Gene Summary

Name:
prolyl 3-hydroxylase 1
Synonyms:
Lepre1,  2410024C15Rik,  Gros1,  Leprecan

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content P3h1tm1b(EUCOMM)Wtsi HOM Early adult 7.47×10-08
decreased bone mineral density P3h1tm1b(EUCOMM)Wtsi HOM Early adult 3.54×10-22
decreased grip strength P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.34×10-20
decreased locomotor activity P3h1tm1b(EUCOMM)Wtsi HOM Early adult 6.58×10-06
decreased body length P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.44×10-07
prolonged RR interval P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.25×10-05
abnormal skin morphology P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal heart morphology P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal limb position P3h1tm1b(EUCOMM)Wtsi HOM Early adult 4.23×10-07
abnormal skeletal muscle morphology P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged heart P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
thin skin P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount P3h1tm1b(EUCOMM)Wtsi HOM Early adult 7.82×10-06

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

45 Images

Human diseases caused by P3h1 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 P3h1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased skull ossification, Type 1 collagen overmodification, Decreased calvarial o... OMIM:610915

The table below shows human diseases predicted to be associated to P3h1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Broad ... ORPHA:157965
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses... OMIM:222600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Cigarette-paper scars, Broad femoral ne... OMIM:612350
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Disproportionate short-limb... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Broad foot, Delayed epiphyseal ossification, Shor... ORPHA:79106
Arthrochalasia Ehlers-Danlos Syndrome
Scarring, Inguinal hernia, Scoliosis, Femoral hernia, Coxa vara, Joint stiffness, Thin skin, Micr... ORPHA:1899
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
Acrogeria
Lipoatrophy, Skin ulcer, Scoliosis, Aplasia/Hypoplasia of the skin, Short stature, Thin skin, Mic... ORPHA:2500
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Nemaline bodies, Limb-gird... OMIM:620386
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... ORPHA:750
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Flattened epiphysis, Joint hypermobility, Coxa va... OMIM:618363
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Flexion contrac... OMIM:168400
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Enlarged ... OMIM:208230
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Talipes, Platyspondyly, Vertebral compre... ORPHA:2078
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Kyphoscoliosis, Pes planus, Palmoplantar cutis gyrata, Atrophic scars, Short stature,... ORPHA:75496
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short stature, Platys... ORPHA:93304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen... ORPHA:93360
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis... OMIM:618728
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Severe short stature, Joint hypermobility, Hernia, Coxa valga, Abnormality of su... ORPHA:1901
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco... ORPHA:2501
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Short stature, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe... OMIM:600384
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Kyphoscoliosis, Diaphyseal dysplasia, Osteoporosis, Epiphyseal dysplasia... OMIM:614727
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Short ... OMIM:184255
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Joint hypermobil... ORPHA:536516
Proteus Syndrome
Kyphoscoliosis, Lipoma, Epidermal nevus, Calvarial hyperostosis, Mandibular hyperostosis, Spinal ... OMIM:176920
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Broad thumb, S... ORPHA:3433
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal diaphysis morphology, Aplasia/Hypoplasia of the skin, Papule, Joint stiffnes... ORPHA:2028
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Short stature, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular... OMIM:612847
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Kyphoscoliosis, Atrophic scars, Skeletal muscle atrophy, Joint hypermobility, Pes pla... ORPHA:300179
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Nemaline Myopathy 7
Kyphoscoliosis, Weakness of facial musculature, Genu recurvatum, Nemaline bodies, Limb muscle wea... OMIM:610687
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Type E brachydactyly, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Quadrice... OMIM:255800
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Flared metaphysis, Calcific stippling of infant... OMIM:215100
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Pes cavus, Ankle flexion contracture, Proximal muscle weakness in upper limbs, Di... OMIM:616668
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, L... OMIM:112250
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Hyperekplexia 4
Kyphoscoliosis, Inguinal hernia, Camptodactyly, Flexion contracture, Distal arthrogryposis, Umbil... OMIM:618011
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene... ORPHA:3101
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Severe short stature, Hump-shaped mound of bone in central and posterior port... ORPHA:99642
