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Gene: Prkar1a MGI:104878

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein kinase, cAMP dependent regulatory, type I, alpha
Synonyms:
Tse-1,  Tse1,  RIalpha,  1300018C22Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prkar1a 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 predicted to be associated to Prkar1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma, Pathologic fracture OMIM:614569
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Paget Disease Of Bone 3
Fractures of the long bones, Osteosarcoma, Osteolysis, Patchy osteosclerosis OMIM:167250
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Oslam Syndrome
Osteosarcoma, Neoplasm, Radioulnar synostosis OMIM:165660
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm, Osteoporosis OMIM:601811
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Oslam Syndrome
Osteosarcoma, Radioulnar synostosis ORPHA:2760
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly, Limitation of joint... ORPHA:3314
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Diaphyseal corti... OMIM:112250
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases, Rhizom... ORPHA:1453
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the toes, Radial deviation of the 2nd finger, Propo... OMIM:112500
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Hypochondroplasia
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Flared metaphysi... OMIM:146000
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Giant cell tumor of bone, Pathologic fracture, Neurofibromas, Ost... ORPHA:352540
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Reduced bone mineral density, Sh... ORPHA:2370
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Short stature, Renal agenesis, Camptodactyly of finger, Type B br... ORPHA:1471
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short stature, Brachydactyly, Shor... OMIM:615072
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... ORPHA:3246
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Multiple Synostoses Syndrome
Joint stiffness, Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of t... ORPHA:3237
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Osteomesopyknosis
Infertility OMIM:166450
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Maffucci Syndrome
Recurrent fractures, Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Br... ORPHA:163634
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Tetrasomy X
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... ORPHA:9
Dentin Dysplasia
Increased bone mineral density, Exostoses ORPHA:1653
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... OMIM:609052
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... OMIM:614732
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Short statur... ORPHA:93430
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puberty OMIM:233270
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Brachyd... OMIM:226900
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Metatropic Dysplasia
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Disproportionate short-trun... OMIM:156530
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... OMIM:118651
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Joint stiffness, Severe short... ORPHA:969
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Cone-shap... OMIM:618618
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Hyperprolactinemia
Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Werner Syndrome
Osteosarcoma, Meningioma, Osteoporosis, Reduced bone mineral density OMIM:277700
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Achondroplasia
Limited hip extension, Bowing of the legs, Neonatal short-limb short stature, Generalized joint l... OMIM:100800
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
17Q21.31 Microduplication Syndrome
Clinodactyly of the 5th finger, Micrognathia, Short nose, Sandal gap, Delayed puberty, Anteverted... ORPHA:217340
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Severe short statur... ORPHA:1240
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses ... ORPHA:166002
Laron Syndrome
Severe short stature, Short long bone, Delayed menarche, Limb undergrowth, Decreased serum insuli... OMIM:262500
Mast Cell Sarcoma
Sarcoma, Hepatomegaly ORPHA:66661
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Short stature, Ectopic ossification, Short 5th finger, Brachyd... ORPHA:79445
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Cubitus valgus, Clinodactyly, Short foot OMIM:300577
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Disproportionate short... OMIM:271530
Fibrous Dysplasia Of Bone
Elevated circulating growth hormone concentration, Fibrous dysplasia of the bones, Thyroid carcin... ORPHA:249
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias, Brachydactyly, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Brachydactylous Dwarfism, Mseleni Type
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Brachytelomesophalangy,... ORPHA:2619
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... OMIM:300554
Acrocephalopolydactyly
Depressed nasal ridge, Brachydactyly, Abnormal renal morphology, Limb undergrowth, Short nose, Sh... ORPHA:221054
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Microgna... ORPHA:3409
