Gene Summary

Name:
isocitrate dehydrogenase 2 (NADP+), mitochondrial
Synonyms:
Idh-2,  IDPm

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 mean corpuscular volume Idh2tm1b(EUCOMM)Hmgu HOM Early adult 7.01×10-05
increased hemoglobin content Idh2tm1b(EUCOMM)Hmgu HOM Early adult 3.77×10-05
decreased mean corpuscular hemoglobin Idh2tm1b(EUCOMM)Hmgu HOM   Early adult 7.44×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 4)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (4 of 4)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 4)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 4)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 75% (3 of 4)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 25% (1 of 4)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 4)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 4)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 4)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 4)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 4)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 4)
Tail N/A homozygote 50% (1 of 2)

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)
bone 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)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
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%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
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)
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)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Idh2 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 Idh2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Idh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Osteopenia, Short neck, Scoliosis, Intervertebral... OMIM:271530
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Kyphosis OMIM:277950
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... ORPHA:2114
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Ollier Disease
Joint stiffness, Neoplasm, Chondrosarcoma, Lymphangioma, Hemangioma, Platyspondyly, Osteolysis, M... ORPHA:296
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Thickened cortex of long bones ORPHA:53697
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... ORPHA:1426
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Hip osteoarthritis, Knee osteoarthritis, ... ORPHA:2619
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly OMIM:617719
Pyle Disease
Platyspondyly, Scoliosis, Limited elbow extension, Reduced bone mineral density OMIM:265900
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... OMIM:610967
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Joint laxity, Elbow flexion co... OMIM:259450
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... OMIM:313420
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Osteoporosis OMIM:618234
Metatropic Dysplasia
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... ORPHA:2635
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Lipoma, Splenomegaly, Calvarial hyperostosis... OMIM:176920
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck OMIM:616583
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones OMIM:618392
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Joint laxity, Increased susceptibility to fractures, Premature o... OMIM:130060
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Bowing... OMIM:259440
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Osteoporosis of vertebrae, Multiple small vertebral fractures OMIM:156510
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Exostoses, Generalized joint laxity, Osteoarthriti... ORPHA:85198
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis OMIM:234250
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Arthrogry... ORPHA:2771
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Interverteb... ORPHA:93284
Shashi-Pena Syndrome
Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis ORPHA:71267
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis, Osteoporosis, Joint hyp... OMIM:614856
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... OMIM:136300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Lumbar platyspondyly, Patent ductus ... OMIM:618961
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Pseudoachondroplasia
Limited hip extension, Joint stiffness, Delayed epiphyseal ossification, Lumbar hyperlordosis, Be... ORPHA:750
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... OMIM:222600
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, Camptodactyly of ... OMIM:208230
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis, Calvarial hyperostosis OMIM:112350
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Platyspondyly, Ovoid vertebral bodies OMIM:609052
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Spondylocamptodactyly
Camptodactyly of finger, Cervical platyspondyly, Scoliosis, Camptodactyly OMIM:600000
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Platyspondyly, Thin bony cortex OMIM:619638
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Elbow flexion contracture OMIM:601561
Dysosteosclerosis
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture OMIM:616507
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... OMIM:600175
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Platyspondyly, Flexion contracture ORPHA:157965
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspondyly, Scoliosis, ... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, ... OMIM:602557
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregular vertebral endplates, Beaking of vertebral bodies, Joint contracture of the hand, Platys... ORPHA:1159
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Bruck Syndrome 2
Flexion contracture, Osteopenia, Platyspondyly, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Platyspondyly, Osteoporosis, Fractures of the long bones ORPHA:319195
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Sea-blue histiocytosis, Beaking of vertebral bodies, Hypoplastic vertebral bodie... OMIM:230600
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cervical spine ORPHA:48431