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ... ORPHA:93316
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Increased variability in musc... OMIM:618484
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Sh... OMIM:147891
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ... OMIM:166210
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Abnormal vertebral morphology, Hamstring contractures, Micrognathia, Elbow ankylo... ORPHA:96183
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Thin skin, Lower limb under... OMIM:613630
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased skull ossification, Type 1 collagen overmodification, Decreased calvarial o... OMIM:610915
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den... OMIM:136300
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor... OMIM:184095
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Progressive Pseudorheumatoid Arthropathy Of Childhood
Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ... ORPHA:1159
Congenital Myopathy 23
Kyphoscoliosis, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeleta... OMIM:609285
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of fingers of the hand... OMIM:114300
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Scoliosis, Vertebral segmentation defect, Abnormal p... ORPHA:1988
Anauxetic Dysplasia 2
Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplasia of the femora... OMIM:617396
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Milia, Thin skin ORPHA:1658
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... OMIM:226900
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Bethlem Myopathy 2
Distal joint hypermobility, Atrophic scars, Scoliosis, Scapular winging, Kyphosis, Increased vari... OMIM:616471
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Short stature, Thin skin, Umbilical hernia, Joint hypermobility, Hernia ORPHA:75497
Familial Cervical Artery Dissection
Abnormality of connective tissue, Hypertension, Facial palsy, Cerebral ischemia, Transient ischem... ORPHA:36382
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotr... ORPHA:496689
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Webbed neck, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased f... OMIM:616897
Periventricular Nodular Heterotopia
Shoulder dislocation, Scoliosis, Thin skin, Joint hypermobility, Patellar dislocation, Hernia ORPHA:98892
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Hypermelanotic macule, Ankylosis of feet small joints, Thin metacarpal cortices, ... OMIM:259600
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... ORPHA:40
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Flared metaphysis, Dislocated rad... OMIM:610758
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Cardiac-Valvular Ehlers-Danlos Syndrome
Hypermobility of distal interphalangeal joints, Kyphoscoliosis, Genu valgum, Sandal gap, Inguinal... ORPHA:230851
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Increased susceptibility to fractures, Kyphoscoliosis, Platyspondyly, Talipes equinov... OMIM:615349
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Inguinal hernia, Atrophic scars, Calcaneovalgus deformity, Thin skin, Mitra... OMIM:225320
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Camptod... OMIM:277720
Central Core Disease
Kyphoscoliosis, Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core reg... ORPHA:597
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Kyphosis, Generalized osteoporosis, Subcutaneous nodule, Os... OMIM:277950
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Congestive heart failure, Hepatomegaly, Abnormality of skeletal muscle fiber size, S... ORPHA:2348
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Kyphosis, Camptodactyly, Short stature, Short thumb, Overlapping toe OMIM:618453
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Genu valgum, Skeletal muscle hypertrophy, Firm muscles, Vertebral wedging, Short ... OMIM:255710
Roussy-Lévy Syndrome
Kyphoscoliosis, Pes cavus, Genu valgum, Distal amyotrophy, Scoliosis, Intrinsic hand muscle atrop... ORPHA:3115
Mandibuloacral Dysplasia
Lipoatrophy, Postnatal growth retardation, Short clavicles, Loss of subcutaneous adipose tissue i... ORPHA:2457
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Mitral valve prolapse, Joint hypermobility, Atypical scarring of skin, Striae distensae OMIM:225310
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Splenomegaly, Proximal upper limb muscle hypertrophy, Xanthomatosis, Myopathy, Loss ... ORPHA:280365
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Pes planus, Distal amyotrophy, Elbow flexion contracture, Hype... OMIM:600175
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Abnormal form of t... ORPHA:263463
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Platyspondyly, Small epiphyses, Thoracic kyphosis, Flared iliac win... OMIM:300232
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee e... OMIM:121050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfec... ORPHA:536467
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,... ORPHA:93333
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Vertebral compression fract... OMIM:613848
Osteogenesis Imperfecta, Type Xi
Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va... OMIM:610968
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ... OMIM:201170
Monosomy 5P
Inguinal hernia, Finger syndactyly, Abnormality of bone mineral density, Scoliosis, Intrauterine ... ORPHA:281
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Lumbar kyphosis in infanc... OMIM:100800