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short ribs, Metaphyseal widening, Depressed nasal bridge, Brachydactyly, Limb undergrowth, Short ... OMIM:618961
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Depressed nasal bridge, Brachydactyly, Acromesomelia, Bowing of the long bones, ... ORPHA:40
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology ORPHA:1277
Lethal Recessive Chondrodysplasia
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... ORPHA:1423
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Short stature, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Sho... OMIM:614078
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Short stature, Depressed nasal bridge, Short nose, Hypogonadism, ... OMIM:302950
Astley-Kendall Dysplasia
Disproportionate short-limb short stature, Micromelia, Epiphyseal stippling ORPHA:85175
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... OMIM:616809
Liposarcoma
Sarcoma ORPHA:69078
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... OMIM:601561
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Joint hyperflexibility ORPHA:2787
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Greenberg Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calcifications, Abn... ORPHA:1426
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism OMIM:615983
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Internal hemorrhag... ORPHA:69077
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Brachydactyly, Arthritis, Intrauterine growth retardation ORPHA:1937
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Short stature, Abnormality of the urinary system, Abnormality of ... ORPHA:2204
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Small epiphyses... OMIM:184260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... OMIM:300863
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism OMIM:212840
Acrodysostosis
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Short stature, Hypoplasia of the r... ORPHA:950
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Osteoarthriti... ORPHA:93351
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Severe short st... OMIM:250215
Hypochondroplasia
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Osteoarthri... ORPHA:429
Hypertension And Brachydactyly Syndrome
Short stature, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... ORPHA:1263
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Short stature, Brachydactyly, Micromelia, Limb undergrowth OMIM:122900
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Short stature, Brach... OMIM:617927
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Multiple Epiphyseal Dysplasia With Robin Phenotype
Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauteri... OMIM:601560
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Wide anterior fontanel, Short stature, Micrognathia, Depressed na... ORPHA:3098
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... ORPHA:1350
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydactyly, Micromelia, Narrow no... OMIM:269870
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphys... ORPHA:177
Langer Mesomelic Dysplasia
Disproportionate short-limb short stature, Severe short stature, Abnormal morphology of ulna, Apl... ORPHA:2632
Jeune Syndrome
Nephronophthisis, Short stature, Cone-shaped epiphysis, Brachydactyly, Nephropathy, Micromelia, P... ORPHA:474
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... ORPHA:163649
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Short stature, Osteopenia, Camptodactyly of finger, Micrognathia, Brachydact... OMIM:211920
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Short stature, Aplasia/Hypoplasia of the fib... ORPHA:52056
Diastrophic Dysplasia
Hip contracture, Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Talip... OMIM:222600
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... ORPHA:353298
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Short stature,... ORPHA:93329
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Micrognathia, Brachydactyly, Wide nasal bridge, Broad thumb, Short metatarsal, ... ORPHA:1278
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Chromosome 20Q11-Q12 Deletion Syndrome
Intrauterine growth retardation, Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyl... OMIM:614257
Meige Disease
Angiosarcoma ORPHA:90186
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification... OMIM:241530
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Osteopenia, Avascular n... OMIM:190351
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis, Anteverted nares ORPHA:1450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones, Short stature OMIM:618392
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short stature, Abnormality of the upper urinary tract, Micr... ORPHA:2145
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abn... ORPHA:2928
Cranioectodermal Dysplasia
Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Brachydactyly, ... ORPHA:1515
Peripheral Dysostosis
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... ORPHA:1795
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... OMIM:120400
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Sh... OMIM:613458
Dent Disease
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Proximal tubulopathy, Rena... ORPHA:1652