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Squared-off platyspondyly, Narrow vertebral interpedicular dista... ORPHA:93352
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... ORPHA:289176
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Scoliosis, Reduced bone mineral density ORPHA:2617
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process, D... OMIM:184250
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormality of the vertebral endplates, Platyspondyly, Limited elbow extension, Ovoid vertebral b... ORPHA:1856
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Scoliosis, Hyperlordosis, Reduced bone mineral density ORPHA:262
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Bethlem Myopathy 2
Kyphosis, Scoliosis, Flexion contracture, Distal joint laxity OMIM:616471
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Platyspondyly, Scoliosis, Osteoporosis, Joint hypermobility OMIM:619131
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of thoracic vertebral bodie... OMIM:601376
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Flexion contracture, Absent ossification of capital femoral epiphysis, Short nec... OMIM:245160
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Increased bone mineral density, Visceral angiomatosis, Camptodactyly o... ORPHA:628
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Abnormal cortical bone morpho... ORPHA:3344
Arthrogryposis, Distal, Type 4
Kyphosis, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Lumbar scoliosi... OMIM:609128
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Atlantoaxial insta... OMIM:607326
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Coronal cleft vertebrae, Increas... ORPHA:93314
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Spondylo-Ocular Syndrome
Platyspondyly, Short neck, Osteoporosis, Thoracic kyphosis, Abnormal intervertebral disk morpholo... ORPHA:85194
Maffucci Syndrome
Recurrent fractures, Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Br... ORPHA:163634
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Short neck, Platyspondyly, Anisospond... ORPHA:163649
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... OMIM:231070
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Joint laxity, Increased suscep... OMIM:610968
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... ORPHA:99642
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Brachyolmia Type 2
Platyspondyly OMIM:613678
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Scoli... OMIM:166220
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Limitation of joint mobi... ORPHA:93351
Sialidosis Type 2
Kyphosis, Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Osteopenia, Camptod... OMIM:612350
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices OMIM:122900
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Reduced bone m... ORPHA:94068
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis OMIM:618728
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short neck, Decreased skull ossification ORPHA:93267
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Short n... OMIM:183900
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Bone cyst, Scoliosis ORPHA:2047
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Generalized bone demineralization, Decreased anterio... ORPHA:3101
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:600081
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Neoplasm, Kyphosis, Osteoporosis OMIM:219080
Morquio Syndrome C
Platyspondyly OMIM:252300
Cantu Syndrome
Platyspondyly, Short neck, Osteoporosis, Patent ductus arteriosus, Cuboid-shaped vertebral bodies... OMIM:239850
Mucopolysaccharidosis, Type Iva
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Osteoporosis, Scoliosi... OMIM:253000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Platyspondyly, Joint la... OMIM:615349
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Frank-Ter Haar Syndrome
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis, Osteo... ORPHA:137834
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly, Scoliosis, Elbow... OMIM:184252
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta, Reduced bone mineral density ORPHA:2983
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Hyperlordosis, Joint laxity, Ovoid vertebral bo... OMIM:253010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies OMIM:609324
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Beaking o... OMIM:177170
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Biconcave vertebral bodies, Scol... OMIM:259420
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Laryngotracheomalacia, Delayed epiphyseal ossification, Kyphosis, Kyphoscoliosis, Generalized joi... ORPHA:93360
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Biconvex vertebral bodies, Platyspondyly, Scoliosis, Osteop... OMIM:184260
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Cole-Carpenter Syndrome 2
Kyphosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Lambdoidal craniosynostosis OMIM:616294
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Platyspondyly, Short neck, Scolios... ORPHA:582
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Kyphosis, Osteopenia, Decreased calvarial ossification, Platyspondyly, Scoli... OMIM:610915
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita, Flexion contracture OMIM:618291
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Kyphosis, Platyspondyly OMIM:618476
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Limited elbow extension, J... ORPHA:93359
Joint Laxity, Short Stature, And Myopia
Osteopenia, Kyphoscoliosis, Short neck OMIM:617662
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Short neck,... OMIM:255800
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Camptodactyly of finger, Short neck, Osteoporosis, Flexion contrac... ORPHA:3409
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Platyspondyly, Short neck, Thoracolumbar scoliosis OMIM:616723
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Lumbar hyperlordosis, Reduced bone mineral density, Biconvex vertebra... ORPHA:93315
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... OMIM:256050