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Disproportionate short-limb short stature, Decreased calvarial ossification, Multiple prenatal fr... OMIM:259410
Scholte Syndrome
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Short foot,... OMIM:300977
Marshall-Smith Syndrome
Reduced bone mineral density, Slender long bone, Scoliosis, Bowing of the long bones, Thin skin, ... ORPHA:561
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... ORPHA:536471
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Pes cavus, Patellar hypoplasia, Flexion contracture of digit, Hyperextensibility ... ORPHA:3041
Silver-Russell Syndrome 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short stature, Thin skin, Micrognathia, Intra... OMIM:618905
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Congestive heart failure, Hepatomegaly, Abnormality of skeletal muscle fiber size, X... ORPHA:79083
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Hypochondroplasia
Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long... OMIM:146000
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Neonatal s... ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee o... ORPHA:93356
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Pes cavus, Hammertoe, Distal amyotrophy, Short foot, Camptodactyly, Short stature... OMIM:275900
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Thin skin, Biconcave flattened vertebrae, Dentinogenesis imperfecta, ... OMIM:166200
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Delayed puberty, Short stature, Reduced subcutaneous adipose tissue, Ulnar deviat... OMIM:612079
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand pol... ORPHA:65759
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Thin skin, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmi... ORPHA:230839
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Kyphosis, Sh... OMIM:618392
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Congenital Heart Defects And Ectodermal Dysplasia
Deep plantar creases, 2-3 toe cutaneous syndactyly, Scoliosis, Broad thumb, Thin skin OMIM:617364
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Joubert Syndrome 18
Kyphoscoliosis, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, J... OMIM:614815
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ... OMIM:616507
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Osteolytic defects of the distal phalange... ORPHA:90154
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Slender long bone, Recurrent fractures, Keloids, Tibial bowing, Osteolytic defects o... OMIM:601812
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp... OMIM:112350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Childhood-onset short-trunk short stature, Arthritis, Hypoplasia of the odontoid ... OMIM:184100
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Distal amyotrophy, Scoliosis, Congenital hip dislocation, Short stature, Thin sk... OMIM:219150
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Pes cavus, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Atrophic scars, Sc... OMIM:130060
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Short ribs, Hypoplastic pelvis, Split foot, Macule, Skin nodule,... ORPHA:2092
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Pes cavus, Hammertoe, Distal amyotrophy, Split hand, Limb muscle weakness, Foot d... OMIM:118220
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Pes planus, Triphalangeal thumb, Short thumb, Aplasia cutis congenita ORPHA:79499
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Aplasia Cutis Congenita
Skin ulcer, Finger syndactyly, Abnormality of bone mineral density, Aplasia cutis congenita over ... ORPHA:1114
Kniest Dysplasia
Tibial bowing, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped femur, Umbilical he... OMIM:156550
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Absent thumb, Aplasia/Hypoplasia of th... OMIM:612447
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal wide... ORPHA:440354
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly, Dermal atrophy OMIM:133690
Warburg Micro Syndrome 1
Kyphoscoliosis, Osteoporosis, Short stature, Micrognathia, Joint hypermobility, Overlapping toe OMIM:600118
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
King-Denborough Syndrome
Kyphoscoliosis, Webbed neck, Scoliosis, Thoracic kyphosis, Short stature, Short neck, Centrally n... OMIM:619542
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Ethanolaminosis
Cardiomegaly OMIM:227150
Ck Syndrome
Kyphoscoliosis, Long fingers, Microretrognathia, Joint hypermobility, Long toe, Lumbar hyperlordosis ORPHA:251383
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ... OMIM:271510
Geroderma Osteodysplasticum
Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext... OMIM:231070
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Epiphyseal stippling, Scarring alopecia of scalp, Severe postnatal growth retarda... ORPHA:35173
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Growth delay OMIM:618006
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Pes cavus, Hammertoe, Distal amyotrophy, Split hand, Foot dorsiflexor weakness, U... OMIM:604563
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Hammertoe... ORPHA:99950
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Postnatal growth retardation, Genu valgum, Metaphyseal sclerosis, Scoliosis, Bowing o... OMIM:612199
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture... OMIM:259450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:600081
