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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Spermatogenic Failure 17
Male infertility OMIM:617214
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, Pathologic fracture, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Paget Disease Of Bone 3
Osteosarcoma, Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Oslam Syndrome
Osteosarcoma, Radioulnar synostosis, Neoplasm OMIM:165660
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Osteoporosis, Neoplasm OMIM:601811
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis OMIM:135290
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
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Oslam Syndrome
Osteosarcoma, Radioulnar synostosis ORPHA:2760
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... ORPHA:3314
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Fibrosarcoma, Osteopenia, Pathologic fracture, Histiocytoma, Fract... OMIM:112250
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Papilloma Of Choroid Plexus
Osteosarcoma, Choroid plexus papilloma OMIM:260500
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Brachydactyly, Type A1
Distal symphalangism of hands, Short metacarpal, Slender metacarpals, Short distal phalanx of fin... OMIM:112500
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Osteochondroma, Hip contracture, Burkitt... OMIM:620232
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Oncogenic Osteomalacia
Pathologic fracture, Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Neoplasm of ... ORPHA:352540
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Acquired Ichthyosis
Sarcoma, Neoplasm, Lymphoma, Multiple myeloma ORPHA:454
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th... ORPHA:2370
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Hypoplastic pel... ORPHA:750
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Renal agenesis, Short stature, Short distal phalanx of fing... ORPHA:1471
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Joint stiffness, Symphalangi... ORPHA:3237
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Tetrasomy X
Premature ovarian insufficiency, Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synost... ORPHA:9
Osteomesopyknosis
Infertility OMIM:166450
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Disproportiona... OMIM:609052
Dentin Dysplasia
Increased bone mineral density, Exostoses ORPHA:1653
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Short nose, Decreased response to growth hormone stimulation test, Postnatal growth r... OMIM:614732
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Gombo Syndrome
Delayed puberty, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Short metacarpal, Hypoplasia of the femoral head, Epiphyseal dysp... OMIM:226900
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb short stature, ... OMIM:156530
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses OMIM:133700
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ... OMIM:614078
Ollier Disease
Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiomatosis ORPHA:296
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Acromicric Dysplasia
Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Joint stiffness, Short... ORPHA:969
Hypochondroplasia
Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long... OMIM:146000
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized... OMIM:600785
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Werner Syndrome
Osteosarcoma, Meningioma, Reduced bone mineral density, Osteoporosis OMIM:277700
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... OMIM:300604
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Primary peritoneal carcinoma, Melanoma, Prostate canc... ORPHA:145
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Laron Syndrome
Short long bone, Delayed menarche, Limb undergrowth, Severe short stature, Decreased serum insuli... OMIM:262500
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microg... ORPHA:217340
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ... ORPHA:166002
Mast Cell Sarcoma
Sarcoma, Hepatomegaly ORPHA:66661
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi... OMIM:112800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Mesomelia, Brachydactyly, Convex nasal ridge ORPHA:1277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Abnormal renal collecting system morphology, Clinodactyly of the 5th finger, Knee fle... OMIM:616809
Dent Disease 1
Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300009
Acrocephalopolydactyly
Short nose, Abnormal renal morphology, Short long bone, Depressed nasal ridge, Limb undergrowth, ... ORPHA:221054
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ... ORPHA:1426
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Retinoblastoma
Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia OMIM:180200
Fibrous Dysplasia Of Bone
Rickets, Thyroid carcinoma, Pathologic fracture, Testicular neoplasm, Osteomalacia, Abnormal bone... ORPHA:249
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Short stature, Brachydactyly, Short... ORPHA:79445
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Abnormal f... ORPHA:2619
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300554
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Bowing of the long bones, Joint stiffness, Brachydactyly, Joint h... ORPHA:40
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Liposarcoma
Sarcoma ORPHA:69078
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Anteverted nares, Short long bone, Short ribs, Coarse metaphyseal trabecularization, ... OMIM:618961
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma ORPHA:626
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Depressed nas... OMIM:300244
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Osteoporosis, Brachydactyly ORPHA:2787
