ORPHA:93351
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... ORPHA:157965
Cohen Syndrome
Thoracic scoliosis, Single transverse palmar crease, Decreased response to growth hormone stimula... OMIM:216550
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Everted upper lip vermilion, Hypertriglyceridemia, Hypercholes... OMIM:182290
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... OMIM:613848
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Osteopenia, Short stature, Slender long bones with narrow diaphyses, Int... ORPHA:50811
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... OMIM:616897
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... ORPHA:99642
Fanconi Renotubular Syndrome 3
Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth... OMIM:615605
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, W... OMIM:201170
Desmosterolosis
Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars... ORPHA:35107
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Supernumerary tooth... ORPHA:3473
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia... ORPHA:89937
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... ORPHA:915
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Parathyroid hyperpla... OMIM:617994
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Wide mout... OMIM:604273
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... ORPHA:2370
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ... ORPHA:77258
Ck Syndrome
Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ... OMIM:300831
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... OMIM:248370
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor... ORPHA:2658
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... ORPHA:819
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Dental crowding, Lipoatrophy,... ORPHA:2457
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani... ORPHA:436
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... ORPHA:582
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Thin upper lip vermilion, Thick eyebrow, Bilateral single transverse palmar cr... ORPHA:502
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... ORPHA:2619
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... OMIM:258480
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:85435
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Neuhauser Syndrome
Osteopenia, Pes planus, Epicanthus, Arachnodactyly, Genu recurvatum, Ataxia, Micrognathia, Wide n... OMIM:249310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... ORPHA:93267
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Micrognathia, Cryptorchidism, Small hand, Obesity, Cleft palate, Short... ORPHA:96184
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Hypoma... OMIM:244460
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palat... ORPHA:1787
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te... OMIM:620099
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ... OMIM:265800
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Camurati-Engelmann Disease
Mandibular prognathia, Waddling gait, Increased bone mineral density, Reduced subcutaneous adipos... OMIM:131300
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... ORPHA:1159
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... ORPHA:85198
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation... OMIM:607143
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... OMIM:611209
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut... ORPHA:221016
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Cra... OMIM:251230
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth... ORPHA:93324
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Orofaciodigital Syndrome Iv
Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Accessory oral... OMIM:258860
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia,... ORPHA:2643
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame... OMIM:258315
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... OMIM:602111
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Tetrasomy X
Epicanthus, Abnormality of the dentition, Upslanted palpebral fissure, Joint hyperflexibility, Ra... ORPHA:9
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Sandal gap, Conical tooth, Thrombocytopenia, Ame... OMIM:617475
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... OMIM:166300
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... ORPHA:50945
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... ORPHA:667
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, High palate, Microdontia, Long hallu... OMIM:259775
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Pectus carinatum, Leukopenia, H... OMIM:617303
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Cervical kyphosis, Highly arched eyebrow, Tapered finger, Overweight, Shor... ORPHA:401923
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Inguinal hernia, Epicanthus, Coxa valga, Cryptorchidism, Osteoporosi... ORPHA:2958
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Short p... ORPHA:193
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... OMIM:615066
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Childhood-onset short-trunk short stature, Disproportionate short-trunk ... OMIM:271630
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, High palate, Abnormal metacarpal morphology, Ab... ORPHA:2233
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... ORPHA:56305
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... ORPHA:56304
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Hip... ORPHA:2484
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Mosaic Trisomy 14
Ptosis, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Cryptorchidism, Short neck, ... ORPHA:1703
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... ORPHA:3107
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... ORPHA:337
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Pulp calcification, Taurodonti... OMIM:211900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... ORPHA:3035
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Wide nasal bridge, Diaphyseal thickening ORPHA:1513
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... ORPHA:811
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners... ORPHA:251014
Senior-Loken Syndrome
Cone-shaped epiphysis, Short stature, Abnormality of bone mineral density ORPHA:3156
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... ORPHA:221008
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... ORPHA:2522
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... OMIM:619752
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... OMIM:256050
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios... ORPHA:2611
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ... OMIM:619636
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... OMIM:112250
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... OMIM:618348
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of... OMIM:224120
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conjunctivitis,... ORPHA:36913
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... ORPHA:83468
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... ORPHA:352540
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Combined Oxidative Phosphorylation Deficiency 55
Epicanthus, Elevated circulating creatine kinase concentration, Single transverse palmar crease, ... OMIM:619743
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... OMIM:618188
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia, Micrognathia ORPHA:1237
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Thrombocytopenia, Hyposegmentation of n... OMIM:169400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720