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Delayed ossification of carpal bones, Osteopenia, Platyspondyly, Scoliosis, A... ORPHA:168549
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility ORPHA:1875
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Osteosclerosis of ribs, Abnor... ORPHA:174
Alpha-Mannosidosis
Kyphosis, Splenomegaly, Short neck, Scoliosis, Synostosis of joints, Arthritis, Craniofacial hype... ORPHA:61
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Achilles tendon co... OMIM:615290
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoaxial disloca... OMIM:607095
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Severe platyspondyly, Short neck, Decreased cranial base ossification OMIM:151210
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis, Splenomegaly OMIM:602271
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Platyspondyly, Vertebral compr... OMIM:616229
Sandhoff Disease
Kyphosis, Splenomegaly ORPHA:796
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Decreased skull ossification OMIM:300863
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... OMIM:313400
Rothmund-Thomson Syndrome
Reduced bone mineral density, Osteopenia, Melanoma, Aplastic anemia, Abnormal trabecular bone mor... ORPHA:2909
Desbuquois Dysplasia 1
Kyphosis, Advanced ossification of carpal bones, Osteoarthritis, Short neck, Platyspondyly, Osteo... OMIM:251450
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Glioma, Platyspondyly, Osteoporosis, Pathologic fracture, Increased susceptibilit... OMIM:259770
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Limitation of joint mobility, Congenital foot contractures ORPHA:3454
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis, Osteoporosis, Flexion contracture OMIM:615381
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Scoliosis ORPHA:1548
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... OMIM:615220
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Otospondylomegaepiphyseal Dysplasia
Lumbar hyperlordosis, Abnormally ossified vertebrae, Osteoarthritis, Platyspondyly, Short neck, A... ORPHA:1427
Gaucher Disease Type 1
Kyphosis, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, P... ORPHA:77259
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Exostoses, Shor... ORPHA:1798
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones... OMIM:271510
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes OMIM:301900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:264700
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... ORPHA:75840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... OMIM:271650
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... ORPHA:536516
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tracheomalacia, Short neck, Platyspondyly, Lumb... OMIM:156550
Rothmund-Thomson Syndrome Type 2
Osteopenia, Melanoma, Synostosis involving bones of the upper limbs, Aplastic anemia, Abnormal tr... ORPHA:221016
Multiple Epiphyseal Dysplasia, Beighton Type
Joint stiffness, Thoracic scoliosis, Osteoarthritis, Biconcave vertebral bodies, Abnormal lumbar ... ORPHA:166011
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Dysosteosclerosis
Irregular vertebral endplates, Sclerosis of skull base, Hypoplastic vertebral bodies, Increased i... OMIM:224300
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Anemia, Scoliosis ORPHA:2598
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Lumbar hyperlordosis, Osteopenia, Short neck, Platyspondyly, Thrombocyt... OMIM:242900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fractures OMIM:166210
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular tarsal ossification, Ivory epiphyses of the phalanges of... OMIM:226980
Osteogenesis Imperfecta, Type X
Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Joint laxity, Vertebral compressi... OMIM:613848
Rothmund-Thomson Syndrome Type 1
Osteopenia, Melanoma, Aplastic anemia, Finger symphalangism, Abnormal trabecular bone morphology,... ORPHA:221008
Hypophosphatasia, Infantile
Craniosynostosis, Vertebral clefting, Decreased calvarial ossification, Platyspondyly, Increased ... OMIM:241500
Fountain Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Coarse metaphys... ORPHA:3219
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Cantú Syndrome
Platyspondyly, Short neck, Osteoporosis, Patent ductus arteriosus, Cuboid-shaped vertebral bodies... ORPHA:1517
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:277440
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Kyphoscoliosis, Platyspondyly, Scoliosis ORPHA:93316
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita OMIM:611890
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Bicoronal synostosis, Joint hypermobility OMIM:619718
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture OMIM:618237
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hyperflexibility ORPHA:319199
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Delayed ossification of carpal bones, Lymphopenia, Cervical instability, Eosinoph... OMIM:617425
Metaphyseal Acroscyphodysplasia
Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Hypoplasia of the odontoi... OMIM:250215
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility ORPHA:250984
Cowden Syndrome
Bone cyst, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neoplasm of the central ... ORPHA:201
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Short neck, Plat... OMIM:269250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis OMIM:610475
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Zimmermann-Laband Syndrome 3
Kyphosis, Patent ductus arteriosus, Flexion contracture OMIM:618658
Thanatophoric Dysplasia
Kyphosis, Joint stiffness, Platyspondyly, Patent ductus arteriosus, Abnormal sacroiliac joint mor... ORPHA:2655
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Joint hyperflexibility, Abnormality of vertebral epiphysis morphology ORPHA:90653
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Sclerosis of skull base, Lumbar hyperlordosis, Lymphopenia, Kyphos... OMIM:607944
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Short neck, Platyspondyly, Fractured radius, Decreased skull oss... OMIM:616897
