Gene Summary

Name:
polycomb group ring finger 2
Synonyms:
Mel18,  Zfp144,  Rnf110,  mel-18

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
increased bone mineral content Pcgf2tm1b(KOMP)Mbp HET Early adult 7.14×10-05
abnormal spleen morphology Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal lumbar vertebrae morphology Pcgf2tm1b(KOMP)Mbp HET   Early adult 2.67×10-05
small testis Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
small spleen Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal testis morphology Pcgf2tm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pcgf2tm1b(KOMP)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Aorta  Wholemount images  Section images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Section images heterozygote 25% (1 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Section images heterozygote 75% (3 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 100% (4 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 50% (2 of 4)
Eye  Wholemount images  Section images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 25% (1 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Section images heterozygote 100% (4 of 4)
Jejunum  Section images heterozygote 25% (1 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Pancreas  Wholemount images  Section images heterozygote 75% (3 of 4)
Parotid gland  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Skin  Section images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images  Section images heterozygote 50% (2 of 4)
Spleen  Wholemount images  Section images heterozygote 50% (2 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 50% (2 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Tongue  Wholemount images  Section images heterozygote 50% (2 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 25% (1 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

114 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

35 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Pcgf2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pcgf2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Turnpenny-Fry Syndrome
Short sternum, Tapered finger, Small hand, Pectus carinatum, Wide anterior fontanel, Clinodactyly... OMIM:618371

The table below shows human diseases predicted to be associated to Pcgf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Disprop... OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Short stature, Block vertebrae, Death in infancy, Vertebral segmenta... OMIM:277300
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the elbow, Clinodactyly of the 5th finger, Radio... ORPHA:3268
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... OMIM:173800
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Irregular capital femoral epiphys... OMIM:609052
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Disproportionate ... ORPHA:1354
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Vertebral segmentation defect, Hip dys... ORPHA:1988
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notc... OMIM:156530
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Flat acetabular roof, Missing ribs, Limitation of joint mobil... ORPHA:1801
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... ORPHA:64755
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... ORPHA:2635
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Short stature, Vertebral segm... ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Vertebral seg... OMIM:613686
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... OMIM:618728
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Short stature, Abnormal vertebral morph... ORPHA:163665
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Severe short stature, Platys... ORPHA:168555
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Short stature, Vertebral segmentation defect, Abnormality of the humerus... ORPHA:1836
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... ORPHA:40
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... OMIM:259440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... ORPHA:93351
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... ORPHA:168549
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... OMIM:609616
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Coxa vara, Short femoral neck, Thoracic hypoplasia, Rhizomelia, Short statu... OMIM:602271
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Brachy... OMIM:187601
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:615214
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short stature, Short ribs, Death in infancy, Narrow chest, Postaxial foot polyda... OMIM:617405
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... OMIM:271650
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Congenital Disorder Of Glycosylation, Type Iig
Butterfly vertebrae, Camptodactyly, Short neck, Posterior rib gap, Postnatal growth retardation, ... OMIM:611209
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... OMIM:187760
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... OMIM:184400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Shor... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... OMIM:608728
Cerebrofaciothoracic Dysplasia
Bifid ribs, Short stature, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, S... ORPHA:1394
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... OMIM:607271
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... OMIM:313400
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Elbow dislocation, Hypoplastic cervical ... ORPHA:628
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... OMIM:184250
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short stature, Abnormality of the elbow, Slender long bone, Abnormal cortica... ORPHA:1486
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:312863
