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Gene: Wdr37 MGI:1920393

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Gene Summary

Name:
WD repeat domain 37
Synonyms:
4933417A01Rik,  3110035P10Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
kyphosis Wdr37tm1a(KOMP)Wtsi HOM Early adult 7.53×10-06
increased circulating alkaline phosphatase level Wdr37tm1a(KOMP)Wtsi HOM Early adult 2.59×10-05
increased bone mineral content Wdr37tm1a(KOMP)Wtsi HOM Early adult 6.41×10-05
decreased leukocyte cell number Wdr37tm1a(KOMP)Wtsi HOM Early adult 7.56×10-06
increased circulating insulin level Wdr37tm1a(KOMP)Wtsi HOM Early adult 8.95×10-08
increased circulating calcium level Wdr37tm1a(KOMP)Wtsi HOM Early adult 3.80×10-06
abnormal spine curvature Wdr37tm1a(KOMP)Wtsi HOM Early adult 5.04×10-05
vertebral fusion Wdr37tm1a(KOMP)Wtsi HOM Early adult 3.92×10-05
decreased grip strength Wdr37tm1a(KOMP)Wtsi HOM   Early adult 8.79×10-06
fusion of vertebral arches Wdr37tm1a(KOMP)Wtsi HOM Early adult 1.67×10-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Histopathology

Images

6 Images

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Legacy Phenotype Associated Images
Wdr37tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdr37tm1a(KOMP)Wtsi
HOM, Male, WTSI
Wdr37tm1a(KOMP)Wtsi
HOM, Male, WTSI
Wdr37tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdr37tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 60 images

Wdr37tm1a(KOMP)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Wdr37tm1a(KOMP)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Wdr37tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Wdr37 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 Wdr37 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurooculocardiogenitourinary Syndrome
OMIM:618652

The table below shows human diseases predicted to be associated to Wdr37 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulna Metaphyseal Dysplasia Syndrome
Wrist pain, Hypercalcemia, Abnormality of the vertebral column, Delayed skeletal maturation OMIM:191420
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Short neck, Delayed puberty, Hyperinsulinemic hypoglycemi... OMIM:616033
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Adamantinoma
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Parastremmatic Dwarfism
Genu valgum, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism OMIM:617343
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Distal joint hypermobility, Scolios... OMIM:616471
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Type II diabetes mellitus, Abnormal sacrum morphology, Scoliosis, Fused c... ORPHA:1436
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Familial Isolated Hyperparathyroidism
Osteopenia, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Hypophosphatemia, ... ORPHA:99879
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Elevated circulat... OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Flexion contractur... OMIM:300718
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Myopathy, Tubular Aggregate, 2
Spinal rigidity, Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase co... OMIM:615883
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... ORPHA:40
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Joint contracture, Ankle clonus OMIM:611225
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Hypercalcemia, Bone cyst ORPHA:2668
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, In... OMIM:602080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... OMIM:606612
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Christian Syndrome
Thoracic hemivertebrae, Glucose intolerance, Prominent metopic ridge, Scoliosis, Fused cervical v... OMIM:309620
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Kyph... OMIM:277950
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platy... OMIM:271530
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Oculoskeletodental Syndrome
Delayed skeletal maturation, Hypercalcemia, Hypocalcemia, Hyperlordosis, Scoliosis, Thoracic kyph... ORPHA:557003
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Delayed skeletal maturation, Decreased response to growth hormone stimulation test, A... OMIM:614732
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon contracture, V... OMIM:607155
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibili... OMIM:241500
Thymic Neuroendocrine Tumor
Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade... ORPHA:97289
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Joint dislocation, Abnormal form of the vertebral bodies, Coarse metaphyseal... ORPHA:93160
Infantile Myofibromatosis
Chondrocalcinosis, Limitation of joint mobility, Bone cyst, Abnormal sacrum morphology, Hypercalc... ORPHA:2591
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Hypophosphatemia, Elevated circulating growth... ORPHA:249
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Oculoskeletodental Syndrome
Delayed skeletal maturation, Elbow flexion contracture, Hypercalcemia, Hypocalcemia, Splenomegaly... OMIM:618440
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Genu ... OMIM:619073
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Hypophosphatasia
Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Elbow contracture, Hip contracture, Kyphoscoliosis, Elevated circulating creatine kinase concentr... OMIM:620386
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Rickets, Hypophosphatemic ri... OMIM:612089
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... OMIM:178110
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Congenital bilateral hip dislocation, Kyphosis ORPHA:85288
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon... ORPHA:2114
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Accelerated skeletal maturation, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Delayed skeletal maturation, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis, Kyphosis... ORPHA:3085
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Kyphosis, Spinal ri... OMIM:617404
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Myasthenic Syndrome, Congenital, 25, Presynaptic
