Gene Summary

Name:
PR domain containing 14
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased total body fat amount Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.93×10-08
decreased bone mineral density Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.64×10-26
abnormal rib morphology Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 3.39×10-05
short tibia Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 6.46×10-09
abnormal bone structure Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 5.06×10-07
impaired glucose tolerance Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.00×10-06
increased total body fat amount Prdm14em1(IMPC)Bay HOM Early adult 7.03×10-11
abnormal eye anterior chamber depth Prdm14em1(IMPC)Bay HOM   Early adult 1.93×10-08
decreased lean body mass Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 5.75×10-05
preweaning lethality, incomplete penetrance Prdm14em1(IMPC)Bay HOM   Early adult 0.00
increased total body fat amount Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.33×10-12
increased effector memory T-helper cell number Prdm14tm1a(EUCOMM)Wtsi HOM   Early adult 1.09×10-07
decreased bone mineral content Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.57×10-16
decreased bone mineral density Prdm14em1(IMPC)Bay HOM Early adult 3.54×10-17
male infertility Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral density Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.17×10-22
decreased bone mineral content Prdm14em1(IMPC)Bay HOM Early adult 1.75×10-11
female infertility Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased respiratory quotient Prdm14tm1a(EUCOMM)Wtsi HOM   Early adult 4.91×10-05
decreased lean body mass Prdm14em1(IMPC)Bay HOM Early adult 1.43×10-07
abnormal bone structure Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-07
abnormal bone structure Prdm14em1(IMPC)Bay HOM Early adult 3.99×10-05
decreased lean body mass Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.24×10-09
hyperactivity Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-07
decreased bone mineral content Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 1.19×10-18

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Testis N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
uterus 0.36% (2 of 554)
vas deferens 4.18% (15 of 359)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of right eye