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint hypermobility, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Short Syndrome
Lipoatrophy, Radial deviation of finger, Inguinal hernia, Slender long bone, Enlarged epiphyses, ... OMIM:269880
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Pes cavus, Hammertoe, Distal amyotrophy, Split hand, Limb muscle weakness, Foot d... OMIM:118200
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Metaphys... ORPHA:93352
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atro... ORPHA:370980
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Prolidase Deficiency
Reduced bone mineral density, Genu valgum, Abnormal hip bone morphology, Skin ulcer, Aplasia/Hypo... ORPHA:742
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Distal amyotrophy, Split hand, Talipes equinovarus OMIM:607831
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Thin skin, Micrognathia, Intrauterine growth retardation, Skin dimple ORPHA:261304
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Left ventricular hypertrophy, Intrauterine g... OMIM:611209
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Aplasia/Hyp... ORPHA:90153
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Pes cavus, Distal amyotrophy, Hammertoe OMIM:180800
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho... OMIM:251450
Meier-Gorlin Syndrome 1
Absent sternal ossification, Short ribs, Joint hypermobility, Intrauterine growth retardation, Co... OMIM:224690
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Kyphomelic Dysplasia
Disproportionate short stature, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped h... OMIM:211350
De Barsy Syndrome
Osteopenia, Kyphoscoliosis, Postnatal growth retardation, Inguinal hernia, Coxa vara, Congenital ... ORPHA:2962
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Pes cavus, Skeletal muscle hypertrophy, Scoliosis, Disloc... OMIM:300280
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Kyphosis, Wrist hypermobility, Adducted thumb, Long toe, Hip dislocation, Scolio... ORPHA:75840
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Flexio... OMIM:193700
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar sco... OMIM:313420
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis, Kyphosis, Thin skin, Skeletal muscle atrophy, Striae distensae OMIM:219080
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture OMIM:617977
Pseudoprogeria Syndrome
Joint stiffness, Thin skin, Short stature, Growth delay ORPHA:2985
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Pes cavus, Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness OMIM:605588
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Amelia, Omphalocele, Foot oligodactyly, Short femur OMIM:601357
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Sc... OMIM:313400
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Elbow flexion contracture, Osteoporosis, Thin skin, Flexion contract... OMIM:614438
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Torticollis, Broad femoral head, Short sta... OMIM:620639
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Short long bone, Femoral bowing, Hyperlordosis, Kyphos... OMIM:618019
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Disl... OMIM:617425
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Abnorm... ORPHA:1782
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Long foot, Scoliosis OMIM:300844
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Inguinal hernia, Short stature, Umbilical hernia, Joint hypermobility, Cervical k... OMIM:617662
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis, Muscular dystrophy, Distal lower limb muscle weakness, Pes cavus, Progressive dis... ORPHA:459033
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Camptodac... OMIM:617602
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Rahman Syndrome
Talipes equinovarus, Nevus, Kyphoscoliosis, Camptodactyly OMIM:617537
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Kyphoscoliosis, Delayed puberty, Severe postnatal growth retardation, D... ORPHA:391408
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Decreased fibular diamete... OMIM:619489
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter,... OMIM:616470
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Scoliosis, Femoral bowing, Short stature, Recurrent fractures, Increased susceptibili... OMIM:615066
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Nevus sebaceous, Kyphoscoliosis, Hypophosphatemic rickets, Linear nevus sebaceous, Ab... OMIM:163200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat... OMIM:143095
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Femoral bowing, Elbow flexion contracture, Short stature, Flexion co... OMIM:609220
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hallux valgus, Short stature OMIM:615541
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Short stature, Lumbar scoliosis, J... OMIM:620269
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Hammertoe, Distal amyotrophy, Scoli... OMIM:145900
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... ORPHA:289176
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Facial palsy, Split hand, Limb muscle weakness, Generalized amyotrophy OMIM:614707
Bruck Syndrome
Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stiffness, Short stature, Plat... ORPHA:2771
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Atrophic scars, Scoliosis, Arachnodactyly, Thin skin, Umbilical hernia, Joint hy... OMIM:130080
