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Gene: P3h1 MGI:1888921

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
thin skin 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
decreased body length P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-07
abnormal skeletal muscle morphology P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount P3h1tm1b(EUCOMM)Wtsi HOM Early adult 8.10×10-06
decreased bone mineral content P3h1tm1b(EUCOMM)Wtsi HOM Early adult 7.32×10-08
decreased grip strength P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.74×10-20
enlarged heart P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral density P3h1tm1b(EUCOMM)Wtsi HOM Early adult 5.14×10-22
prolonged RR interval P3h1tm1b(EUCOMM)Wtsi HOM Early adult 1.34×10-05
abnormal skin morphology P3h1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance P3h1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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.

Adult LacZ

LacZ Images Section

45 Images

View 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
Recurrent fractures, Joint laxity, Type 1 collagen overmodification, Multiple prenatal fractures,... 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
Broad femoral neck, Thin skin, Flexion contracture, Tapered finger, Short femoral neck, Moderatel... ORPHA:157965
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Short finger, Ulnar deviatio... OMIM:222600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis,... OMIM:612350
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportiona... OMIM:156530
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Hip dislocation, Pseudoepiphyses of hand bones, Butterfly vertebrae, Short n... OMIM:613330
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... ORPHA:79106
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin, Coxa valga, Coxa vara, Avascular necrosis of the capital femoral epiphysis, Abnormalit... ORPHA:1899
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... OMIM:271530
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... OMIM:619598
Dysspondyloenchondromatosis
Genu valgum, Generalized joint laxity, Short stature, Vertebral segmentation defect, Multiple enc... ORPHA:85198
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... OMIM:271630
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Coxa valga, Hypoplastic ilia, Short stature, Vertebral wedging, Internal tibial torsi... OMIM:616583
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
Acrogeria
Thin skin, Small hand, Short stature, Micrognathia, Skin ulcer, Aplasia/Hypoplasia of the skin, S... ORPHA:2500
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Disproportionate short-limb short stature, Short h... OMIM:600121
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Amelogenesi... OMIM:618363
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... OMIM:208230
Parastremmatic Dwarfism
Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o... OMIM:168400
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... OMIM:618728
Spondylometaphyseal Dysplasia, Kozlowski Type
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, Ir... OMIM:184252
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Arachnodactyly, Flexion contracture, Short stature, Atrophic scars, Lipodystrophy, Kyp... ORPHA:75496
Geroderma Osteodysplastica
Thin skin, Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hernia, H... ORPHA:2078
Osteoporosis
Osteoporosis OMIM:166710
Autosomal Dominant Brachyolmia
Increased vertebral height, Short stature, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis mor... ORPHA:93304
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Short femur, Aplasia/hypoplasia involving bones of the extremities, Short neck, Dis... ORPHA:94068
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... OMIM:250460
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... ORPHA:2114
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Increased susceptibility to fractures, Hypoplastic ilia, Short stature, Hip dysplasia, Elbow flex... ORPHA:93359
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Micrognathia, Scarring, Hip dislocation, Femoral hernia, Avascular necrosis of the ca... ORPHA:1901
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... ORPHA:93360
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Short stature, Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia o... OMIM:600384
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Short stature, Corner fractu... OMIM:184255
Congenital Disorder Of Glycosylation, Type Iik
Short stature, Joint laxity, Epiphyseal dysplasia, Kyphoscoliosis, Growth delay, Amelogenesis imp... OMIM:614727
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... OMIM:132400
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Myopathic Ehlers-Danlos Syndrome
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... ORPHA:536516