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... ORPHA:2319
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck, Short stature ORPHA:2578
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Short neck, Abnormal clavicle morphology, Proximal placement of thumb, ... ORPHA:93267
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... OMIM:615220
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Spondylometaphyseal Dysplasia, Kozlowski Type
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, Ir... OMIM:184252
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... OMIM:271520
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemiver... ORPHA:2234
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Short stature, Short ribs, N... ORPHA:2021
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... OMIM:102510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Pectus excavatum, Short neck, A... ORPHA:2522
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... OMIM:228520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Metaphyseal cupping, Pear-... OMIM:602111
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Schneckenbecken Dysplasia
Metaphyseal irregularity, Dumbbell-shaped long bone, Anterior rib cupping, Advanced ossification ... OMIM:269250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Short stature, Metaphy... OMIM:300863
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Pectus excavatum, Dislocated radial head, Short neck, Radial devi... OMIM:268310
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp... ORPHA:2990
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Short stature, Diaphyseal thickening ORPHA:1513
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis OMIM:614688
Osteogenesis Imperfecta, Type Viii
Femoral retroversion, Multiple prenatal fractures, Recurrent fractures, Disproportionate short-li... OMIM:610915
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Abnormal pelvic girdle bone morpholog... ORPHA:1803
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Short stature, Toe syndactyly, Narrow chest, Abnormal ... ORPHA:474
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... ORPHA:85184
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... ORPHA:2484
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Wide anterior fon... ORPHA:2347
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Tibial bowing,... OMIM:166210
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Myotonia With Skeletal Abnormalities And Mental Retardation
Bell-shaped thorax, Genu valgum, Short stature, Vertebral wedging, Kyphoscoliosis, Irregular femo... OMIM:255710
Kbg Syndrome
Vertebral arch anomaly, Vertebral fusion, Short stature, Thoracic kyphosis, Clinodactyly of the 5... OMIM:148050
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Mucopolysaccharidosis Type 4
Hyperlordosis, Genu valgum, Short thorax, Coxa valga, Pectus carinatum, Kyphosis, Short stature, ... ORPHA:582
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Disproportionate short stature, Sev... ORPHA:93298
Cog1-Cdg
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Flat acetabular roof, But... ORPHA:263508
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... ORPHA:392
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Short stature, Supernumerary ribs, Missing ribs, Butterfl... OMIM:206900
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis ORPHA:261197
Three M Syndrome 1
Hyperlordosis, Short thorax, Increased vertebral height, Short 5th finger, Short stature, Short r... OMIM:273750
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... OMIM:187600
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Angulated humerus, Short long bone, Rhizomelia, Multiple rib fractures, Shor... OMIM:616229
Grant Syndrome
Joint dislocation, Short stature, Narrow chest, Abnormal cortical bone morphology, Abnormality of... ORPHA:2097
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Rhizomelia, S... ORPHA:163966
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Short statu... OMIM:213980
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... OMIM:253000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absence of lymph node... ORPHA:277
3M Syndrome
Horizontal ribs, Enlarged thorax, Short neck, Scapular winging, Abnormal metaphysis morphology, R... ORPHA:2616
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... ORPHA:444463
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Short stature, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal... OMIM:122860
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Cole-Carpenter Syndrome
Crumpled long bones, Recurrent fractures, Kyphosis, Short stature, Wormian bones, Scoliosis, Join... ORPHA:2050
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Coxa valga, Recurrent fractures, Coxa vara, Joint hypermobility, Bowing of th... OMIM:619131
Achondrogenesis, Type Ii
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... OMIM:200610
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Femoral retroversion, Pectus excavatum, Multiple prenatal fractur... OMIM:610682
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasi... ORPHA:3082
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Coxa valga, Broad ribs, Wide anterior fontanel, Short stature, Flared me... OMIM:269300
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Disproportionate short-... OMIM:200600
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Butterfly vertebrae, Radioulnar synostosis, Ulnar d... ORPHA:2876
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... OMIM:250420
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... OMIM:134780
Mucolipidosis Iii Gamma
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... OMIM:252605
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Sandal gap, Scoliosis, Brachydactyly, Abnormal rib morphology, Hemivertebrae, A... ORPHA:2180