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypercalcemia, Met... OMIM:617994
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Reduced bone mineral density, Hypocalcemia, Delayed skeletal maturation ORPHA:172
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adr... ORPHA:199299
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Short neck, Vertebral fusion, S... ORPHA:2332
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Hypocalcemia, Abnormal l... ORPHA:53
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... OMIM:259450
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Sclerosis of skull base, Hip contracture, Knee flexion contracture, Thoracolumbar ... OMIM:313420
Ring Chromosome 21 Syndrome
Diabetes insipidus, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Hypercalcemia OMIM:143880
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Ullrich Congenital Muscular Dystrophy
Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Kne... ORPHA:75840
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Hy... OMIM:615290
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Kyphosis, Congenital contracture, Shoul... ORPHA:536516
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Vertebral compres... ORPHA:29073
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Recessive Kenny-Caffey Syndrome
Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic tetany, Hypocalcemia, D... ORPHA:93324
Obesity Due To Prohormone Convertase I Deficiency
Delayed skeletal maturation, Decreased response to growth hormone stimulation test, Hyperinsuline... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed skeletal maturation, Decreased response to growth hormone stimulation test, Hyperinsuline... ORPHA:71526
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos... ORPHA:85198
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroi... OMIM:618618
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Joint swelling, Abscess, Splenomegaly, Neutrophilia, Elev... OMIM:612852
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypoca... OMIM:259700
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Pathologic fracture, Hip contracture, Knee flexion contracture, Hypophosphatemia, Hyp... OMIM:156400
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enchondral ossifi... ORPHA:2635
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Splenomegaly, Hypophosphatemia, Calcinosis, Anemi... OMIM:239200
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Addison Disease
Adrenal calcification, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficiency, Primary... ORPHA:85138
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Bone pain, Hypophosphatemia, Hypercalcemia, Pri... OMIM:600740
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyroid adenoma, Hy... OMIM:145001
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae ORPHA:2522
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Kyphosis, Delayed ossification of carpal bones OMIM:618392
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circulat... OMIM:619040
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Splenomegaly, Elevated circulating creatine kin... OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hip dislocation, Scoliosis, Kyphosis OMIM:300434
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:312150
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Increased blood urea nitrogen, Episodic hemolytic anemia, Craniosynostosis, Hype... ORPHA:251004
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertr... OMIM:612526
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... OMIM:259440
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Abnormal circulating creatine kinase concentration, Kyphoscol... OMIM:618484
Spinal Cord Injury
Vertebral compression fracture, Hypercalcemia ORPHA:90058
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Enlargement of the wrists, Hypocalcemia, Sparse bone tr... OMIM:600081
Bruck Syndrome
Platyspondyly, Pterygium, Joint stiffness, Recurrent fractures, Wormian bones, Osteoporosis, Scol... ORPHA:2771
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Elevated circulating parathyroid hormone lev... ORPHA:289157
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Rickets, Enlarge... OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Chondrocalcinosis, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, H... OMIM:211900
Estrogen Resistance
Osteopenia, Delayed skeletal maturation, Hyperinsulinemia, Glucose intolerance, Increased serum e... OMIM:615363
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... OMIM:253290
Idiopathic Juvenile Osteoporosis
Kyphosis, Osteoporosis, Vertebral compression fracture, Recurrent fractures, Bone pain ORPHA:85193
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Iron deficiency anemia, Tooth abscess, Bon... ORPHA:89937
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Acute Adrenal Insufficiency
Normocytic anemia, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar... ORPHA:95409
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... ORPHA:915
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter... ORPHA:93284
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Hip dislocation, Scoliosis, Kyphosis OMIM:616756
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Finger joint cont... ORPHA:48431
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Limitation of joint mobility, Scoliosis, Kyphosis ORPHA:3454
Sandhoff Disease
Splenomegaly, Kyphosis ORPHA:796
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Hypercalcemia, Kyphosis ORPHA:476126
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Accelerated skeletal maturation ORPHA:1354
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Scoliosis, Kyphosis, Delayed skeletal maturation ORPHA:1548
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hypercholesterole... ORPHA:528
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... OMIM:146200
Kenny-Caffey Syndrome, Type 1
Delayed skeletal maturation, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congenit... OMIM:244460