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Short stature, Hypermobility of interphalangeal joints, Broad hallux, Kyph... ORPHA:3433
Juvenile Hyaline Fibromatosis
Skin ulcer, Papule, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology, ... ORPHA:2028
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Short stature, Lower limb undergrowth, Bowing of... OMIM:612847
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Proteus Syndrome
Thin bony cortex, Multiple lipomas, Hypertrophy of skin of soles, Epidermal nevus, Spinal canal s... OMIM:176920
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Talipes equinovarus, Camptodactyly, Adducted thumb, I... OMIM:618011
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Atrophic scars, Joint hypermobility, Kyphoscoliosis, Myopathy, Skeletal muscle atrophy, O... ORPHA:300179
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Lumbar hyperlordosis, Shoulder gi... OMIM:610687
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Skeletal muscle hypertrophy, Fle... OMIM:255800
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Dermal atrophy, Macule, Type E brachydactyly, Aplasia/Hypoplasia of the skin ORPHA:1962
Rhizomelic Chondrodysplasia Punctata, Type 1
Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilaginous skel... 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
Wrist flexion contracture, Distal lower limb amyotrophy, Calf muscle hypertrophy, Areflexia of lo... OMIM:616668
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Disproportionate short-trunk short s... ORPHA:99642
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... OMIM:600785
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures ORPHA:53697
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to slow healing f... OMIM:112250
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Short stature, Micrognath... OMIM:147891
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... ORPHA:93308
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Flynn-Aird Syndrome
Dermal atrophy, Increased bone density with cystic changes, Increased bone mineral density, Kypho... OMIM:136300
Maternal Uniparental Disomy Of Chromosome 9
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Kyphoscoliosi... ORPHA:96183
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Thin skin, Recurrent fractures, Abnormal pelvic girdle bone morphology, Mult... OMIM:166210
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Joint laxity, Type 1 collagen overmodification, Multiple prenatal fractures,... OMIM:610915
Spondylometaphyseal Dysplasia, Schmidt Type
Micrognathia, Irregular acetabular roof, Abnormal metaphysis morphology, Disproportionate short-t... ORPHA:93316
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Sh... OMIM:609324
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Fetal Encasement Syndrome
Thin skin, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Ompha... OMIM:613630
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... ORPHA:3329
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... OMIM:609285
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Milia, Thin skin ORPHA:1658
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Short femoral neck, Coxa vara, Decreased hip abduction, Rhizom... OMIM:183849
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Short metacarpal, Double-layered patella, Short stature, Hip dysplasia, Fl... OMIM:226900
Arthrogryposis, Distal, Type 3
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis... OMIM:114300
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, ... OMIM:614856
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Atrophic scars, Hi... OMIM:616471
Progressive Pseudorheumatoid Arthropathy Of Childhood
Flat capital femoral epiphysis, Camptodactyly, Generalized osteoporosis, Irregular acetabular roo... ORPHA:1159
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Richieri Costa-Da Silva Syndrome
Genu valgum, Generalized bone demineralization, Decreased muscle mass, Diastasis recti, Short sta... ORPHA:3101
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Anauxetic Dysplasia 2
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Short stature, Pos... OMIM:617396
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... ORPHA:3344
X-Linked Ehlers-Danlos Syndrome
Thin skin, Hernia, Short stature, Inguinal hernia, Joint hyperflexibility, Umbilical hernia ORPHA:75497
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... ORPHA:40
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Short stature, Flex... OMIM:610758
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Hypoplasia of the radius, Abnormal trabecular bone morp... ORPHA:75508
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Micrognathia, Metacarpal osteolysis, Pes cavus, Thin... OMIM:259600
Periventricular Nodular Heterotopia
Shoulder dislocation, Thin skin, Hernia, Patellar dislocation, Joint hypermobility, Scoliosis ORPHA:98892