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes, Slender long bone, Cone-shaped epiphyses... OMIM:210730
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Pes planus OMIM:146720
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Intrauterine growth retardation, Finger joint contracture, Symphalangism of the t... OMIM:620494
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Tarsal synostosis, Abnormal diaphysis morphology, Abnormal foot m... ORPHA:1657
Acrootoocular Syndrome
Kyphoscoliosis, Short finger, Grayish enamel, Sandal gap, Abnormality of facial musculature, Hype... ORPHA:2980
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Arachnodactyly, Umbilical hernia, Joint hypermobility, Myopathy, Hip dislocation,... ORPHA:536545
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Pulmonary embolism, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:743
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Thin skin, Striae distensae OMIM:610475
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula... OMIM:607326
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, ... OMIM:619638
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Kyphoscoliosis, Growth delay, Camptodactyly of finger, Micrognathia, Intraute... OMIM:610756
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Glass Syndrome
Anterior tibial bowing, Facial hypotonia, Inguinal hernia, Camptodactyly, Generalized osteoporosi... OMIM:612313
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Inguinal hernia, Scoliosis, Short met... OMIM:180870
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Kyphoscoliosis, Radial deviation of finger, Elbow flexion contracture, F... OMIM:272430
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Inguinal hernia, Hyperextens... OMIM:151050
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Pes cavus, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:101081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:264700
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Pulmonary embolism, Aplasia/Hypoplasia of the skin ORPHA:745
Dermoodontodysplasia
Thin skin OMIM:125640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy OMIM:619099
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Pes cavus, Hip subluxation, Osteoporosis, Growth delay, Long fingers, Micrognathi... ORPHA:447980
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:277440
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis ORPHA:96190
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sandal gap, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology,... ORPHA:536532
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Kyphoscoliosis, Sacral dimple, Calvarial osteoscleros... OMIM:616331
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Sponastrime Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Biconcave vertebral b... ORPHA:93357
Stuve-Wiedemann Syndrome 2
Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Intrauterine growth retardation OMIM:619751
Campomelic Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate... OMIM:114290
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Mucolipidosis Type Iii Alpha/Beta
Kyphoscoliosis, Postnatal growth retardation, Diastasis recti, Generalized osteoporosis, Joint st... ORPHA:423461
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Pes cavus, Facial hypotonia, Scoliosis, Wrist flexion contracture, Micrognathia, ... OMIM:300055
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Webbed neck, Scoliosis, Kyphosis, Short neck, Flexion contracture, Minicore myopathy, Arthrogrypo... ORPHA:178148
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Toe clinodactyly, ... ORPHA:217346
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Inguinal hernia, Short long bone, Femoral bowing, Metap... OMIM:618188
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4... OMIM:608545
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Kyphoscoliosis, Hypermelanotic macule, Platyspondyly, Metaphyseal sclerosis, I... OMIM:607944
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Scoliosis, Camptodactyly, Brachydactyly, Macroglossia, Clinodactyly, Talipes equi... OMIM:616354
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr... OMIM:619795
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Disproportionate short-limb short stature, Short long bone, Short ribs, Metaphyseal irregularity,... OMIM:250420
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Disproportionate short-limb short stature, Mesomelic/rhizomelic limb ... ORPHA:2632
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short long bon... OMIM:618961
Adams-Oliver Syndrome 4
Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the... OMIM:615297
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... ORPHA:3409
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Delayed puberty, Increased vertebral height, Abnormal vertebral morphology, Hyper... OMIM:616817
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Scoliosis, Prominent fingertip pads, Broad thumb, Cafe-au-lait spot, Thin skin, Joint hypermobili... OMIM:617804
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Clavicula... OMIM:224300
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Abnormality of the lower limb, Thin skin, Abnormality of the knee, Palmoplantar hyperkerat... ORPHA:158673
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Cerv... ORPHA:15
Frank-Ter Haar Syndrome
Kyphoscoliosis, Short long bone, Kyphosis, Camptodactyly, Osteoporosis, Cafe-au-lait spot, Short ... OMIM:249420
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly, Short stature, Hip dysplasia, Int... ORPHA:412035