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench... OMIM:156530
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Delayed puberty, Scoliosis, K... OMIM:301900
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Delayed skeletal maturation, Type II diabetes me... ORPHA:61
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cubitus valgus, Kyphosis, Joint hypermobility ORPHA:1875
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis, Calvarial hyperostosis OMIM:112350
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis OMIM:300831
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Short neck, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Maternal diabete... ORPHA:3027
Hall-Riggs Syndrome
Platyspondyly, Delayed skeletal maturation, Osteoporosis, Scoliosis, Kyphosis, Irregular vertebra... OMIM:234250
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Hip dislocation, Hip subl... ORPHA:93360
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Delayed skeletal maturation, Hypercalcemia, Joint hypermobility, ... ORPHA:369837
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia, Hyperinsuline... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Elbow flexion co... OMIM:248370
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Joint stiffness, Genu valgum, Claw hand deformity, Short nec... OMIM:252605
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... OMIM:272460
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cervical C2/C3 vertebral ... OMIM:618000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Monosomy 13Q34
Insulin resistance, Osteochondrosis, Hypercalcemia ORPHA:96168
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Oncogenic Osteomalacia
Abnormal vertebral morphology, Pathologic fracture, Hypocalcemia, Increased susceptibility to fra... ORPHA:352540
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalci... OMIM:601678
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Increased bo... ORPHA:36913
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Hypoglycemia ORPHA:163693
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio... OMIM:618476
Koolen-De Vries Syndrome
Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Hypothyroidism, Vertebral fu... ORPHA:96169
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma OMIM:145980
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Anterior beaking of lumbar vertebrae, Scolio... OMIM:230650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elbow flexion contracture, Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... OMIM:150250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hypermobility ORPHA:319199
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Kyphoscoliosis, Elevated circulating c... OMIM:300280
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypocalcemic seizures, ... ORPHA:405
Flynn-Aird Syndrome
Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thy... ORPHA:2047
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis ORPHA:178148
Weismann-Netter Syndrome
Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Abnormal cortical bone m... ORPHA:3344
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis OMIM:618234
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Abnormal parathyroid morpholog... ORPHA:99880
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont... OMIM:177170
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Kyphosis, Hyp... OMIM:615084
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Ullrich Congenital Muscular Dystrophy 1A
Hip dislocation, Mildly elevated creatine kinase, Wrist hypermobility, Increased laxity of finger... OMIM:254090
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Joint contracture, Hypertriglyceridemia, Osteoporosis, Sco... OMIM:615381
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Hip dislocation, Kyphosis, Laryngotracheomalacia, Genu valgum, Large ... OMIM:603546
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Shashi-Pena Syndrome
Hypoglycemia, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Sco... OMIM:617190
Parathyroid Carcinoma
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnorma... ORPHA:143
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:93314
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Abnormal circulating lipid concentration, Type II diabetes mellitus, ... ORPHA:3191
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Kyphosis OMIM:618237
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limitation of joint ... OMIM:607326
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Delayed skeletal maturation, Decreased response to grow... OMIM:241410
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Prominent metopic ridge ORPHA:85317
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... OMIM:610489
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral bodie... ORPHA:137834
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:271520
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcemia, Extraadre... ORPHA:276621
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Elevated circulating creatine kinase concentration OMIM:151800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Short neck, Scoliosis, Kyphosis OMIM:611890
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve... ORPHA:1724
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
X-Linked Agammaglobulinemia
Osteomyelitis, Hypocalcemia, Neutropenia, Arthritis, Anemia, Thrombocytopenia, Recurrent cutaneou... ORPHA:47
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Koolen-De Vries Syndrome
Hip dislocation, Spondylolisthesis, Joint hypermobility, Vertebral fusion, Scoliosis, Kyphosis, S... OMIM:610443
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Joint d... ORPHA:628
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Kyphosis, Hyp... ORPHA:352447
Sialidosis Type 2
Osteoporosis, Flexion contracture, Kyphosis, Splenomegaly ORPHA:87876
Alg1-Cdg
Hypoalbuminemia, Limitation of joint mobility, Scoliosis, Kyphosis ORPHA:79327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Joint stiffness, El... ORPHA:98855
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated circulating cal... ORPHA:29072