Central Core Disease
Multiple joint contractures, Central core regions in muscle fibers, Joint laxity, Pes planus, Typ... ORPHA:597
Winchester Syndrome
Kyphosis, Generalized osteoporosis, Broad metacarpals, Subcutaneous nodule, Carpal osteolysis, Os... OMIM:277950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, S... OMIM:615349
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Cellulitis, Abnormality of skeletal muscle fiber size, Congestive heart failure, Lipod... ORPHA:2348
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Short stature, Firm muscles, Vertebral wedging, Kyphoscoliosis, Skeletal muscle hype... OMIM:255710
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Webbed neck, Short ribs, Micrognathia, Short femur, Adduct... OMIM:616897
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Increased susceptibility to fractures, Dentinogenesis imperfecta, Biconcave ... OMIM:610968
Roussy-Lévy Syndrome
Genu valgum, Lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Intrinsic hand muscle atrophy... ORPHA:3115
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, Micrognathia, Elbow flexion contracture, Ulnar deviation of finger, Cam... OMIM:277720
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb OMIM:618453
Chst3-Related Skeletal Dysplasia
Genu valgum, Flexion contracture, Intervertebral space narrowing, Rhizomelia, Short metacarpal, I... ORPHA:263463
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... OMIM:600175
Mandibuloacral Dysplasia
Thin skin, Contractures of the large joints, Acroosteolysis of distal phalanges (feet), Micrognat... ORPHA:2457
Atelosteogenesis Type Ii
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... ORPHA:56304
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... OMIM:601559
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Minim... ORPHA:280365
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Broad foot, Flexion contracture, Coxa va... OMIM:300232
Contractural Arachnodactyly, Congenital
Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Micrognathia, Elbow flexio... OMIM:121050
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short stature, Elbow flexion... ORPHA:93333
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin, Bowing of limbs due to multiple fractures, Multiple prenatal fractures, Decreased calv... OMIM:259410
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... OMIM:609616
Cardiac-Valvular Ehlers-Danlos Syndrome
Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Thoracolumbar scoliosis, T... ORPHA:230851
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Scholte Syndrome
Patellar hypoplasia, Small hand, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Short foot,... OMIM:300977
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... OMIM:184253
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Atrophic scars, Joint laxity, Inguinal hernia, Calcaneovalgus deformity, Pes planus, G... OMIM:225320
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Thin skin, Wide anterior fontanel, Short stat... OMIM:201170
Monosomy 5P
Finger syndactyly, Small hand, Recurrent fractures, Short stature, Microretrognathia, Inguinal he... ORPHA:281
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short femur, Limited ... OMIM:100800
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Generalized joint laxity... OMIM:609325
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Striae distensae, Mitral valve prolapse, Joint laxity, Atypical scarring of skin OMIM:225310
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracolumbar scoliosis, 2-3 toe syndactyly, Short toe, Flexion contracture of digit, Patellar hy... ORPHA:3041
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Multiple joint contractures, Micrognathia, Atlantoaxial dislocation, Congenital ky... ORPHA:536467
Familial Cervical Artery Dissection
Thin skin, Abnormality of connective tissue, Striae distensae, Cerebral ischemia, Transient ische... ORPHA:36382
Marshall-Smith Syndrome
Increased susceptibility to fractures, Thin skin, Craniosynostosis, Slender long bone, Joint hype... ORPHA:561
Silver-Russell Syndrome 2
2-3 toe syndactyly, Thin skin, Short stature, Micrognathia, Clinodactyly of the 5th finger, Intra... OMIM:618905
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... ORPHA:83451
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Achilles tendon contracture, Congenital muscular dystrophy,... ORPHA:370980
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, S... OMIM:613848
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Femoral bowing, Short femur, Osteosclerosis of the ulna, O... OMIM:602080
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Femoral bowing, D... ORPHA:93356
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Mitral valve prolapse, Joint hypermobility, Skeletal muscle atrophy, Joint hyperflexib... ORPHA:230839