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Elbow dislocation, Short neck, Sacral ... ORPHA:1507
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Pallister-Hall Syndrome
Mesoaxial foot polydactyly, Neonatal death, Short 4th metacarpal, Radial head subluxation, Short ... OMIM:146510
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central promine... OMIM:300232
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... OMIM:184253
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... OMIM:301082
Dysosteosclerosis
Short diaphyses, Delayed closure of the anterior fontanelle, Sclerotic scapulae, Hypoplastic vert... OMIM:224300
Achondrogenesis Type 1A
Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification, Multiple rib fra... ORPHA:93299
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Clinodactyly of the 5th finger, Joint hyperflexibility, Arachnodactyly, Abnormal ri... ORPHA:2759
Aicardi Syndrome
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Butterf... ORPHA:50
Cooper-Jabs Syndrome
Camptodactyly of finger, Short stature, Missing ribs, Scoliosis, Proximal placement of thumb, Joi... ORPHA:1488
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Joint ... ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Delayed epi... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Delayed epiphyseal ossification, Verteb... OMIM:602557
Cole-Carpenter Syndrome 2
Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis, Pectus excavatum, Wormian... OMIM:616294
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Aicardi Syndrome
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... OMIM:304050
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Short femur, Fibular bowing, Genu valgum, Generalized join... OMIM:613848
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... OMIM:618108
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Spatulate ribs, Scoliosis, Irregular ... OMIM:619698
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibula morphology,... ORPHA:3035
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... ORPHA:457083
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... OMIM:617952
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Ovoid ve... OMIM:618019
Saul-Wilson Syndrome
Irregular vertebral endplates, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epi... OMIM:618150
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Intrauterine growth retardation, Abnormal pelvic gird... ORPHA:1506
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Triangular shape... ORPHA:73230
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Abnormality of the vertebral column, Sprengel anomaly, Short stature OMIM:601076
Baller-Gerold Syndrome
Absent thumb, Aplasia of metacarpal bones, Short humerus, Aphalangy of the hands, Spina bifida oc... OMIM:218600
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Wolf-Hirschhorn Syndrome
Sacral dimple, Preaxial hand polydactyly, Kyphosis, Hypoplastic pubic rami, Abnormal thorax morph... ORPHA:280
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Three M Syndrome 2
Hyperlordosis, Short thorax, Short 5th finger, Short stature, Lumbar hyperlordosis, Slender long ... OMIM:612921
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Rhizo-meso-acromelic limb shor... OMIM:611717
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... ORPHA:93324
Desbuquois Dysplasia 2
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Hip dislocation, Pect... OMIM:615777
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Constricted iliac wing, Ovoid vert... OMIM:253010
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... OMIM:619767
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Hip dysplasia, Broad hallux, Wormian bones, Short neck, Growth delay, Nar... OMIM:614541
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Bent Bone Dysplasia Syndrome 2
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Death in infancy, Vertebral segmentation defect, ... ORPHA:1120
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Hemochromatosis, Type 1
Cirrhosis, Impotence, Hepatocellular carcinoma, Azoospermia, Osteoporosis, Testicular atrophy, Di... OMIM:235200
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Butterfly vertebrae, Hip... ORPHA:958
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Short stature, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Limitati... ORPHA:3068
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature ORPHA:195
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Epiphyseal streaking, Delayed closure of the anterior font... OMIM:604922
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Clinodactyly of the 5th finger, Rib fusion ORPHA:544488
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intr... ORPHA:2643
Holzgreve Syndrome
Abnormal metacarpal morphology, Hand polydactyly, Joint stiffness, Abnormal morphology of ulna, A... ORPHA:2167
X-Linked Hypophosphatemia
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... ORPHA:89936
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Acromesomelic Dysplasia 4
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... OMIM:619636
Cleidocranial Dysplasia
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Genu va... ORPHA:1452
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Cervical ribs, Short neck, Abnormality of the odontoid process, Proportionate s... OMIM:609654
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Shawl scrotum, Decreased testicular size, Microphallus, Adr... OMIM:617053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, S... OMIM:616897
Mucolipidosis Iii Alpha/Beta
Short stature, Short ribs, Short long bone, Craniosynostosis, Irregular carpal bones, Carpal bone... OMIM:252600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies, Abnormal metaphy... ORPHA:583