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hypermobility OMIM:614898
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave vertebral bodies, Decre... OMIM:259420
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Genu valgum, Joi... OMIM:253000
Ring Chromosome 10 Syndrome
Short neck, Hypocalcemia ORPHA:1438
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... OMIM:610968
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Elevated circu... ORPHA:247353
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim... OMIM:183900
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Scoliosis, Kyphosis, Joint hypermobility ORPHA:2181
Rhizomelic Syndrome, Urbach Type
Hip dislocation, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck,... ORPHA:3098
Typical Nemaline Myopathy
Hip dislocation, Arthrogryposis multiplex congenita, Genu valgum, Elevated circulating creatine k... ORPHA:171436
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Genu valgum, Laryngotracheomalacia, Reduced bone m... ORPHA:94068
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Joint stiffness, El... ORPHA:98863
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... OMIM:103580
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Dislocation of the femoral head, Delayed closure of the anterior font... OMIM:619797
Prader-Willi Syndrome
Precocious puberty, Osteopenia, Decreased HDL cholesterol concentration, Decreased response to gr... OMIM:176270
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancy... OMIM:259720
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Joint ... ORPHA:352490
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis ORPHA:2983
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Anemia, Delayed closure of the a... OMIM:127000
Arthrogryposis, Distal, Type 4
Osteopenia, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Camptodact... OMIM:609128
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Ppoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97278
Marinesco-Sjogren Syndrome
Elevated circulating creatine kinase concentration, Cubitus valgus, Flexion contracture, Scoliosi... OMIM:248800
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Delayed skeletal maturation, Hypocalcemia, Congenital h... ORPHA:2323
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Hypothyroidism, Neutropenia, F... OMIM:609053
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Delayed skeletal maturation, Hyperglycemia, Hyper... OMIM:246200
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Glucose intolerance, Biconcave vertebral bod... OMIM:219090
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hypogonadotropic hypogonadism, Hemivertebrae, V... ORPHA:377
Basal Cell Nevus Syndrome 1
Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral... OMIM:109400
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Thrombocytopenia, Scoliosis,... ORPHA:3320
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Ab... ORPHA:175
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Joint stiffness, El... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Joint stiffness, El... ORPHA:98853
Sjögren-Larsson Syndrome
Joint stiffness, Scoliosis, Kyphosis ORPHA:816
Grfoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97261
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Autoimmun... ORPHA:37042
Crisponi Syndrome
Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Kyphosis, Arthrogryposis multiplex congenita, Multiple joint contract... OMIM:618291
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar scoliosis, Hypothyroidism, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion OMIM:617796
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Thrombocytopeni... OMIM:620185
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Hyper... OMIM:606407
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Joint hypermobility, Short neck, Beaking o... OMIM:213980
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Urban-Rogers-Meyer Syndrome
Kyphosis, Camptodactyly of finger, Hypogonadism, Short neck, Osteoporosis, Recurrent fractures, F... ORPHA:3409
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of finger, Increa... ORPHA:90652
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing... OMIM:166220
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Williams Syndrome
Synostosis of joints, Genu valgum, Type II diabetes mellitus, Radioulnar synostosis, Patellar dis... ORPHA:904
Clark-Baraitser syndrome
Genu recurvatum, Genu valgum, Joint hypermobility, Scoliosis, Kyphosis OMIM:300602
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Scoliosis, Kyphosis OMIM:180870
Mucopolysaccharidosis Type 4
Platyspondyly, Joint dislocation, Delayed skeletal maturation, Spinal canal stenosis, Genu valgum... ORPHA:582
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... ORPHA:79443
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Rickets, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Delay... OMIM:212750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Hyperlordosis, Scoliosis,... OMIM:617821
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Scoliosis, Kyphosis OMIM:615834
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Desbuquois Dysplasia 1
Platyspondyly, Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal d... OMIM:251450
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus OMIM:617435
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification OMIM:602361
Arthrogryposis, Distal, Type 5
Limited wrist extension, Distal arthrogryposis, Recurrent patellar dislocation, Congenital finger... OMIM:108145
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Stickler Syndrome, Type I
Platyspondyly, Joint stiffness, Spondylolisthesis, Morbus Scheuermann, Arthropathy, Joint hypermo... OMIM:108300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Hip dislocation, Scoliosis, Kyphosis ORPHA:464282
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Delayed skeletal maturation, Thoracic hemivertebrae, Delayed cranial suture c... OMIM:268310
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Hypocalcemia, Hypoglycemia OMIM:607143