Pparg-Related Familial Partial Lipodystrophy
Thin skin, Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertension, Hyp... ORPHA:79083
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Multiple joint contractures, Hallux valgus, Patellar dislocation, Micrognath... ORPHA:536471
Multiple Epiphyseal Dysplasia, Beighton Type
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... ORPHA:166011
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Upper limb amyotrophy, Kyphoscoliosis, Proximal muscle weakness in uppe... ORPHA:496689
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Talipes e... ORPHA:65759
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin, Abnormal fingertip morphology, Acroosteolysis of distal phalanges (fee... ORPHA:90154
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Wide anterior fontanel, Kyphosis, Micromelia, Short femur, Femoral bowing, Plat... ORPHA:1860
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... ORPHA:1190
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Ankle clonus, Short stature, Lower limb muscle weakness, Clinodactyly, Campt... OMIM:275900
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Kyphosis, Short stature, Delayed ossification of carpal bones, Inguinal herni... OMIM:618392
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Ivic Syndrome
Triphalangeal thumb, Pectoralis major hypoplasia, Absent thumb, Upper limb undergrowth, Limited e... OMIM:147750
Weismann-Netter Syndrome
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Severe short stature... OMIM:112350
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, 2-3 toe cutaneous syndactyly, Broad thumb, Scoliosis, Deep plantar creases OMIM:617364
Bruck Syndrome 1
Knee flexion contracture, Protrusio acetabuli, Increased susceptibility to fractures, Hip contrac... OMIM:259450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Avascular necrosis of the capital femoral epiphysis, Childhood-ons... OMIM:184100
Hypochondroplasia
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... OMIM:146000
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... OMIM:601668
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Premature Aging Syndrome, Penttinen Type
Dermal atrophy, Thin skin, Lipoatrophy, Short foot, Recurrent fractures, Keloids, Slender long bo... OMIM:601812
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy OMIM:271200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Short ribs, Elbow flexion con... ORPHA:1145
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Abnormal dental enamel morphology, Dermal atrophy, Short... ORPHA:2092
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Dentinogenesis imperfecta, Mesomelic... OMIM:184260
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... OMIM:231070
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Triphalangeal thumb, Short thumb, Aplasia cutis congenita, Pes planus ORPHA:79499
Joubert Syndrome 18
Talipes equinovarus, Camptodactyly, Joint laxity, Kyphoscoliosis, Trident pelvis, Bowing of the l... OMIM:614815
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Lumbar hyperlo... OMIM:608728
Cutis Laxa, Autosomal Recessive, Type Iiia
Thin skin, Short stature, Talipes equinovarus, Hip dislocation, Joint hypermobility, Adducted thu... OMIM:219150
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short stature, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Halberd-shaped pelvis, Clino... ORPHA:2635
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,... OMIM:608940
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital knee dislocation, Increased susceptibility to fractures, Hallux valgus, Kyphosis, Atro... OMIM:130060
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Coxa valga, Joint contracture of the hand, Microgn... OMIM:214150
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Short neck, Limb undergro... OMIM:108720
Osteogenesis Imperfecta, Type I
Increased susceptibility to fractures, Dentinogenesis imperfecta, Thin skin, Recurrent fractures,... OMIM:166200
Warburg Micro Syndrome 1
Short stature, Micrognathia, Joint hypermobility, Overlapping toe, Kyphoscoliosis, Osteoporosis OMIM:600118
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Flexion co... OMIM:607855
Ethanolaminosis
Cardiomegaly OMIM:227150
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, L... OMIM:118220
Kniest Dysplasia
Dumbbell-shaped long bone, Hip dislocation, Short neck, Abnormal cartilage collagen, Flattened, s... OMIM:156550
Congenital Myopathy 13
Flexion contracture, Fatty replacement of skeletal muscle, Short stature, Micrognathia, Kyphoscol... OMIM:255995
Charcot-Marie-Tooth Disease Type 4D
Skewfoot, Upper limb amyotrophy, Abnormal foot morphology, Pes cavus, Kyphoscoliosis, Split hand,... ORPHA:99950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Patellar dislocation, Abnormally ossified vertebrae, Neuropathic spinal arth... ORPHA:35173