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, Platyspondyly, S... OMIM:612394
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Odontochondrodysplasia
Patent ductus arteriosus, Platyspondyly, Scoliosis, Joint hyperflexibility ORPHA:166272
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Craniosynostosis, Osteopenia, Ossifying fibroma of t... ORPHA:457395
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Flexion contracture, Scoliosis, Arthrogr... OMIM:618484
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Arthralgia/arthritis OMIM:314570
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis, Joint laxity OMIM:248760
Czech Dysplasia
Irregular vertebral endplates, Osteochondroma, Flexion contracture, Platyspondyly, Scoliosis, Tho... OMIM:609162
Atelosteogenesis Type I
Abnormal ossification involving the femoral head and neck, Platyspondyly, Scoliosis, Absent or mi... ORPHA:1190
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Biconcave vertebral bodies, Osteoporosis, Vertebral compression frac... OMIM:219090
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Platyspondyly, Joint contracture of the 5th finger OMIM:601668
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Elbow flexion contracture, Knee flexion contracture, Ank... OMIM:619040
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Microspherophakia-Metaphyseal Dysplasia
Spinal stenosis with reduced interpedicular distance, Flattened moderately deformed vertebrae OMIM:157151
Gm1 Gangliosidosis
Joint stiffness, Kyphosis, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Platyspondy... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Scoliosis, Joint contracture of the 5th finger, Arthrogr... ORPHA:352490
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Thanatophoric Dysplasia Type 2
Kyphosis, Limitation of joint mobility, Platyspondyly, Patent ductus arteriosus, Joint hyperflexi... ORPHA:93274
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Kyphosis, Patent ductus arteriosus, Scoliosis OMIM:619797
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis OMIM:239000
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Becker Nevus Syndrome
Kyphosis, Hamartoma, Scoliosis, Spina bifida occulta ORPHA:64755
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Patent duct... OMIM:130720
Sjögren-Larsson Syndrome
Kyphosis, Joint stiffness, Scoliosis ORPHA:816
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Osteoarthritis, Platys... OMIM:108300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies OMIM:608940
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossificatio... OMIM:223800
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Camptodactyly of finger, P... ORPHA:261318
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Osteogenesis Imperfecta, Type I
Recurrent fractures, Biconcave flattened vertebrae, Osteopenia, Increased susceptibility to fract... OMIM:166200
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:615834
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis OMIM:610489
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis, Limitation of joint mobility ORPHA:1545
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Anterior scalloping of vertebral bodies, Flexion contracture, Pl... OMIM:611717
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Limited elbow extension, Joint laxity, Bladder carcinoma, ... OMIM:304150
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis, Myelodysplasia, Bicoronal synostosis, Joint hypermo... OMIM:619951
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Short neck, Platyspondyly, Scoliosis, Joint laxity OMIM:618395
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Scolios... ORPHA:3042
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Decreased calvarial ossification, Platyspondyly OMIM:617866
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, At... ORPHA:536467
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2181
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Osteopenia, Scoliosis, Joint hyperflexibility ORPHA:2479
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Flexion contracture, Hyperlordosis OMIM:255200
Progressive Non-Infectious Anterior Vertebral Fusion
Joint stiffness, Kyphosis, Spinal rigidity, Exostoses, Proximal radio-ulnar synostosis, Hemiverte... ORPHA:2062
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Scoliosis, Limited elbow movement OMIM:300280
Pycnodysostosis
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Spondyloly... ORPHA:763
Mucopolysaccharidosis, Type Vii
Joint stiffness, Kyphosis, Flexion contracture, Splenomegaly, Anterior beaking of lumbar vertebra... OMIM:253220
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Increased suscep... ORPHA:2769
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Platyspondyly, Scoliosis OMIM:619269
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Joint hype... ORPHA:2789
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Lymphopenia, Increased intervertebral space, Craniosynostosis, Ce... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Limited elbow extension OMIM:608728
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Limited elbow extension OMIM:180870
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Limitation of joint mobility ORPHA:3098
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis OMIM:156500
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Clark-Baraitser syndrome
Kyphosis, Joint laxity, Scoliosis OMIM:300602
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Lumbar hyperlordosis, Flexion contracture, Platyspondyly, Premature ... OMIM:215150
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Lymphopenia, Lymphoproliferative disorder, Short neck, Platyspondyly, Abnor... ORPHA:1830
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Distal Tetrasomy 15Q
Kyphosis, Flexion contracture, Craniosynostosis, Nephroblastoma, Scoliosis, Camptodactyly, Patent... ORPHA:314588
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
Greenberg Dysplasia
Recurrent fractures, Sclerosis of skull base, Hypoplastic vertebral bodies, Anterior rib punctate... OMIM:215140
Diamond-Blackfan Anemia 7
Increased mean corpuscular vo