Summitt Syndrome
Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Camptodactyly of finger,... ORPHA:3210
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Diastrophic Dysplasia
Joint stiffness, Intrauterine growth retardation, Hypoplastic cervical vertebrae, Neonatal short-... ORPHA:628
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Feingold Syndrome Type 2
Short stature, Brachydactyly, Short middle phalanx of finger, Short thumb, Toe syndactyly ORPHA:391646
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Tetralogy Of Fallot
Intrauterine growth retardation, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasal mo... ORPHA:3303
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Convex nasal ridge, Small hand, Cone-shaped epiphysis, Synostosis... ORPHA:3121
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Severe short-limb dwarfism, Brachydactyly, Bilateral single transverse palmar cr... ORPHA:968
Opsismodysplasia
Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Abnormally ossified vertebra... ORPHA:2746
Desmoid Tumor
Desmoid tumors, Fibroma, Intestinal polyposis, Gastrointestinal hemorrhage, Neoplasm of the skin ORPHA:873
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Multiple Epiphyseal Dysplasia, Beighton Type
Arthralgia of the hip, Genu valgum, Joint stiffness, Metaphyseal spurs, Flat capital femoral epip... ORPHA:166011
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:264700
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Bulbous nose, Severe short stature, Short metacarpal, Cone-sha... OMIM:102370
Smith-Magenis syndrome
Brachydactyly, Short stature DECIPHER:8
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Adrenal hypoplasia, Hydro... ORPHA:85173
20Q11.2 Microdeletion Syndrome
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Intrauterine growth retardation ORPHA:444051
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Brachydactyly, Osteoporosis, Prominent nose, Antev... OMIM:234250
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Short stature, Elevated circulating parathyroid hormone lev... OMIM:103580
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Bardet-Biedl Syndrome 18
Brachydactyly, Renal insufficiency OMIM:615995
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Depressed nasal bridge, Small epiphyses, Short long bone, Disproportionate shor... OMIM:611717
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Disproportionate short-trunk short stature, Premature ost... ORPHA:93314
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cone-shaped epiphysis, Depressed nasal bridge, Brachydactyly, Short phalanx of finge... OMIM:614613
Odontochondrodysplasia
Short stature, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Square pelvis bone, Sho... ORPHA:166272
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma, Metrorrhagia ORPHA:314478
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Ulnar devi... ORPHA:2496
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Achondroplasia
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... ORPHA:15
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Achondrogenesis Type 2
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... ORPHA:93296
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of finger, Brachydac... ORPHA:1927
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Convex nasal ridge, Craniosynostosis, Short stature, Broad nasal ... OMIM:619451
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Pseudopseudohypoparathyroidism
Short stature, Depressed nasal bridge, Brachydactyly, Osteoporosis, Pseudohypoparathyroidism, Sho... OMIM:612463
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... OMIM:602557
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Decreased cranial... OMIM:151210
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Micropenis, Hypoplastic sacrum, Syndactyly... OMIM:113000
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Aplasia of the ... OMIM:113450
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Rothmund-Thomson Syndrome Type 2
Osteopenia, Melanoma, Synostosis involving bones of the upper limbs, Abnormal trabecular bone mor... ORPHA:221016
Achondrogenesis Type 1B
Talipes equinovarus, Severe short stature, Micrognathia, Micromelia, Short nose, Short foot, Ante... ORPHA:93298
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, Right unicoronal synos... OMIM:615314
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... ORPHA:1427
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma ORPHA:882
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:277440
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Broad nasal tip, Brachydactyly, Broad columella, Hypothyroidism, Broad thumb, Ante... OMIM:617763
Cornelia De Lange Syndrome 2
Short stature, Small hand, Micrognathia, Brachydactyly, Limited elbow movement, Anteverted nares,... OMIM:300590
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Achondrogenesis Type 1A
Recurrent fractures, Severe short stature, Micrognathia, Micromelia, Short nose, Short foot, Ante... ORPHA:93299
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Short stature, Depressed nasal bridge, Osteoarthritis, Brachydactyly, Broad hallux, Hip osteoarth... OMIM:165800
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... ORPHA:439822