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Severe short stature, S... OMIM:230500
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... ORPHA:1145
Wolf-Hirschhorn Syndrome
Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossification, Pseudoepiphyse... OMIM:194190
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Ovoid vertebral bodies, Narrow greater sciatic notch, Metaphyseal irregu... ORPHA:85167
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Hypophosphatasia, Infantile
Vertebral clefting, Increased susceptibility to fractures, Metaphyseal cupping, Short ribs, Death... OMIM:241500
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Death in infancy, Wide anterior fontanel, Shortenin... OMIM:619135
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Joint hyperflexibility, Decreased... ORPHA:2772
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelic arm shortening, Iliac crest serration, Short metacarpal, Narrow chest, Disproportionat... ORPHA:93317
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Vertebral segmentation defect, Missing ribs, Abnormal pel... ORPHA:1834
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Hypophosphatasia
Recurrent fractures, Short stature, Narrow chest, Abnormal rib morphology, Abnormal metaphysis mo... ORPHA:436
Zttk Syndrome
Flexion contracture, Small hand, Kyphosis, Short stature, Cervical ribs, Joint hypermobility, Rib... OMIM:617140
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Pseudoepiphyses, Short stature, Fused cervical vertebrae, Carpal s... OMIM:157800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:600081
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Kyphomelic Dysplasia
Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,... OMIM:211350
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Robinow Syndrome
Bifid distal phalanx of the thumb, Radioulnar dislocation, Short stature, Missing ribs, Syndactyl... ORPHA:97360
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness OMIM:252900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... OMIM:250220
Campomelia, Cumming Type
Death in infancy, Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morph... ORPHA:1318
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... OMIM:617780
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... ORPHA:35078
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... ORPHA:2769
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Short foot, Calvarial ost... OMIM:244460
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Split hand, Brachydactyly, Abnormal rib morphology, Craniosynos... ORPHA:2145
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Opsismodysplasia
Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short pa... OMIM:258480
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... OMIM:271640
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252920
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Absent pubertal growth spurt, Metaphyseal cupping, Coxa vara, Prominent st... OMIM:250250
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... ORPHA:2970
Cartilage-Hair Hypoplasia
Abnormal distal phalanx morphology of finger, Short neck, Metaphyseal chondrodysplasia, Limited e... ORPHA:175
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... OMIM:252930
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Joint swelling, Fla... OMIM:612852
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... OMIM:305620
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Pyknoachondrogenesis
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... ORPHA:3003
Short Rib-Polydactyly Syndrome
Horizontal ribs, Polydactyly, Absent or minimally ossified vertebral bodies, Short tibia, Thoraci... ORPHA:1505
Cantú Syndrome
Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Short hallux, Short neck, Ovoid ve... ORPHA:1517
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Cone-shaped epiphysis, Thoracic hypoplasia, Short stature, Short ribs, Short lon... OMIM:613091
Mosaic Trisomy 8
Camptodactyly of finger, Patellar aplasia, Short stature, Narrow chest, Vertebral segmentation de... ORPHA:96061
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteolysis, Abnormal rib morphology, Fibrous dysplasia of the bones, Osteomalac... ORPHA:249
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis, Decreased skull ossification OMIM:602361
Hurler Syndrome
Camptodactyly of finger, Abnormality of the elbow, Short stature, Death in infancy, Narrow pelvis... ORPHA:93473
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Radio-Renal Syndrome
Abnormality of the elbow, Hypoplasia of the radius, Severe short stature, Short neck, Brachydacty... ORPHA:3015
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Renpenning Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal thumb morphology, Severe short stature... ORPHA:3242
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:241530
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... ORPHA:3320
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... ORPHA:572
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs... OMIM:224690
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... OMIM:186500
Alagille Syndrome
Butterfly vertebral arch, Vertebral segmentation defect, Clinodactyly of the 5th finger, Hypoplas... ORPHA:52
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... OMIM:260400
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Short stature, ... OMIM:253220
Trisomy 13
Kyphosis, Narrow chest, Abnormal pelvic girdle bone morphology, Postaxial hand polydactyly, Scoli... ORPHA:3378
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Pectus carinatum, Wide anterior fontanel, Joint contracture of the hand, Supernumera... OMIM:182212
1P36 Deletion Syndrome