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Flat capital femoral epiphysis, Metaphyseal striations, Lumbar interpedicular narrowing, Limited ... OMIM:271510
King-Denborough Syndrome
Webbed neck, Muscle fiber atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Tho... OMIM:619542
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Melanocytic nevus, Short stature, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Delayed pu... OMIM:612079
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Growth delay OMIM:618006
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... ORPHA:440354
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Genu valgum, Thin skin, Metaphyseal sclerosis, Short femor... OMIM:612199
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... OMIM:277300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossification, Recurrent fractures,... OMIM:600081
Buschke-Ollendorff Syndrome
Diffuse skin atrophy, Flexion contracture, Recurrent fractures, Connective tissue nevi, Cutaneous... ORPHA:1306
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis OMIM:236660
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... ORPHA:93307
Ck Syndrome
Microretrognathia, Joint hypermobility, Kyphoscoliosis, Long toe, Long fingers, Lumbar hyperlordosis ORPHA:251383
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... OMIM:614078
Charcot-Marie-Tooth Disease, Type 4B2
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, T... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Kyphoscoliosis, Split hand, Talipes equinovarus OMIM:607831
Roussy-Levy Hereditary Areflexic Dystasia
Pes cavus, Distal amyotrophy, Kyphoscoliosis, Hammertoe OMIM:180800
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... OMIM:609813
Prolidase Deficiency
Thin skin, Genu valgum, Micrognathia, Skin ulcer, Papule, Palmoplantar keratoderma, Aplasia/Hypop... ORPHA:742
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Micrognathia, Skin dimple, Lipoatrophy, Intrauterine growth retardation ORPHA:261304
Short Syndrome
Thin skin, Birth length less than 3rd percentile, Enlarged epiphyses, Slender long bone, Microgna... OMIM:269880
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Thin skin, Flexion contracture, Acroosteolysis of distal phalanges (feet), Short ... ORPHA:90153
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Micrognathia, Camptodactyly, Absent sternal ossification, Flat g... OMIM:224690
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Micromelia, Li... OMIM:211350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, L... OMIM:118200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Premature osteoarthritis, Short neck, Limb undergrowth, Delayed epiphy... ORPHA:93352
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Postnatal growth retardation, Talip... OMIM:611209
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... OMIM:313420
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short neck, Slende... ORPHA:75840
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... OMIM:313400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Scoliosis, Omphalocele, Amelia OMIM:601357
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Pseudoprogeria Syndrome
Thin skin, Joint stiffness, Growth delay, Short stature ORPHA:2985
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Pes cavus, Kyphoscoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:605588
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300554
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Dislocated radial... OMIM:617425
Arthrogryposis, Distal, Type 2A
Wrist flexion contracture, Elbow flexion contracture, Camptodactyly, Hip dislocation, Spina bifid... OMIM:193700
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture OMIM:617977
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Short stature, Increased bone mineral density... ORPHA:1782
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Metaphyseal cupping, Pear-shaped vertebrae, Coxa vara,... OMIM:602111
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... OMIM:143095
De Barsy Syndrome
Talipes calcaneovalgus, Thin skin, Decreased muscle mass, Generalized joint laxity, Coxa vara, Sh... ORPHA:2962
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Striae distensae, Kyphosis, Skeletal muscle atrophy, Osteopenia, Osteoporosis OMIM:219080
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint cont... OMIM:113000
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin, Flexion contracture, Elbow flexion contracture, Hip dislocation, Inguinal hernia, Oste... OMIM:614438
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Long foot, Scoliosis OMIM:300844
Schimmelpenning-Feuerstein-Mims Syndrome
Nevus sebaceous, Recurrent fractures, Abnormal finger morphology, Short stature, Abnormal toe mor... OMIM:163200
Brown-Vialetto-Van Laere Syndrome 2
Generalized amyotrophy, Kyphoscoliosis, Scoliosis, Split hand, Limb muscle weakness, Facial palsy OMIM:614707