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia,... ORPHA:2631
Thoracomelic Dysplasia
Disproportionate short-limb short stature, Short ribs, Abnormality of fibula morphology, Limb und... ORPHA:1803
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Rothmund-Thomson Syndrome Type 1
Osteopenia, Melanoma, Abnormal trabecular bone morphology, Squamous cell carcinoma, Myelodysplasi... ORPHA:221008
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Bowing of the legs, Short stature, Brachydactyly, Secondary amenorrhea, Premature pubarche, Lower... OMIM:612847
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Brachydact... OMIM:612462
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Micropenis, Short stature, Hypospadias, Micrognathia, Brachydactyly, Short m... OMIM:612626
Werner Syndrome
Telangiectasia of the skin, Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the or... ORPHA:902
Ruvalcaba Syndrome
Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Narrow n... OMIM:180870
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insi... OMIM:125700
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal, Short stature ORPHA:1276
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Disproportionate short-limb short stature, Short stature, Limited elbow exten... ORPHA:156728
Brachydactyly Type E
Short distal phalanx of finger, Short stature, Joint hyperflexibility, Upper limb asymmetry, Type... ORPHA:93387
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Short Rib-Polydactyly Syndrome
Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long b... ORPHA:1505
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Flexion contracture, Narrow nasal bridge OMIM:618379
Alopecia-Intellectual Disability Syndrome
Flexion contracture, Short stature, Hypergonadotropic hypogonadism, Abnormal nasal morphology, Br... ORPHA:2850
Keipert Syndrome
Broad distal phalanx of finger, Brachydactyly, Broad hallux, Broad thumb, Wide nose, Prominent no... OMIM:301026
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... OMIM:215045
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Brachydactyly, S... OMIM:613005
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Short stature, Micromelia, Abnorma... ORPHA:1508
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Hypospadias, Broad hallu... ORPHA:1520
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Micrognathia, Depressed na... OMIM:256050
Robinow Syndrome, Autosomal Recessive 2
Short stature, Micrognathia, Broad nasal tip, Brachydactyly, Camptodactyly, Mesomelia, Broad thum... OMIM:618529
Simpson-Golabi-Behmel Syndrome, Type 2
Talipes equinovarus, Micropenis, Recurrent upper respiratory tract infections, Congenital hip dis... OMIM:300209
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... OMIM:101800
Hand-Foot-Genital Syndrome
Short 1st metacarpal, Shortening of all middle phalanges of the fingers, Chordee, Clinodactyly of... OMIM:140000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Short stature, Femoral bowing, Osteopenia, Depressed nasal bri... OMIM:616723
Leri Pleonosteosis
Joint stiffness, Abnormality of finger, Severe short stature, Camptodactyly of finger, Brachydact... ORPHA:2900
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Short stature, Cone-shaped epiphysis, Abnormality of bo... ORPHA:3156
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Micropenis, Brachydactyly, Single transverse palmar crease, Shor... OMIM:601224
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Choanal atresi... ORPHA:1914
Roifman Syndrome
Hip contracture, Short toe, Clinodactyly of the 5th finger, Short stature, Brachydactyly, Irregul... OMIM:616651
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short stature, Short humerus, Micro... ORPHA:2019
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Severe short stature, Cone-shaped epiphysis, Abnormality... ORPHA:2511
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... ORPHA:289157
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Pulmonary arterial hypert... ORPHA:662
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short stature, Hyp... OMIM:617396
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... OMIM:210720
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Laron Syndrome
Short toe, Abnormality of the endocrine system, Severe short stature, Hypoplasia of penis, Depres... ORPHA:633
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Craniosynostosis, Micrognathia, Depressed nasal bridge, ... ORPHA:171839
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate short-limb shor... OMIM:269250
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Short nose,... ORPHA:1185
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... OMIM:184250
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Kyphomelic Dysplasia
Joint stiffness, Micrognathia, Micromelia, Large hands, Missing ribs, Bowing of the long bones, A... ORPHA:1801
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short stature, Micrognathia, Brachydactyly, Camptodactyly, Short nose, Clinodactyly... OMIM:613604
Verheij Syndrome
Growth delay, Short stature, Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Shor... OMIM:615583
Codas Syndrome
Short stature, Depressed nasal bridge, Hydroureter, Congenital hip dislocation, Brachydactyly, Jo... ORPHA:1458