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Metaphyseal ... OMIM:602557
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemive... OMIM:302960
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Osteoporosis, Biconcave vertebral bodies, Thin skin, Sk... OMIM:219090
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin... OMIM:300009
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, U... OMIM:266920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os... OMIM:618395
Arthrogryposis, Distal, Type 4
Osteopenia, Equinovarus deformity, Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5t... OMIM:609128
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, My... OMIM:300257
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,... OMIM:259440
Recon Progeroid Syndrome
Proximal placement of thumb, Short stature, Arachnodactyly, Thin skin, Growth delay, Skeletal mus... OMIM:620370
Coffin-Siris Syndrome 6
Kyphoscoliosis, Short stature, Micrognathia, Diaphragmatic eventration, Brachydactyly, Clinodactyly OMIM:617808
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped... OMIM:307800
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Scoliosis, Congenital contracture, Joint stiffness, Camptodactyly of f... ORPHA:115
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Kyphoscoliosis, Platyspondyly, Molluscoid pseudotumors, Inguinal hernia, Progressive ... OMIM:225400
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Severe short stature, Platyspondyly, Recurre... OMIM:126550
Stickler Syndrome, Type Iv
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Intervertebral space narrowing, Hypop... OMIM:614134
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Thin skin, Striae distensae OMIM:610489
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Wide anterior fontanel, L... ORPHA:3098
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Acute rhabdomyolysis, Pes cavus, Kyphoscoliosis, Genu recurvatum, Split hand, Short stature, Tali... OMIM:604168
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Talipes equinovarus, Webbed neck, Vertebral compression fracture, Hyperextensibil... OMIM:309583
Catel-Manzke Syndrome
Postnatal growth retardation, Genu valgum, Clinodactyly of the 5th finger, Inguinal hernia, Scoli... OMIM:616145
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Inguinal hernia, Scoliosis, Limitation of joint mobility, Osteoporosis, Generaliz... OMIM:236200
Foxg1 Syndrome
Kyphoscoliosis, Scoliosis, Severe postnatal growth retardation, Short stature ORPHA:561854
Arterial Tortuosity Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal hernia, Hiatus hernia, Scoliosis, Fe... ORPHA:3342
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Bent Bone Dysplasia Syndrome 2
Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard... OMIM:620076
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis, Pes cavus, Claw hand deformity, Hammertoe, Distal amyotrophy, Talipes cavus equin... OMIM:601455
Ane Syndrome
Lipoatrophy, Kyphoscoliosis, Delayed puberty, Hyperpigmented nevi, Short stature, Generalized amy... ORPHA:157954
Atrophoderma Vermiculata
Periauricular skin pits, Heart block, Atrophic scars, Hypoplastic pilosebaceous units, Skin pit, ... ORPHA:79100
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Kyphoscoliosis, Limitation of knee mobility, Umbilical hernia, Intrauterine g... OMIM:618947
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Flared iliac wing, Joint stiffness, Metaphyseal irregular... OMIM:253200
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Distal amyotrophy, Ulnar claw, Hammertoe OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Pes cavus, Clubbing of fingers, Scoliosis, Triceps weakness, Areflexia of lower l... OMIM:619574
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short ... ORPHA:2502
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Short stature, Joint contracture, Limb undergrowth, Intrauterine grow... OMIM:618005
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... OMIM:616723
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Inguinal hernia, Hyperten... OMIM:208050
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad thumb, Severe sh... OMIM:615777
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Neonatal short-limb short stature, Short lon... OMIM:224400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Limited elbow movement, Proximal muscle weakness in upper limbs, Limited knee flexi... ORPHA:268
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S... OMIM:259770
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Multiple lentigines, Short stature, Hip dislocation ORPHA:101003
Dermoodontodysplasia
Thin skin, Melanocytic nevus ORPHA:1660
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Pseudoleprechaunism Syndrome, Patterson Type
Kyphoscoliosis, Abnormal odontoid process morphology, Long foot, Genu valgum, Delayed pubic bone ... ORPHA:2976
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Distal amyotrophy, Limit... ORPHA:3454
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Me... OMIM:613320
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Kyphoscoliosis... OMIM:200980
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis, Limb hypertonia, Short stature, Flexion contracture, Skeletal muscle atrophy, Ank... ORPHA:59
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Broad middle phalanx of... OMIM:618853
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short ribs, Short humerus,... OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets