Gene Summary

Name:
gastrokine 2
Synonyms:
Bricd1b,  1810036H07Rik

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
decreased fasting circulating glucose level Gkn2tm1.1(KOMP)Vlcg HOM Early adult 8.29×10-05
enlarged heart Gkn2tm1.1(KOMP)Vlcg HOM Early adult 0.00
brachydactyly Gkn2tm1.1(KOMP)Vlcg HOM Early adult 1.49×10-05
decreased mean corpuscular volume Gkn2tm1.1(KOMP)Vlcg HOM   Early adult 8.26×10-08
increased lean body mass Gkn2tm1.1(KOMP)Vlcg HOM Early adult 1.82×10-05
decreased brain weight Gkn2tm1.1(KOMP)Vlcg HOM   Early adult 2.40×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 66.67% (2 of 3)
Stomach  Wholemount images  Section images heterozygote 100% (3 of 3)
Testis  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 33.33% (1 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 33.33% (1 of 3)
Jejunum N/A heterozygote 33.33% (1 of 3)
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Gkn2 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 Gkn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... OMIM:618108
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Malabsorption, Arthri... OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... ORPHA:2494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Clinodactyly of the 2nd toe, Type A2 brachydactyly, Diabetes... OMIM:211369
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Cleidorhizomelic Syndrome
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... ORPHA:1453
Gombo Syndrome
Radial deviation of finger, Abnormal heart morphology, Clinodactyly, Brachydactyly OMIM:233270
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... OMIM:613502
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Decreased circulating IgG le... OMIM:608809
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Long-Thumb Brachydactyly Syndrome
Long thumb, Brachydactyly, Short finger OMIM:112430
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Villous atrophy, Recurrent proto... OMIM:209920
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... OMIM:112800
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Abnormality of the metacarpal bones, Type A brachydactyly ORPHA:1078
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... OMIM:611702
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function... ORPHA:572
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly ORPHA:3314
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Eczema, Tubuloint... ORPHA:37042
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... ORPHA:52056
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Recurrent respiratory infection... ORPHA:2575
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... OMIM:610140
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... ORPHA:3237
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Ethanolaminosis
Cardiomegaly OMIM:227150
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... OMIM:608184
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... ORPHA:391646
Eng-Strom Syndrome
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... ORPHA:1937
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decrea... OMIM:619381
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea, Hematochezia ORPHA:160148
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen... ORPHA:331235
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... OMIM:308230
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... OMIM:113450
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Brachydactyly, Metaphyseal sclerosi... OMIM:609052
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... OMIM:613496
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Hypochondroplasia
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... OMIM:146000
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, B lymphocytopenia, Erythroderma, Pneumonia, Recu... OMIM:603554
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th fin... OMIM:604381
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Tetrasomy X
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly, Radioulnar synostosis ORPHA:9
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Anauxetic Dysplasia 1
Small epiphyses, Short finger, Rhizomelia, Delayed ossification of carpal bones, Short toe, Flare... OMIM:607095
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... OMIM:185700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Hepatosplenomegaly, Recurrent respiratory infections, ... OMIM:606367
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerostomia, Arthriti... ORPHA:809
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastritis, ... ORPHA:227990
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent opportunistic infec... ORPHA:277
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Keratoconjunctivitis sicca, Tubulointerstitial ... ORPHA:227982
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio... OMIM:147060
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... OMIM:616005
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pgm3-Cdg
Lactose intolerance, Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antib... ORPHA:443811
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Triphalangeal thumb, Increased mean corpuscular vol... OMIM:612561
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Syndromic Diarrhea
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Hypoplasia of t... ORPHA:84064
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Obes... ORPHA:79445
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:614257
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormal cardiac septum morphology, ... ORPHA:2370
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Brachydactyly, Delayed ossification of carpal b... OMIM:618392
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Craniosynostosis 3
Hallux valgus, Brachydactyly, Single transverse palmar crease OMIM:615314
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand ORPHA:1487
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... OMIM:102700
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly ORPHA:3303
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... ORPHA:1927
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Acute lymphobl... ORPHA:486
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Brachydactyly, Abnormal mitral valve morphology ORPHA:1919
Peripheral Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
2q37 monosomy
Brachydactyly DECIPHER:44
Heart-Hand Syndrome Type 3
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe ORPHA:1342
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Atrial septal defect, Type E brachydactyly OMIM:113301
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly ORPHA:444051
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent opportunistic infections, L... ORPHA:35078
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infection... OMIM:614493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... OMIM:193530
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Reynolds Syndrome
Keratoconjunctivitis sicca, Dysphagia, Infectious encephalitis, Abnormal gastric mucosa morpholog... ORPHA:779
Achondroplasia
Genu varum, Bowing of the legs, Rhizomelia, Flared metaphysis, Limited elbow extension, Trident h... OMIM:100800
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Short Stature-Obesity Syndrome
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Micromelia, Brachydactyly OMIM:269870
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Impaire... OMIM:613179
Chromosome 15Q26-Qter Deletion Syndrome
Short middle phalanx of finger, Small for gestational age, Talipes equinovarus, Failure to thrive... OMIM:612626
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Psoriasiform dermatitis, Decreased circulating IgA level, Recurrent viral upper... OMIM:615577
Immunodeficiency 23
Eczema, High palate, Eosinophilia, Neutropenia, Allergic rhinitis, Bronchiectasis, Severe varicel... OMIM:615816
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Brachydactyly ORPHA:168796
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Oslam Syndrome
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... ORPHA:2760
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Obesity, Finger syndactyly, Genu valgum, Brachy... ORPHA:65759
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle... ORPHA:2928
Isolated Brachycephaly
Brachydactyly, Metacarpal synostosis ORPHA:35099
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Summitt Syndrome
Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Obesity, Clinodactyly of the... ORPHA:3210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short... OMIM:609616
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Hyperglycemia, Truncal obesity, Syndactyly, Postaxial foot po... OMIM:615986
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... OMIM:113000
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Triphalangeal thumb, Brachydactyly OMIM:124480
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Thrombocytopenia, Clinodactyly, Brachydactyly OMIM:618048
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Sillence Syndrome
Broad metatarsal, Metatarsus adductus, Short middle phalanx of finger, Large tarsal bones, Chess-... ORPHA:3168
Keipert Syndrome
Broad distal phalanx of finger, Broad hallux, Broad thumb, Clinodactyly, Brachydactyly OMIM:301026
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Megaloblastic anemia, Gastritis, Recurrent pneumonia, Exoc... OMIM:219721
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... OMIM:250215
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... OMIM:233710
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand polydactyly, Bra... ORPHA:1278
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short 5th metacarpal, Short digit, Clinodactyly of the 5th finger, Abnorma... ORPHA:228190
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... OMIM:601560
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... OMIM:300244
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... OMIM:251450
Whim Syndrome
Recurrent bacterial infections, Sepsis, Sinusitis, Abnormality of the small intestine, Neutropeni... ORPHA:51636
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... ORPHA:1406
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... OMIM:233690
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Cutaneous... OMIM:601005
Acrocephalopolydactyly
Limb undergrowth, Hepatosplenomegaly, Short long bone, Brachydactyly ORPHA:221054
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Talipes equinovarus,... OMIM:211920
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating antibody level, Decreased circulating total IgM, Diarrhea, B lymphocytopeni... ORPHA:221139
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Clinodactyly, Brachydactyly, Tapered finger OMIM:617061
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Glucose intolerance, Impaired glucose tolerance, Genu va... OMIM:615630
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Abnormal femoral head morphology, Abnormality of the wrist, Protrusio ace... ORPHA:2619
Muenke Syndrome
Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, ... OMIM:602849
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed epiphyseal ossif... ORPHA:166016
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... OMIM:106990
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged interphalangeal joints, Short metacarpa... OMIM:151200
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Otitis media, Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Tapered finger, Short finger, Failure to thrive, Short toe, Brachydactyly OMIM:610680
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Failure to thrive, Endocardial fibroelas... OMIM:212140
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Orofaciodigital Syndrome Vi
Toe syndactyly, Postaxial polydactyly, Failure to thrive, Radial deviation of finger, Brachydacty... OMIM:277170
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Eosinophilia, Noncompac... OMIM:616651
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hypoglycemia, Cardiomegaly OMIM:618838
Laurence-Moon Syndrome
Type II diabetes mellitus, Finger syndactyly, Bilateral single transverse palmar creases, Hand po... ORPHA:2377
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
Immunodeficiency 58
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... OMIM:618131
11Q22.2Q22.3 Microdeletion Syndrome
Small hand, Bilateral single transverse palmar creases, Short foot, Obesity, Clinodactyly of the ... ORPHA:444002
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopeni... ORPHA:811
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Type II diabetes mellitus, Brachydactyly ORPHA:1436
Multiple Synostoses Syndrome 2
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... OMIM:610017
Brachydactyly, Type E2
Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... ORPHA:2831
Wiskott-Aldrich Syndrome, Autosomal Dominant
Hemolytic anemia, Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, In... OMIM:600903
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Tibial deviation... ORPHA:363417
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhizomelia, P... ORPHA:3098
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... ORPHA:48435
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubitus valgus, Co... OMIM:617396
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly OMIM:614684
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large int... OMIM:301000
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Arachnodactyly, Short thumb, Syndactyly, Decreased body weight, Cl... OMIM:600325
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short foot, Short metacarpal, Short toe, Brachydactyly OMIM:614078
Leri Pleonosteosis
Abnormality of epiphysis morphology, Cubitus valgus, Abnormality of the metaphysis, Abnormality o... ORPHA:2900
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short finger, Short proximal phalanx of finger, Short metacarpal, Short toe, Brachydactyly OMIM:191482
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Brachydactyly, Acromesomelia ORPHA:40
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Abruzzo-Erickson Syndrome
Toe syndactyly, Ulnar deviation of finger, Atrial septal defect, Short toe, Brachydactyly, Radiou... ORPHA:921
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Abnormality of finger, Abnormality of the wrist, Abnormal thumb morphology... ORPHA:2511
Ethylene Glycol Poisoning
Gastritis, Vomiting, Nausea ORPHA:31826
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Chronic oral candidiasis, Recurrent otitis media, Re... OMIM:608233
Vici Syndrome
Recurrent bacterial infections, Cleft palate, Recurrent fungal infections, Decreased circulating ... OMIM:242840
Roifman Syndrome
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Broad femoral head, Noncompaction... ORPHA:353298
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Ulnar deviation of finger, Synostosis of carpal bones, Genu valg... ORPHA:2496
Odontotrichoungual-Digital-Palmar Syndrome
Prominent interdigital folds, Short distal phalanx of toe, Short 1st metacarpal, Short distal pha... OMIM:601957
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Osteomyelitis, Periodontitis, Recurrent staphylococ... OMIM:116920
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... OMIM:250420
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Small hand, Proximal placement of thumb, Short foot, Limited elbow m... OMIM:300590
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Tapered finger, Weight loss, Diabetes mellitus, Brachydactyly ORPHA:317
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Massively thickened long bone cortices, Micromelia, Brachydactyly OMIM:122900
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Anemia, Thrombocytopenia ORPHA:858
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Brachydactyly, Type E1
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Type E brachydactyly OMIM:113300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing ORPHA:1858
Holt-Oram Syndrome
Ventricular septal defect, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminenc... OMIM:142900
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Dislocated radial head,... ORPHA:401935
Hand-Foot-Genital Syndrome
Delayed tarsal ossification, Short 2nd toe, Proximal placement of thumb, Short 5th finger, Pseudo... OMIM:140000
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive, Right ventricular hypert... OMIM:614261
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Short metatarsal, Avascu... OMIM:190351
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, R... OMIM:612840
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly OMIM:618618
Laron Syndrome
Hypoglycemia, Abnormality of the elbow, Truncal obesity, Short toe, Brachydactyly ORPHA:633
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... OMIM:615994
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Vacuolated lymphocytes, Metaphyseal irregularity, Cardiomegaly, ... OMIM:269920
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Pseudo... OMIM:201000
Poland Syndrome
Dextrocardia, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly, Unilateral brach... OMIM:173800
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Lower limb undergrowth, Brachydactyly, Bowing of the legs OMIM:612847
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Short thumb, Broad hallux, Brachydactyly OMIM:165800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Short toe, Obesity, Hyperinsulinemia, Brachydactyly ORPHA:3085
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly OMIM:618879
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... OMIM:184260
Coffin-Siris Syndrome 7
Abnormal heart morphology, Clinodactyly, Abnormal cardiac septum morphology, Brachydactyly OMIM:618027
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Short foot, Camp... ORPHA:3409
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly, Short metac... OMIM:605282
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Short metatarsal, Short metacarpal, Diabetes mellitus, Obesity, Short phal... OMIM:614613
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Chronic diarrhea, Achalasia, Recurren... OMIM:617053
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Tetralogy of Fallot, Pectoral muscle h... OMIM:136760
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... OMIM:617241
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal dappling, Metaphyseal irregularity, Genu valgum, Coxa vara, Brachydactyly, Hypoplasti... OMIM:184250
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Recurrent infections, Anemia, Gastric var... ORPHA:64743
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short metacarpal, Mesomelia, ... OMIM:617604
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Talipes equinovarus, Small for gestational age, Anemia, Proximal placement o... OMIM:615789
Spastic Paraplegia 20, Autosomal Recessive
Hammertoe, Short foot, Camptodactyly, Clinodactyly, Brachydactyly OMIM:275900
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent staphylococcal infections, Impaired platelet aggregation, Conjunctiv... ORPHA:2968
Intellectual Developmental Disorder, Autosomal Dominant 59
Short foot, Brachydactyly, Short palm OMIM:618522
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Greenberg Dysplasia
Rhizomelia, Brachydactyly, Abnormal pelvis bone ossification, Micromelia, Abnormal leukocyte morp... ORPHA:1426
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, High palate, Cleft palate, Neutropenia, Leukopenia, Monoc... OMIM:612541
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Bloody diarrhea, Thrombocytosis, Defective T cell proliferation, Severe varicella z... OMIM:618213
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Triphalangeal thumb, Neutropenia, Increased mean co... OMIM:612562
Cranioectodermal Dysplasia
Rhizomelia, Abnormality of the metaphysis, Finger syndactyly, Short distal phalanx of finger, Abn... ORPHA:1515
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Typ... OMIM:210720
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Cleft palate, Elevated... OMIM:619573
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Brachydactyly OMIM:617763
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Short thumb, Aortic valve stenosis, Brachydactyly ORPHA:3449
Schaaf-Yang Syndrome
Failure to thrive in infancy, Narrow palm, Tapered finger, Rocker bottom foot, Small hand, Short ... OMIM:615547
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Incre... ORPHA:167
Aredyld Syndrome
Hepatomegaly, Cachexia, Type II diabetes mellitus, Splenomegaly, Type I diabetes mellitus, Abnorm... ORPHA:1133
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Small for ... ORPHA:860
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly OMIM:618381
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... OMIM:300972
Jansen-De Vries Syndrome
Short foot, Small hand, Brachydactyly OMIM:617450
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Blackfan-Diamond Anemia
Triphalangeal thumb, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Reticulocytopenia, V... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Brachydactyly OMIM:610498
Complement Factor I Deficiency
Sinusitis, Glomerulonephritis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urina... OMIM:610984
Bardet-Biedl Syndrome 3
Obesity, Brachydactyly, Postaxial polydactyly OMIM:600151
Moebius Syndrome
Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia involving the met... OMIM:157900
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Elevated circula... OMIM:614576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly OMIM:600649
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Metaphyseal irregularity, Flared m... OMIM:187601
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Limb undergrowth, Clubbing, Genu valgum, Postaxial foot polydactyl... OMIM:619143
Opsismodysplasia
Hepatomegaly, Tapered finger, Abnormality of epiphysis morphology, Abnormality of the metaphysis,... ORPHA:2746
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Short fourth meta... ORPHA:457395
Cardiospondylocarpofacial Syndrome
Brachydactyly, Mitral valve prolapse, Synostosis of carpal bones, Short palm ORPHA:3238
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Metaphyseal widening, Limb undergrowth, Coarse metaphyseal trabecularization, Short long bone, Br... OMIM:618961
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Hypersplenism, Syndactyly, Right ... OMIM:616028
Temtamy Syndrome
Clinodactyly of the 5th finger, Genu varum, Brachydactyly, Short toe ORPHA:1777
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Brachytelomesophalangy, Short distal phalanx of finger ORPHA:1547
16P12.1P12.3 Triplication Syndrome
Hallux valgus, 2-3 toe syndactyly, Tapered finger, Failure to thrive, Abnormal heart morphology, ... ORPHA:485405
Craniofrontonasal Dysplasia
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Sandal gap, ... ORPHA:1520
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Syndactyly,... ORPHA:2169
Lowry-Wood Syndrome
Irregular epiphyses, Small epiphyses, Small for gestational age, Hip dislocation, Shallow acetabu... OMIM:226960
Achondroplasia
Short middle phalanx of finger, Bowing of the legs, Limb undergrowth, Rhizomelia, Abnormal iliac ... ORPHA:15
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Neutropenia, Brachydactyly ORPHA:2643
Pseudohypoparathyroidism, Type Ib
Obesity, Short metacarpal, Brachydactyly OMIM:603233