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst, Hypogonadism OMIM:615982
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Short stature, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Metaphyseal spurs, Dysplastic ilia... OMIM:608728
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Severe short ... ORPHA:93316
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Depressed nasal ridge, Overlapping fingers, Micromelia, Anterior h... OMIM:601016
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short toe, 2-3 toe syndactyly, Low hanging columella, Hypospadias, Cone-shaped epiphysis, Microgn... OMIM:618659
Microphthalmia With Limb Anomalies
Flared nostrils, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, ... OMIM:206920
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Partial duplication... ORPHA:363417
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... ORPHA:63446
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydac... OMIM:193530
Mietens Syndrome
Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Severe s... ORPHA:2557
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Micrognathia, Flattene... OMIM:618363
Rhyns Syndrome
Chronic kidney disease, Radial bowing, Decreased response to growth hormone stimulation test, Nep... OMIM:602152
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretro... OMIM:236500
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Osteoporosis, Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma, Cryp... OMIM:268400
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Phenobarbital Embryopathy
Hypospadias, Abnormal nasal base, Brachydactyly, Aplasia/Hypoplasia of fingers ORPHA:1919
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:146110
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Renal agenesis, Micrognathia, Short stature, B... OMIM:277170
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short ... ORPHA:1988
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Chronic tubulointerstitial nephritis, Short stature, Metaphyseal widening, Brac... OMIM:614376
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Micropenis, Flared ... OMIM:616897
Premature Aging Syndrome, Penttinen Type
Osteopenia, Micrognathia, Brachydactyly, Narrow nose, Slender long bone, Osteolytic defects of th... OMIM:601812
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of the thumb, Ab... OMIM:311300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Flared iliac wing, Flexion contracture, Short stature, Metaphyseal widening, Broad nas... OMIM:300232
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Severe ... OMIM:156400
Osteoglosphonic Dysplasia
Abnormal bone ossification, Severe short stature, Craniosynostosis, Micrognathia, Brachydactyly, ... ORPHA:2645
Charlie M Syndrome
Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal metacarpal morphology, Triphalangeal thu... ORPHA:1406
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Limited pronation/supination of forearm, Rhizo-meso-acromelic limb shortening, Short stature, Abn... ORPHA:163654
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Coxa vara, Tibial bowing, Distal femoral bowing, Abnormality of renal ex... ORPHA:289176
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Severe short stature, Hypoplasia of the radius, Broad hallux phalanx, Micromelia... ORPHA:2249
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Nephropathy, Short nose, Anteverted nares, Growth delay ORPHA:531
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Severe short stature, Micromelia, Short palm, Limitation of joint mobility ORPHA:168555
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Low hanging columella, Hypoplastic sacrum, Small hand, Osteopenia... OMIM:614813
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... ORPHA:3250
Craniodigital-Intellectual Disability Syndrome
Short stature, Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndac... ORPHA:1514
Disorder Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Reduced bone mineral density, Spina bifida occulta, Genu valgum, Short nose,... ORPHA:2983
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Renal hypoplasia/aplasia, Short stature, Micrognathia, Camptodactyly of fin... ORPHA:2863
Nicolaides-Baraitser Syndrome
Abnormality of finger, Severe short stature, Broad distal phalanx of finger, Brachydactyly, Narro... ORPHA:3051
Moebius Syndrome
Talipes equinovarus, Micropenis, Micrognathia, Hypogonadotropic hypogonadism, Depressed nasal bri... OMIM:157900
2q37 monosomy
Brachydactyly DECIPHER:44
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Intellectual Developmental Disorder, Autosomal Recessive 74
Prominent nose, Brachydactyly, Wide nasal bridge OMIM:617169
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Depressed nasal ridge, Short ribs, Abnorm... ORPHA:1842
Pierpont Syndrome
Short toe, Prominent fingertip pads, Micropenis, Short stature, Broad nasal tip, Deep palmar crea... OMIM:602342
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... ORPHA:1529
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Depressed nasal bridge, Polydactyly, Hypoplastic ischia, Short nose, Intrauterine gr... OMIM:616910
Hall-Riggs Syndrome
Joint stiffness, Short stature, Brachydactyly, Limb undergrowth, Abnormal epiphysis morphology, P... ORPHA:2107