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Slender toe, Clinodactyly, Joint laxity, Down-sloping shoulders, Dorsocervical fat ... ORPHA:391408
Acromicric Dysplasia
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... OMIM:102370
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... OMIM:223800
Osteogenesis Imperfecta, Type Xiv
Increased susceptibility to fractures, Recurrent fractures, Short stature, Femoral bowing, Osteop... OMIM:615066
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Osteopenia, Long toe, Arachnodactyly, Long fingers, Po... OMIM:619489
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin skin, Kyphosis, Short stature, Clinodactyly of the 5th finger, Camptodactyly, Joint hypermob... OMIM:617602
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Pes cavus, Abnormal toe morphology, Kyph... ORPHA:459033
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hallux valgus, Short stature OMIM:615541
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Ovoid vertebral bodies, Limi... OMIM:618019
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Knee flexion contracture, Hypoplastic pubic bone, Hip contracture, Minimal subcutaneous fat, Slen... OMIM:210730
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu... OMIM:609220
Ehlers-Danlos Syndrome, Periodontal Type, 1
Thin skin, Palmoplantar cutis laxa, Generalized joint laxity, Atrophic scars, Joint laxity, Ingui... OMIM:130080
Joint Laxity, Short Stature, And Myopia
Short stature, Cervical kyphosis, Talipes equinovarus, Joint hypermobility, Inguinal hernia, Kyph... OMIM:617662
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossification, Recurrent fractures,... OMIM:241530
Dermatoosteolysis, Kirghizian Type
Abnormal foot morphology, Skin ulcer, Osteolysis, Abnormal diaphysis morphology, Aplasia/Hypoplas... ORPHA:1657
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Pes planus OMIM:146720
Bruck Syndrome
Recurrent fractures, Kyphosis, Short stature, Arthrogryposis multiplex congenita, Scoliosis, Plat... ORPHA:2771
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,... ORPHA:1423
Acrootoocular Syndrome
Short toe, Short metacarpal, Short stature, Grayish enamel, Micrognathia, Hyperpigmented nevi, Sh... ORPHA:2980
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short stature, Short long bone, ... ORPHA:93296
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Growth delay, Intrauterine growth retardat... OMIM:610756
Rahman Syndrome
Kyphoscoliosis, Camptodactyly, Talipes equinovarus, Nevus OMIM:617537
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Thoracic kyphosis, Femo... OMIM:619638
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:743
Hypertrophic Neuropathy Of Dejerine-Sottas
Pes cavus, Kyphoscoliosis, Scoliosis, Split hand, Hammertoe, Distal lower limb muscle weakness, D... OMIM:145900
Kyphoscoliotic Ehlers-Danlos Syndrome
Shoulder dislocation, Micrognathia, Hip dislocation, Congenital kyphoscoliosis, Knee dislocation,... ORPHA:536545
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Charcot-Marie-Tooth Disease Type 1A
Pes cavus, Kyphoscoliosis, Skeletal muscle atrophy, Calf muscle hypertrophy ORPHA:101081
Ruvalcaba Syndrome
Short phalanx of finger, Small hand, Short foot, Short metacarpal, Kyphosis, Short stature, Micro... OMIM:180870
Crisponi/Cold-Induced Sweating Syndrome 1
Tapered finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Pes planus, Adducted thum... OMIM:272430
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Hypoplastic cervical verte... ORPHA:628
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Thin skin, Aplasia/Hypoplasia of the skin ORPHA:745
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, R... OMIM:264700
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Striae distensae, Kyphosis, Osteopenia, Osteoporosis OMIM:610475
Dermoodontodysplasia
Thin skin OMIM:125640
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, R... OMIM:277440
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... OMIM:607326
Lenz-Majewski Hyperostotic Dwarfism
Proximal symphalangism of hands, Knee flexion contracture, Enamel hypoplasia, Thin skin, Hyperext... OMIM:151050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Dispropo... ORPHA:93315
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis OMIM:619099
Sponastrime Dysplasia
Hip subluxation, Broad foot, Flat capital femoral epiphysis, Hip dislocation, Ivory epiphyses of ... ORPHA:93357
Glass Syndrome
Thin skin, Anterior tibial bowing, Short stature, Micrognathia, Camptodactyly, Inguinal hernia, G... OMIM:612313
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Coxa vara, Short stature, Rickets of the lower limbs, Abnormal trabecular bone morpho... ORPHA:289176
19P13.3 Microduplication Syndrome
Hip subluxation, Hip dysplasia, Micrognathia, Clinodactyly, Hip dislocation, Pes cavus, Kyphoscol... ORPHA:447980