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ... OMIM:251450
Astley-Kendall Dysplasia
Micromelia, Disproportionate short-limb short stature, Epiphyseal stippling ORPHA:85175
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Short stature, Limb undergrowt... ORPHA:2204
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Short stature, Short femoral ... OMIM:618392
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Hypogonadism, Brachydactyly, Micropenis OMIM:615983
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Elevated circulating parathyroid hormone level, Disproportionate short-limb short sta... OMIM:618618
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca... ORPHA:157798
Eng-Strom Syndrome
Arthritis, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation ORPHA:1937
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Short stature, Hypogonadism, Short... OMIM:302950
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... OMIM:618435
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Hypospadias, Anteverted nares, Short metacarpal, Congenital hypothy... OMIM:614613
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia... OMIM:300863
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... OMIM:618728
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Aplasia/hypoplasia inv... ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro... ORPHA:93351
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, Limitation of ... ORPHA:3098
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Chromosome 20Q11-Q12 Deletion Syndrome
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Intrauterine growth retardation, Adducted thumb... OMIM:614257
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Delayed epiphyseal os... OMIM:241530
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hypertension, Internal hemorrhage, Sarcom... ORPHA:69077
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Hypogonadism, Cone-shaped epiphysis, Coxa valga, Gen... ORPHA:950
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Metaphyseal irregul... OMIM:177170
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Single transverse palmar cre... OMIM:617927
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Abnormal bone ossification, Abnormal femoral neck/head morphology, Abnormality of the... ORPHA:163649
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio... ORPHA:177
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Central diabetes insipidus, Wide nose, Decreased circulating osteocalcin ... OMIM:125700
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome... ORPHA:2632
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal... ORPHA:1350
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac... ORPHA:1856
Jeune Syndrome
Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Abnormal pelvic gir... ORPHA:474
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar... ORPHA:93329
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormality of the ureter, Deviation of finger, Hydronephrosis ORPHA:1450
20Q11.2 Microdeletion Syndrome
Camptodactyly, Brachydactyly, Intrauterine growth retardation, Adducted thumb, Finger clinodactyly ORPHA:444051
Feingold Syndrome Type 2
Short stature, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Roifman Syndrome
Bilateral single transverse palmar creases, Postnatal growth retardation, Clinodactyly of the 5th... ORPHA:353298
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly OMIM:615995
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... ORPHA:93307
Infantile Myofibromatosis
Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the skin, Neoplasm of the l... ORPHA:2591
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Growth delay, Short stature, Brachydactyly, Short 5th finger, Aplasia/Hypopl... ORPHA:52056
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Smith-Magenis syndrome
Short stature, Brachydactyly DECIPHER:8
Meige Disease
Angiosarcoma ORPHA:90186
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Wide nose, Finger syndactyly, ... ORPHA:3210
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Hypertension And Brachydactyly Syndrome
Type E brachydactyly, Short metacarpal, Short stature, Short phalanx of finger, Cone-shaped epiph... OMIM:112410
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... ORPHA:2114
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short nose, Wide distal femoral metaphysis, Wide nose, Delayed epip... OMIM:613320
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Fasting hyperinsulinemia,... OMIM:619489
Keipert Syndrome
Broad distal phalanx of finger, Wide nose, Camptodactyly, Broad thumb, Broad hallux, Brachydactyl... OMIM:301026
Desmoid Tumor
Fibroma, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Neonatal short-limb short stature, Proximal placeme... ORPHA:628
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Broad distal phalanx of the thumb, Renal agenesis, Bifid distal phalanx ... OMIM:120400
Craniosynostosis, Herrmann-Opitz Type
Short nose, Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the upper urinary tra... ORPHA:2145
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri... ORPHA:1652
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Clinodactyly of the 5th finger, Jo... ORPHA:1515
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hyp... OMIM:602152
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... ORPHA:15
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short metacar... OMIM:611717
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Micromelia, Short statur... ORPHA:2928
Tetralogy Of Fallot
Intrauterine growth retardation, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasal mo... ORPHA:3303
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Ruvalcaba Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Hematur... ORPHA:3121
Hall-Riggs Syndrome