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short ribs, Short stature, Depressed nasal bridge, Iliac crest serration, Mi... OMIM:613320
Thanatophoric Dysplasia
Joint stiffness, Intrauterine growth retardation, Disproportionate short-limb short stature, Abno... ORPHA:2655
Lowry-Wood Syndrome
Clinodactyly of the 5th finger, Short stature, Shallow acetabular fossae, Irregular epiphyses, Br... OMIM:226960
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Beta-Mercaptolactate Cysteine Disulfiduria
Convex nasal ridge, Short stature, Arachnodactyly, Abnormality of the ureter, Micromelia, Genu va... ORPHA:1035
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Postaxial hand po... OMIM:617405
Al-Raqad Syndrome
Sandal gap, Short nose, Brachydactyly, Joint laxity OMIM:616459
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... OMIM:617604
Mastocytosis
Telangiectasia of the skin, Hepatomegaly, Arrhythmia, Hypotension, Sarcoma, Chronic leukemia, Gas... ORPHA:98292
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose, Short stature ORPHA:2015
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Short stature, Brachydactyly, Camptodactyly, Hammertoe, Short foot, Clinodac... OMIM:275900
Achondrogenesis
Severe short stature, Micrognathia, Micromelia, Abnormality of bone mineral density, Short nose, ... ORPHA:932
Multiple Synostoses Syndrome 1
Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Symphalangism affecting the... OMIM:186500
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Recurrent urinary tra... OMIM:244600
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Joint stiffness, Hypoplasia of penis, Hypogonadotropic hypogonadi... ORPHA:1295
Muenke Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges of hand, Coro... OMIM:602849
C Syndrome
Dislocated radial head, Renal cortical cysts, Short stature, Micrognathia, Micromelia, Fused ster... OMIM:211750
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, De... ORPHA:95699
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Micrognathia, Depressed nasal bridge, Short nose, Toe syndactyly ORPHA:261120
Cooks Syndrome
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb ORPHA:1487
11Q22.2Q22.3 Microdeletion Syndrome
Clinodactyly of the 5th finger, Small hand, Micrognathia, Depressed nasal bridge, Brachydactyly, ... ORPHA:444002
Frontonasal Dysplasia 1
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Camptodactyly, Postaxi... OMIM:136760
Atypical Werner Syndrome
Ovarian neoplasm, Increased bone mineral density, Renal neoplasm, Reduced bone mineral density, N... ORPHA:79474
Non-Distal Trisomy 10Q
Convex nasal ridge, Short stature, Micrognathia, Abnormality of the urinary system, Depressed nas... ORPHA:1695
Anauxetic Dysplasia 3
Wide anterior fontanel, Metaphyseal cupping, Severe short stature, Femoral bowing, Trident hand, ... OMIM:618853
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Short stature, Brachydactyly, Bilateral single tr... ORPHA:2377
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Short stature, Slender long bone, Thin bony co... OMIM:619795
Acromesomelic Dysplasia 1
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... OMIM:602875
Osteoglophonic Dysplasia
Broad phalanx, Craniosynostosis, Depressed nasal bridge, Rhizomelia, Short nose, Bowing of the lo... OMIM:166250
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Wolff-Parkinson-White syndrome, Subungual fibromas, Cor... OMIM:613254
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... ORPHA:2547
Anauxetic Dysplasia 1
Hip contracture, Short toe, Delayed ossification of carpal bones, Severe short stature, Hypoplast... OMIM:607095
Pallister-Hall-Like Syndrome
Micropenis, Short ribs, Micrognathia, Depressed nasal bridge, Micromelia, Anterior hypopituitaris... OMIM:241800
Aarskog-Scott Syndrome
Testicular atrophy, Single transverse palmar crease, Short nose, Decreased serum testosterone con... OMIM:305400
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Upper limb undergrowth, Disproportionate short-tru... ORPHA:168549
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Aredyld Syndrome
Type II diabetes mellitus, Short stature, Abnormal nasal morphology, Abnormality of the ureter, B... ORPHA:1133
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Microretrognathia, Prominent nasal tip, Convex nasal ridge, Finger joint hype... OMIM:618870
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Severe short statu... ORPHA:93352
Baller-Gerold Syndrome
Osteosarcoma, Lymphoma ORPHA:1225
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Metaphyseal widening, Brachydactyly, Irregular epiphyses, Mesomelia, Broad thumb, Rhizomelia, Joi... OMIM:612813
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip dislocation, Wide nose, Short... ORPHA:217385
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Depressed nasal br... OMIM:215140
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Micrognathia, Brachydactyly, Genu ... ORPHA:1777
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Convex nasal ridge... OMIM:166210
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Micrognathia, Camptodactyly of finger, Short nose, Growth delay, Intrauterine grow... ORPHA:1495
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Brachydactyly, Wide nasal bridge, Limited elbow extension and supination,... ORPHA:401935
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Heari