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Knee dislocation, Sacral dimp... ORPHA:536532
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, N... ORPHA:168549
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Tracheomalacia, Metatarsus... OMIM:114290
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis, Abnormal fibular epiphysis morphology ORPHA:96190
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Larsen-Like Syndrome
Wide anterior fontanel, Short stature, Clinodactyly of the 5th finger, Joint laxity, Bipartite ca... OMIM:608545
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Small hand, Micrognathia, Pes cavus, Kyphoscolios... OMIM:300055
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Micrognathia, Delayed o... ORPHA:93346
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... ORPHA:2632
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Dentinogenesis imperfecta, Pseudoarthrosis, Recurrent fractures, Short stature,... OMIM:619795
Dysosteosclerosis
Short diaphyses, Micrognathia, Sclerotic scapulae, Hypoplastic vertebral bodies, Facial paralysis... OMIM:224300
Stuve-Wiedemann Syndrome 2
Short long bone, Camptodactyly, Scoliosis, Bowing of the long bones, Intrauterine growth retardation OMIM:619751
19Q13.11 Microdeletion Syndrome
Thin skin, Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Aplasia cutis conge... ORPHA:217346
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Kyphosis, Short stature, Toe syndactyly, Micrognath... ORPHA:3409
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short neck, A... OMIM:611717
Kniest Dysplasia
Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, Delayed patellar ossification... ORPHA:485
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed epiphyseal ossificat... ORPHA:289157
Spinocerebellar Ataxia, Autosomal Recessive 20
Clinodactyly, Camptodactyly, Macroglossia, Kyphoscoliosis, Scoliosis, Brachydactyly, Talipes equi... OMIM:616354
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... OMIM:607143
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Short statur... OMIM:616331
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal irregularity, Irregular vertebral endplates, Metaphyseal sclerosis, Increased interve... OMIM:607944
Chondrodysplasia Punctata 2, X-Linked Dominant
Patellar dislocation, Rhizomelia, Epiphyseal stippling, Hemiatrophy, Abnormal pelvic girdle bone ... OMIM:302960
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Increased vertebral height, Short stature, Micrognathia, Abnormal vertebral morpho... OMIM:616817
13Q12.3 Microdeletion Syndrome
Short stature, Hip dysplasia, Camptodactyly, Congenital diaphragmatic hernia, Kyphoscoliosis, Hem... ORPHA:412035
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... OMIM:618961
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Adams-Oliver Syndrome 3
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Aplasia cutis congenita, Absent toe, Short d... OMIM:614814
Frank-Ter Haar Syndrome
Short phalanx of finger, Micrognathia, Camptodactyly, Metatarsus adductus, Bilateral talipes equi... OMIM:249420
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Short long bone, Short ribs, Femoral bowing, Short femur, Inguinal hernia, F... OMIM:618188
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300009
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Webbed neck, Kyphosis, Clinodactyly, Short neck, Minicore myopathy, Scoliosi... ORPHA:178148
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu ... OMIM:250420
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia cutis congenita, Aplasia of the m... OMIM:615297
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Pate... OMIM:618395
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... OMIM:609128
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Lumbar hyperlor... OMIM:602557
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Short stature, Large tarsal b... OMIM:215150
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Micrognathia, Short neck, Postaxial hand polydactyly, Short toe, Phalang... OMIM:266920
Pituitary Adenoma 4, Acth-Secreting
Thin skin, Biconcave vertebral bodies, Striae distensae, Kyphosis, Skeletal muscle atrophy, Verte... OMIM:219090
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Protrusio acetabuli, Thin skin, Palmoplantar cutis laxa, Progressive congenital scoliosis, Joint ... OMIM:225400
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Thin skin, Tapered finger, Prominent crus of helix, Cafe-au-lait spot, Joint hypermobility, Broad... OMIM:617804
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Thin skin, Abnormality of the knee, Milia, Palmoplantar hyperkeratosis, Abnormali... ORPHA:158673
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Congenital kyphoscoliosis, Scoliosis, Arachnodactyl... ORPHA:115
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Short stature, Pes cavus, Kyphoscoliosis, Acute rhabdomyolysis, Split hand, Talipes equinovarus, ... OMIM:604168