Anteverted nares, Osteoporosis, Metaphyseal dysplasia, Brachydactyly, Prominent nose, Intrauterin... OMIM:234250
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Acromicric Dysplasia
Anteverted nares, Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of fin... OMIM:102370
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Odontochondrodysplasia
Abnormal metaphysis morphology, Short nose, Square pelvis bone, Bowing of the long bones, Microme... ORPHA:166272
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo... ORPHA:166011
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Mesomelic leg shortening, Bowing... OMIM:249710
Diastrophic Dysplasia
Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Disproportiona... OMIM:222600
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to ... OMIM:103580
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Craniosynostosis, Short stature, Broad nasal ... OMIM:619451
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Short stature, Broad hallux, Short thumb, Brachydac... OMIM:165800
Basal Cell Nevus Syndrome 2
Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas OMIM:620343
Ovarian Fibrothecoma
Metrorrhagia, Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Image Syndrome
Hypospadias, Adrenal hypoplasia, Micromelia, Hydronephrosis, Metaphyseal dysplasia, Hypogonadism,... ORPHA:85173
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine... ORPHA:790
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,... ORPHA:83469
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Hypoplastic pubic bone, Abnormal epiphysis morphology... ORPHA:2746
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... ORPHA:2496
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Pseudohypoparathyroidism, Short stature, Brachy... OMIM:612463
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly... OMIM:615314
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Limited elbow movement, Proximal placement of thumb, Anteverted nar... OMIM:300590
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Delayed epiphyseal ossif... OMIM:277440
Acromesomelic Dysplasia 3
Radial deviation of finger, Disproportionate short-limb short stature, Aplasia of the proximal ph... OMIM:609441
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Micrognathia, Short middle phalanx of finger, Brachydactyly, Intraute... OMIM:612626
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Short metacarpal, Deformed humeral heads, Coxa va... ORPHA:2831
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Generalized aminoaciduri... OMIM:264700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow... ORPHA:2631
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the rectum... ORPHA:44890
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Decreased cranial base ossification, Rhizomelia, Severe limb s... OMIM:151210
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea, Short stature, Lower limb undergrowth, Brachydactyly, B... OMIM:612847
Werner Syndrome
Hypertension, Hypogonadism, Neoplasm, Acral lentiginous melanoma, Thyroid carcinoma, Ovarian neop... ORPHA:902
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... OMIM:614350
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Tibial bowin... OMIM:600081
Weiss-Kruszka Syndrome
Short nose, Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger... ORPHA:502430
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Achondrogenesis Type 1B
Short nose, Anteverted nares, Abnormal enchondral ossification, Micromelia, Micrognathia, Severe ... ORPHA:93298
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge, Flexion contracture, Hip dysplasia OMIM:618379
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Basal cell carcinoma, Pathologic fracture, Squamous cell carcin... ORPHA:221016
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Craniofrontonasal Dysplasia
Midline defect of the nose, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Craniosynost... ORPHA:1520
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh... OMIM:256050
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Joint hypermobility, Intrauterine growth retardation, Cone-sh... ORPHA:439822
Vitamin K Antagonist Embryofetopathy
Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Brachydactyly, Short distal ... ORPHA:1914
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Achondrogenesis Type 1A
Short nose, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micromelia, ... ORPHA:93299
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Brachydactyly-Arterial Hypertension Syndrome
Short stature, Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Ruvalcaba Syndrome
Delayed puberty, Limited elbow extension, Short metatarsal, Underdeveloped nasal alae, Short meta... OMIM:180870
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Short stature, Limb undergrow... ORPHA:156728
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Anauxetic Dysplasia 2
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Short stature,... OMIM:617396
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal finger m... ORPHA:2900
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Osteopenia, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the ... ORPHA:221008
Yellow Nail Syndrome
Renal neoplasm, Neoplasm of the lung, Pulmonary arterial hypertension, Sarcoma, Biliary tract neo... ORPHA:662
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Small thenar eminence, Ulnar d... OMIM:140000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Proportionate short stature, Osteoarthritis, Micromelia ORPHA:93283
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, Advanced tar... OMIM:215045
Alopecia-Intellectual Disability Syndrome
Split hand, Hypergonadotropic hypogonadism, Short stature, Growth delay, Abnormal nasal morpholog... ORPHA:2850
Potocki-Shaffer Syndrome
Short nose, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachydactyly, Micr... OMIM:601224