22 Images

X-ray

XRay Images Skull Lateral Orientation

31 Images

X-ray

XRay Images Forepaw

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

Eye Morphology

VIP of right fundus

22 Images

Histopathology

Images

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

31 Images

Eye Morphology

VIP of left eye

22 Images

Eye Morphology

VIP of left fundus

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

31 Images

Human diseases caused by Prdm14 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prdm14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
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
Oocyte Maturation Defect 8
Female infertility OMIM:619009
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
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
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
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
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
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
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 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity, Osteopenia, Micrognathia, Clinodactyly, Radial deviation of... OMIM:608747
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... OMIM:612310
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Generalized osteosclerosis, Abnormal cortical bone... ORPHA:2790
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis ORPHA:3268
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Slc35A2-Cdg
Talipes equinovarus, Craniosynostosis, Osteopenia, Camptodactyly of finger, Short tibia, Aplasia/... ORPHA:356961
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Gout, Osteoporosis, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Metatropic Dysplasia
Narrow chest, Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Lon... ORPHA:2635
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short ... OMIM:607143
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofaci... OMIM:122860
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... OMIM:601560
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Osteopenia, Primary amenorrhea, Impaired glucose tolerance OMIM:615363
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Decreased skull ossification, A... ORPHA:2097
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation OMIM:300434
Caffey Disease
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... OMIM:114000
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Missing ribs, Short thorax, L... ORPHA:1801
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial ossificatio... OMIM:259440
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Femoral hernia, Short thorax, Umbilical hernia, Abnormal e... ORPHA:93298
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Atelosteogenesis Type Iii
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... ORPHA:56305
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency OMIM:619518
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Hyperactivity, Small for gestational age, Micr... ORPHA:73272
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Toe syndactyly, Camptodactyly OMIM:258865
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... OMIM:609945
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Classic Galactosemia
Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Osteoporosis, Abnormal erythroc... ORPHA:79239
Ck Syndrome
Slender build, Hyperactivity, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnor... OMIM:300831
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies OMIM:307500
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Omodysplasia 1
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Micrognathia, S... OMIM:258315
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Femoral hernia, Short thorax, Umbilica... ORPHA:93299
Hyperparathyroidism, Transient Neonatal
Narrow chest, Osteopenia, Thin ribs, Short ribs OMIM:618188
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Omphalocele, Decreased skull... ORPHA:93267
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Eunuchoid habitus, Hypergonadotropic hypogon... ORPHA:91
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... OMIM:609441
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Limited elbow extension, Hyperosto... OMIM:604922
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... ORPHA:3035
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan... OMIM:609813
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Camptodactyly of finger, Abnormal ... ORPHA:1488
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... OMIM:615633
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, D... ORPHA:168549
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Diabetes mellitus, ... OMIM:614613
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnormal rib morpholo... ORPHA:93351
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... OMIM:227270
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari... OMIM:110100
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormal rib morphology, Hypogonadism, Obesity, Decreased fertility ORPHA:2234
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Failure to thrive i... ORPHA:436
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... OMIM:617925
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Abnormal rib morphology, Missing ribs, Short thorax, Block vertebrae, Vertebral fusion OMIM:613686
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Cone-shap... ORPHA:397973
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Hypoplasia of the capital femoral epiphysis, Abnor... ORPHA:239
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Thin ribs, Small for gestational age, Bell-shaped thorax, Absent ossificatio... OMIM:166210
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Recurrent fractures, Abnormal cortical bone morphology, Limitation of jo... ORPHA:1486
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... OMIM:600002
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... ORPHA:99429
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Diastrophic Dysplasia
Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of f... ORPHA:628
Metatropic Dysplasia
Narrow chest, Flexion contracture, Short ribs, Clavicular pseudarthrosis, Flaring of rib cage, Ar... OMIM:156530
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Osteolytic defects of the phalanges of the hand, Abnormal rib morp... ORPHA:2484
Congenital Disorder Of Glycosylation, Type Iig
Abnormal rib morphology, Osteopenia, Failure to thrive in infancy, Camptodactyly OMIM:611209
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Arthrogryposis multiplex congenita, Craniosynostosis OMIM:618265
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... OMIM:200600
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin ribs, Thin bony cortex, Joint laxity, Umbilical hernia, Joint hypermobi... OMIM:617952
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, I... OMIM:610915
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... OMIM:210720
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... OMIM:616229
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Pectus carinatum, Abnormal rib morphology, Limitation of joint mob... ORPHA:3068
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, Small for gestational age, T... OMIM:616897
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flaring... OMIM:612852
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Bone Marrow Failure Syndrome 3
Failure to thrive, Metaphyseal dysplasia, Hyperactivity, Reduced bone mineral density, Micrognath... OMIM:617052
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Cachexia, Abnormal rib morphology ORPHA:3242
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Short ribs, Elbow flexion contracture, Knee flexion contracture, Arthrogryposis ... ORPHA:1145
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Grayish enamel, Abnormal rib morphology, Hernia, ... ORPHA:582
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Inguinal hernia, Splenomegaly, Dense calvaria, Umbilical hernia OMIM:252900
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Thin clavicles, Calvarial osteosclerosis, ... ORPHA:93324
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Lipoatrophy, Pectus carinatum, Supernumerary ribs ORPHA:64755
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
X-Linked Intellectual Disability, Cabezas Type
Clinodactyly of the 5th finger, Hyperactivity, Inguinal hernia, Small hand, Cachexia, Camptodacty... ORPHA:85293
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs ORPHA:1797
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Dentinogenesis imperfecta, Thin ribs, Decreased calvarial ossification, Seve... OMIM:259420
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Azoospermia ORPHA:2578
Thoracolaryngopelvic Dysplasia