11 pairs of ribs, Bifid ribs, Camptodactyly of finger, Delayed cranial suture closure, Kyphosis, ... ORPHA:1606
Immunodeficiency With Hyper-Igm, Type 1
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decreased circulat... OMIM:308230
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dy... ORPHA:465508
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Mucopolysaccharidosis, Type Vi
Flexion contracture, Hypoplastic acetabulae, Flared iliac wing, Anterior wedging of L2, Ovoid ver... OMIM:253200
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Scapular winging OMIM:619122
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:264700
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Foot polydactyly, Elbow flexion contracture, Missin... OMIM:200980
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Enlargement of the costochondral junctio... ORPHA:289157
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Bifid ribs, Delayed closure of the anterior fontanelle... OMIM:607872
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Sho... OMIM:617925
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... OMIM:601559
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Syn... OMIM:617895
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sagittal craniosynostosis, Absent thumb, Slender long bone, Intrauterine growth retardation, Meto... ORPHA:500150
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Broad clavicles, Sclerotic... OMIM:269500
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Coxa valga, Increased bone mineral density, Pectus ... ORPHA:800
Campomelic Dysplasia
Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Hip dislocation, Tracheomalacia, Met... OMIM:114290
Basal Cell Nevus Syndrome 1
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... OMIM:109400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostos... OMIM:618265
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ... ORPHA:2215
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camp... ORPHA:95699
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Occipital Horn Syndrome
Genu valgum, Coxa valga, Kyphosis, Capitate-hamate fusion, Broad clavicles, Narrow chest, Short h... OMIM:304150
Bone Marrow Failure Syndrome 5
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defect, Abnormal sacrum morp... ORPHA:887
Lethal Congenital Contracture Syndrome 10
Stiff neck, Short long bone, Femoral bowing, Adducted thumb, Short neck, Overlapping fingers, Nar... OMIM:617022
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Flexion contracture, Coxa valga, Thoracic hypoplasia, Epiphyseal stippling, Camptoda... ORPHA:96334
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Osteogenesis Imperfecta
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... ORPHA:666
Xylt1-Cdg
Joint dislocation, Coxa valga, Short femoral neck, Short stature, Short long bone, Clinodactyly, ... ORPHA:370930
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe, Postaxial hand polydactyl... ORPHA:672
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Otopalatodigital Syndrome, Type Ii
Delayed closure of the anterior fontanelle, Toe syndactyly, Elbow contracture, Pectus excavatum, ... OMIM:304120
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Flared iliac wing, Synosto... ORPHA:90652
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Popliteal pterygium, Split hand, Scoliosis, Abnormal rib morph... ORPHA:1300
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Narrow chest, Elbow... ORPHA:83
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... OMIM:600920
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, ... ORPHA:3301
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Short stature, Long hallux, Narrow pelvis bone, Flat acetabu... OMIM:600002
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Cervical... OMIM:119600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short stature, Supernumerary ribs, Short femur, Hypoplasia of the ulna... OMIM:612447
Weill-Marchesani Syndrome 1
Thin bony cortex, Broad phalanges of the hand, Short stature, Spinal canal stenosis, Broad metata... OMIM:277600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Joint hypermobility, Pec... ORPHA:2463
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Kagami-Ogata Syndrome
Bell-shaped thorax, Flexion contracture, Coxa valga, Kyphoscoliosis, Long clavicles, Long fingers... OMIM:608149
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Short st... OMIM:614008
Aarskog-Scott Syndrome
Shawl scrotum, Hypoplasia of the odontoid process, Bilateral cryptorchidism, Decreased serum test... OMIM:305400
Ellis-Van Creveld Syndrome
Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l... OMIM:225500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short... OMIM:208500
Myhre Syndrome
Large iliac wing, Craniofacial hyperostosis, Intrauterine growth retardation, Joint stiffness, Br... ORPHA:2588
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Aspergillosis
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone m... ORPHA:1163
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs,... OMIM:263520
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Short toe, Neonatal death, Short thorax, Short foot, Short ribs, Bowing of the a... OMIM:269860
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Flexion contracture, Short stature, Thin ribs OMIM:614833
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Neonatal death, Butterfly vertebrae OMIM:265380
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Bell-shaped thorax, Coxa valga, Thoracic hypoplasia, Limitation of join... ORPHA:254519
Camptodactyly Syndrome, Guadalajara Type 3
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... ORPHA:488434
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Short stature, Hip dysplasia, Elbow flexion contra... OMIM:252940
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Pr...