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, Hypospadias, Low hanging columella, 2-3 toe syndactyly, Vesicoureteral reflux, Tape... OMIM:618659
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Senior-Loken Syndrome
Premature ovarian insufficiency, Nephronophthisis, Abnormality of bone mineral density, Short sta... ORPHA:3156
Roifman Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Anteverted nares, Underdeveloped na... OMIM:616651
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Short stature, Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Br... OMIM:619248
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Hypoplasia of penis, Depressed nasal ridge,... ORPHA:633
Schneckenbecken Dysplasia
Short nose, Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat ace... OMIM:269250
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypospadias, Craniosynostosis, Anteverted nares, Bowing of the long bones, Renal agen... ORPHA:171839
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine growth retard... OMIM:210720
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly, Abnormal nasal base norphology ORPHA:1919
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Hypogonadism, Brachydactyly OMIM:615982
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Hypospadias, Y-shaped metatarsals, Craniosynostosis, Postaxial hand polydacty... OMIM:175700
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Subependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251639
Ependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251636
Feingold Syndrome 2
Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short s... OMIM:614326
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short nose, Hypospadias, Flared metaphysis, Anteverted nares, Short ribs, Decreased s... OMIM:616897
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Slender long bone... ORPHA:1185
Moebius Syndrome
Radial deviation of finger, Talipes equinovarus, Split hand, Abnormal pelvic girdle bone morpholo... OMIM:157900
Codas Syndrome
Short nose, Midline defect of the nose, Hydroureter, Anteverted nares, Abnormal pelvic girdle bon... ORPHA:1458
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Abnormal metacarpal morphology, Sandal gap, Narrow nasal bridge, ... ORPHA:3051
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Short stature, Brachydactyly, Coxa valga OMIM:132450
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Limitation of joint mobility, Flat acetabular roof, Bowing of the... ORPHA:1801
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Mild short... OMIM:193530
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Broad long bone diaphyses, A... OMIM:614376
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Short nose, Depressed nasal bridge, Short columella OMIM:155050
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis, Short thumb, Brachydactyly ORPHA:435804
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Vesicoureteral reflux, Decreased calvarial ossification, Short stature, Microg... OMIM:618265
Fibrochondrogenesis 2
Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Short... OMIM:614524
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Acrocapitofemoral Dysplasia
Flared iliac wing, Coxa vara, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarpa... ORPHA:63446
Lowry-Wood Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El... OMIM:226960
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Abnormal metatarsal morphology, Anteverted nares, Short long bone, Aplasia/Hypopl... ORPHA:163654
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
2q37 monosomy
Brachydactyly DECIPHER:44
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Single transverse palmar crease, Camptodactyly, Short stature, Grow... OMIM:613604
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Metaphyseal ... OMIM:156400
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas... ORPHA:79140
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Renal hypoplasia/aplasia, Maternal diabetes, Long penis, ... ORPHA:1988
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Anterior hypopituitarism, Depressed nasal tip, Short stature, Camptodac... ORPHA:2863
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Craniosynostosis, Rhizomel... OMIM:166250
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Low hanging columella, Oligozoosper... OMIM:614813
Pierpont Syndrome
Short finger, Short nose, Deep palmar crease, Wide nose, Prominent fingertip pads, Short stature,... OMIM:602342
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Anteverted nares, Choanal atresia, Micrognathia, Severe s... ORPHA:2645
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Miller-Dieker Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Growth delay, Nephropathy ORPHA:531
Intellectual Developmental Disorder, Autosomal Recessive 74
Prominent nose, Wide nasal bridge, Brachydactyly OMIM:617169
Pallister-Hall-Like Syndrome
Short nose, Anterior hypopituitarism, Short ribs, Postaxial hand polydactyly, Micromelia, Short s... OMIM:241800
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Metaphyseal widening, Mesomelia, Brac... OMIM:612813
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Annular pancreas, Squamous cell carcinoma, Osteoporosis, Osteosarcoma, Cryp... OMIM:268400
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to... OMIM:206920
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Abnormal diaphysis... ORPHA:1842
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... ORPHA:289176
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,... OMIM:618870
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... ORPHA:1406
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormality of the kidney, Abnormal ilium morphology, Disproporti... ORPHA:2655
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, J... ORPHA:2249