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Ankle clonus OMIM:614409
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia, Abnormalit... OMIM:169400
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Hypoglycemia, Delayed skeletal maturation, Pancytopenia, Re... OMIM:613658
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Irr... OMIM:252600
Frontometaphyseal Dysplasia
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... ORPHA:1826
Kbg Syndrome
Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Osteomyelitis, Hypocalcemia, Absc... ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Bone pain, Joint stiffness,... ORPHA:2062
Congenital Myopathy 22A, Classic
Mildly elevated creatine kinase, Knee contracture, Hip contracture, Thoracic scoliosis, Achilles ... OMIM:620351
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Recurrent fractures, Hyperuricemia... OMIM:239000
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Hypoglycemia OMIM:601005
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hemivertebrae,... OMIM:206900
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Recurrent fractures, Decreased skull ossification, Decreased calvarial... OMIM:610915
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Hypothyroidism, Abnorma... ORPHA:324737
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,... OMIM:253010
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recurrent fract... OMIM:616294
Pycnodysostosis
Coronal craniosynostosis, Spondylolysis, Persistent open anterior fontanelle, Delayed cranial sut... ORPHA:763
Sarcoidosis
Hemolytic anemia, Leukopenia, Joint swelling, Bone cyst, Increased T cell count, Abnormality of t... ORPHA:797
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Kyphosis, Delayed skeletal maturation, Hypocholesterolemia, Splenomegaly, Short ... OMIM:608776
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Scoliosis, Kyphosis, Ankle clonus OMIM:609541
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Cervical spinal canal stenosis, Lumbar hyperlord... ORPHA:15
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg... ORPHA:79474
Schaaf-Yang Syndrome
Hypogonadism, Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, ... OMIM:615547
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypocalcemia, Thyroid lymphangiectasia, Short neck, Hypoproteinemia OMIM:235255
Wieacker-Wolff Syndrome
Hip dislocation, Arthrogryposis multiplex congenita, Congenital foot contractures, Short neck, Hy... OMIM:314580
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Flat acetabular roof, Wormian bones, Fused cervical vertebrae OMIM:617159
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Joint hypermobility, Hypogonadotropic hypogonadism, Delayed pub... OMIM:619718
Thanatophoric Dysplasia
Platyspondyly, Joint stiffness, Joint hypermobility, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... OMIM:300942
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Vertebral segmentation defect, Sh... ORPHA:2311
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Gm1-Gangliosidosis, Type I
Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bod... OMIM:230500
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Hypercalcemia, Acute lymphoblastic leuk... ORPHA:821
Ruvalcaba Syndrome
Synostosis of carpal bones, Abnormal vertebral epiphysis morphology, Delayed puberty, Scoliosis, ... ORPHA:3121
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Hip contracture, Limited shoulder movement, Short neck, Achilles tendon contracture, Fl... OMIM:301041
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Hypoglycemia, Camptodactyly of finger, Polysplenia, Splenomegaly, Pan... ORPHA:373
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Delayed skeletal matu... ORPHA:3464
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Fountain Syndrome
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral b... ORPHA:3219
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Kyphosis, Joint stiffness, Vertebral segmentation defect, Scoliosis, ... ORPHA:1005
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... ORPHA:26793
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Joint hypermobility, Hypothyroidism, Hypercholesterolemia, Genu varum, Scoliosis, Kyp... ORPHA:2479
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord... OMIM:223800
Acro-Renal-Ocular Syndrome
Radial club hand, Vertebral fusion, Vertebral segmentation defect ORPHA:959
Sialidosis Type 1
Abnormal form of the vertebral bodies, Delayed skeletal maturation, Splenomegaly, Scoliosis, Kyph... ORPHA:812
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Cystic angiomatosis of bone, Accelerat... OMIM:269700
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic teta... ORPHA:93325
Williams-Beuren Syndrome
Osteopenia, Early onset of sexual maturation, Glucose intolerance, Kyphoscoliosis, Joint hypermob... OMIM:194050
Marfanoid Habitus With Situs Inversus
Genu recurvatum, Scoliosis, Kyphosis, Hyperextensibility of the finger joints OMIM:609008
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Kyphosis, Joint hypermobility ORPHA:93274
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Congenital hip dislocation, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Ca... OMIM:617913
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Massively thickened long bone cortices, Wormian bones, Short... ORPHA:1798
19P13.12 Microdeletion Syndrome
Precocious puberty, Arthrogryposis multiplex congenita, Hyperlipidemia, Short neck, Hypothyroidis... ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Cystic angiomatosis of bone, Accelerated ... OMIM:608594
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Delayed puberty, Kyphosis, Joint hypermobility OMIM:300354
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Delay... ORPHA:508533
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Hyperuricemia ORPHA:261222
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Enlarged vertebral pedicles, Joint stiffness, Short ... OMIM:139210
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic platyspondyly, Genu valgum, Li... OMIM:618019
Cole-Carpenter Syndrome