Slender build, Irregular chondrocostal junctions, Short ribs, Bell-shaped thorax, Horizontal ribs OMIM:187760
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Short ribs, Thin ribs, Decreased cranial base ossification OMIM:151210
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Cole-Carpenter Syndrome 2
Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynostosis, Osteopenia, Lam... OMIM:616294
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs OMIM:200610
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia ORPHA:2643
Dysosteosclerosis
Narrow chest, Sclerosis of skull base, Short sternum, Short ribs, Osteopenia, Clavicular sclerosi... OMIM:224300
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
White Forelock With Malformations
Sprengel anomaly, Joint hyperflexibility, Abnormal rib morphology ORPHA:2475
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Bell-shaped thorax, Abnormal rib morphology, H... ORPHA:2021
Osteogenesis Imperfecta, Type X
Narrow chest, Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Inguinal hernia, Os... OMIM:613848
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Pectus excavatum, Abnormal rib morphology ORPHA:2522
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... OMIM:228520
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down-sloping s... ORPHA:392
Prune Belly Syndrome
Abnormal rib morphology, Failure to thrive, Pectus excavatum, Decreased fertility ORPHA:2970
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Camptodactyly of finger, Synostosis of carpal bones, Tarsal synostosis ORPHA:1836
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Antley-Bixler Syndrome
Narrow chest, Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Camptodact... ORPHA:83
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Abnormal r... ORPHA:2311
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Arthritis, Vertebral... ORPHA:89936
Greenberg Dysplasia
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Fractured rib, Thora... OMIM:215140
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Azoospermia, Abnormal rib morphology OMIM:601076
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Obesity, Abnormal dental enamel morphology, Abnormal rib morphology ORPHA:2180
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary ... ORPHA:958
3M Syndrome
Enlarged thorax, Thin ribs, Horizontal ribs, Short thorax, Scapular winging, Joint hyperflexibili... ORPHA:2616
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Bowing of limbs due to multiple fractures, Thin ribs, Joint hypermobility OMIM:615220
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Arachnodactyly, Pes planus, Attention deficit hyperactivity disorde... OMIM:617600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abn... ORPHA:249
Otopalatodigital Syndrome Type 2
Carpal synostosis, Failure to thrive, Increased bone mineral density, Flared iliac wing, Abnormal... ORPHA:90652
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Dense calvaria, Splenomegaly OMIM:252920
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal bone ossification, Thin ribs, Abnormal thorax morphology, Generalized bone... ORPHA:73230
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... OMIM:260660
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Splenomegaly, Dense calvaria, Hernia OMIM:252930
Sclerosteosis 1
Cortically dense long tubular bones, Irregular menstruation, Broad clavicles, Facial palsy second... OMIM:269500
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Failure to thrive, Lipoatrophy, Flexion contracture, Thin ribs, Osteoporosis, Li... OMIM:614008
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Joint hyperflexibility, Missing ribs ORPHA:2759
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Osteopenia, Loss of t... ORPHA:2463
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... OMIM:114290
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Osteoporosis, Abnorma... ORPHA:1452
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Fanconi Anemia, Complementation Group A
Neutropenia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short thumb... OMIM:227650
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Tibial Hemimelia
Absent tibia OMIM:275220
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Oligo... ORPHA:572333
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Minimal subcutaneous fat, Joint contracture of the hand, Thin ribs, Craniosynos... OMIM:182212
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Hernia of the abdominal wall, Pectus carinatum ORPHA:3082
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... ORPHA:254534
Mucopolysaccharidosis, Type Ivb
Prominent sternum, Inguinal hernia, Osteoporosis, Grayish enamel, Flaring of rib cage, Joint laxity OMIM:253010
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydac... OMIM:200980
Holzgreve Syndrome
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae ORPHA:2167
Pyknoachondrogenesis
Sclerosis of skull base, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Horizontal ribs,... ORPHA:3003
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Rib fusion, Vertebral fusion OMIM:277300
Severe Congenital Nemaline Myopathy
Thin ribs, Flexion contracture, Increased connective tissue, Abnormal thorax morphology, Arthrogr... ORPHA:171430
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling OMIM:609616
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Flexion contracture, Small for gestational age OMIM:615368
Mucopolysaccharidosis, Type Iva
Prominent sternum, Inguinal hernia, Osteoporosis, Pectus carinatum, Grayish enamel, Flaring of ri... OMIM:253000
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Craniosynostosis, Increased density of long b... OMIM:305620
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture of finger, Pectus excavatum, Prominent sternum, Flexion contracture, Inguinal... ORPHA:254528
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight, Flexion contracture OMIM:614833
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Apla... OMIM:276820
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Failure to thrive, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility ... OMIM:151050
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... ORPHA:99413
Turner Syndrome
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... ORPHA:881
Mosaic Monosomy X
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... ORPHA:99228
Monosomy X
Enlarged thorax, Female infertility, Pectus excavatum, Short sternum, Reduced bone mineral densit... ORPHA:99226
Bloom Syndrome
Abdominal obesity, Abnormal proportion of CD8-positive T cells, Small for gestational age, Microg... ORPHA:125
Occipital Horn Syndrome
Narrow chest, Short clavicles, Pectus excavatum, Hiatus hernia, Osteoporosis, Limited elbow exten... OMIM:304150
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae ORPHA:1318
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal vertebral se... OMIM:118100
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Trisomy 13
Narrow chest, Hernia, Abnormal rib morphology ORPHA:3378
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Midline central nervous system lipomas, Pat... ORPHA:1827
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Horizontal ribs, Inguinal hernia, Bell-shaped thorax OMIM:614857
Poland Syndrome
Sprengel anomaly, Abnormal sternum morphology, Asymmetry of the thorax, Congenital diaphragmatic ... ORPHA:2911
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Abnormal rib morphology, Missing ribs, Increased suscepti... ORPHA:2769
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Abnormal rib morphology, Short thorax, ... ORPHA:261344
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Thin ribs, Flexion contracture, Anterior rib cupping, Thoracic kyphosis OMIM:300232
Gracile Bone Dysplasia
Failure to thrive, Decreased skull ossification, Thin ribs OMIM:602361
Cartilage-Hair Hypoplasia
Narrow chest, Failure to thrive, Abnormal bone ossification, Abnormally ossified vertebrae, Pectu... ORPHA:175
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Broad ribs OMIM:269300
Schwartz-Jampel Syndrome
Sprengel anomaly, Joint stiffness, Hip contracture, Pectus excavatum, Decreased body weight, Incr... ORPHA:800
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae ORPHA:3301
Juberg-Hayward Syndrome
Abnormal rib morphology, Radioulnar synostosis ORPHA:2319
Kagami-Ogata Syndrome
Thin ribs, Long clavicles, Flexion contracture, Inguinal hernia, Bell-shaped thorax, Omphalocele OMIM:608149
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia ORPHA:93941
Meier-Gorlin Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Abnormal rib cage morpholo... OMIM:224690
Cenani-Lenz Syndrome
Synostosis of carpal bones, Synostosis of joints, Abnormal rib morphology, Radioulnar synostosis,... ORPHA:3258
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Inguinal hernia, Short ribs, Short humerus, Brachydact...