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Anteverted nares, Prominent nose, Joint stiffness, Short stature,... ORPHA:2107
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Abnormal circulating pre... ORPHA:95699
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Depressed nasal ridge, Camptodactyly of finger, Depressed n... ORPHA:1529
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature, Delayed ossification of carpal bones, Mesomelia, Metap... OMIM:271510
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Coxa vara, Short palm, Severe short stature ORPHA:168555
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna... ORPHA:1514
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Temtamy Syndrome
Clinodactyly of the 5th finger, Micrognathia, Short toe, Brachydactyly, Joint hypermobility, Conv... ORPHA:1777
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Reduced bone mineral density, Genu valgum, Spina bifida occulta, Hypoplasia of penis,... ORPHA:2983
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Wide anterior ... OMIM:618853
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Bi... OMIM:136760
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s... OMIM:244600
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short ribs, Postaxial hand polydactyly, Acetabular spurs, Short stature, Brachydactyly, Trident a... OMIM:617405
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short nose, Carpal bone hypoplasia, Limited elbow extension, Small epiphyses, Cranios... OMIM:616723
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Micrognathia, Brachyd... ORPHA:444002
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, Anteverted nares, Abnormality of the ureter, Micromelia, Arachnodactyly,... ORPHA:1035
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Disproportionate short stature, Generalized bone demineralization, Flared met... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Short nose, Micrognathia, Anteverted nares ORPHA:2015
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Hypoplasia ... ORPHA:1295
Greenberg Dysplasia
Disproportionate short-limb short stature, Short long bone, Short ribs, Short metacarpal, Decreas... OMIM:215140
Acrofrontofacionasal Dysostosis
Hypospadias, Dimple on nasal tip, Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptod... ORPHA:1784
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Acrofacial Dysostosis, Catania Type
Hypospadias, Spina bifida occulta, Single transverse palmar crease, Short stature, Short palm, Mi... OMIM:101805
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synostosi... ORPHA:93258
14Q11.2 Microdeletion Syndrome
Short nose, Toe clinodactyly, Micrognathia, Toe syndactyly, Depressed nasal bridge ORPHA:261120
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Short stature... ORPHA:2377
Non-Distal Duplication 10Q
Short nose, Short stature, Micrognathia, Joint hypermobility, Convex nasal ridge, Abnormality of ... ORPHA:1695
C Syndrome
Short nose, Radial deviation of finger, Dislocated radial head, Anteverted nares, Renal cortical ... OMIM:211750
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Narrow nasal ridge, 2-3 toe syndactyly, Anteverted nares, Single ... OMIM:236500
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Short long bone, Short stature, Joint hypermobility, Adducted thumb, Advanced os... OMIM:620269
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Sho... ORPHA:1133
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Promi... ORPHA:401935
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Limitation of joint mobility, ... OMIM:151200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Clinodactyly, Micrognathia, Ulnar deviation of the wrist, Unilambdo... OMIM:618577
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Maternal diabetes, Small epiphyses, Flared metaphysis, Hypoplast... ORPHA:93346
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Elevated circulating luteinizing hormone... OMIM:305400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Disproportionate short-limb short stature, Metaphyseal cuppi... OMIM:250420
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Postnatal growth retardation, Elevated circulating parathyroid hormone level, Generalize... ORPHA:289157
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Subungu... OMIM:613254
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, Anteverted nares, Flared iliac wing, Coxa vara, Metaphyseal cuppin... OMIM:300232
Chung-Jansen Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Micrognathia, Hip dysplasia, Joint ... OMIM:617991
Achondrogenesis
Short nose, Abnormality of bone mineral density, Anteverted nares, Abnormal enchondral ossificati... ORPHA:932
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... OMIM:607095
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Short nose, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation, Depres... OMIM:616910
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower lim... ORPHA:56304
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Short phalanx of finger, Brachydactyly, Micropenis, Wide nasal bridge, Clinodactyly... OMIM:614684
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Narrow nasal br... OMIM:620073
Cooks Syndrome
Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly ORPHA:1487
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short long bone, Metaphyseal irregularity, Joint hypermobility, Central adrenal insufficiency, Hi... OMIM:616007
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Limitation of joint mob... ORPHA:2547
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Di... OMIM:602875
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Narrow nasal bridge, Increased bone mineral density, Bowing of th... ORPHA:1798
Baller-Gerold Syndrome
Osteosarcoma, Lymphoma ORPHA:1225
Carpenter Syndrome 1