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Severe short stature, Osteopenia, Scoliosis, Platyspondyly, ... OMIM:126550
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Coffin-Siris Syndrome 6
Short stature, Diaphragmatic eventration, Micrognathia, Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:617808
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Severe platyspondyly, Short neck, Ovoid vertebral bodies, Limb undergr... OMIM:151210
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Thin skin, Recurrent fractures, Multiple cafe-au-lait spots, Subcutaneous nodule, Scoliosis, Abno... ORPHA:457059
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Biconcave vertebral bodies, Limitation of joint mobility, Inguinal hernia, Generalized osteoporos... OMIM:236200
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... ORPHA:3098
Catel-Manzke Syndrome
Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Clino... OMIM:616145
Achondroplasia
Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension, Narrow greater sciat... ORPHA:15
Pseudoleprechaunism Syndrome, Patterson Type
Genu valgum, Metaphyseal sclerosis, Palmoplantar cutis laxa, Flat acetabular roof, Abnormal limb ... ORPHA:2976
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Striae distensae, Kyphosis, Osteopenia, Osteoporosis OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Decreased muscle mass, Webbed neck, Recurrent fractures, Hyperextensibility of ... OMIM:309583
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Areflexia of lower limbs, Triceps weakness, Clubbing ... OMIM:619574
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Arterial Tortuosity Syndrome
Thin skin, Femoral hernia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa ... ORPHA:3342
Primary Pigmented Nodular Adrenocortical Disease
Increased susceptibility to fractures, Thin skin, Striae distensae, Abnormal subcutaneous fat tis... ORPHA:189439
Czech Dysplasia
Short toe, Intervertebral space narrowing, Flexion contracture, Irregular vertebral endplates, Sh... OMIM:609162
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Short neck, Postaxia... OMIM:304120
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Biconc... OMIM:259420
Foxg1 Syndrome
Severe postnatal growth retardation, Kyphoscoliosis, Scoliosis, Short stature ORPHA:561854
Atrophoderma Vermiculata
Hyperkeratotic papule, Atrophic scars, Skin pit, Heart block, Hypoplastic pilosebaceous units, Pe... ORPHA:79100
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Biconcave vertebral bodies, Recurrent fractures, Severe pl... OMIM:259770
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... ORPHA:2502
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Flexion contracture, Flared iliac wing, Anterior wedging of L2, Ovoid ver... OMIM:253200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hip dislocation, Kyphoscoliosis, Limb undergrowth, Osteopenia, Joint contracture, ... OMIM:618005
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Dermoodontodysplasia
Thin skin, Melanocytic nevus ORPHA:1660
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Webbed neck, Short 1s... OMIM:620076
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Short stature, Narrow pelvis bone,... OMIM:616723
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Hip dislocation, Multiple lentigines, Short stature ORPHA:101003
Desbuquois Dysplasia 2
Short phalanx of finger, Broad foot, Advanced ossification of carpal bones, Coxa valga, Hip dislo... OMIM:615777
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of joint mobil... ORPHA:3454
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Toe syndactyly, Hip d... OMIM:311300
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Neonatal short-limb short stature, Advanced ossification of carpal bones, Joint contracture of th... OMIM:224400
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Flexion contracture, Micrognathia, Elbow flexion contracture, Talipes equinovar... OMIM:618947
Arterial Tortuosity Syndrome
Thin skin, Flexion contracture, Micrognathia, Joint laxity, Inguinal hernia, Congenital diaphragm... OMIM:208050
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Foot polydactyly, Hypoplasia of the radius, Elbow f... OMIM:200980
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Kyphoscoliosis, Back pain, Localized osteoporosis, Cervical spondylosis ORPHA:199354
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Kyphoscoliosis, Hammertoe OMIM:214400
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short metacarpal, Broa... OMIM:618853
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Reduced subcutaneous ... OMIM:248370
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Knee flexion contracture, Tapered finger, Hip contracture, Small hand, Short stature, Clinodactyl... ORPHA:488642
Allan-Herndon-Dudley Syndrome