Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

tumor necrosis factor (ligand) superfamily, member 11
Trance,  RANKL,  osteoclast differentiation factor,  OPGL,  Ly109l,  ODF

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Tnfsf11 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 Tnfsf11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tnfsf11 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Failure to thrive, Osteopet... OMIM:259700
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Increased bone mineral density OMIM:166450
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... OMIM:614188
Eiken Syndrome
Short middle phalanx of finger, Midface retrusion, Oligodontia, Pseudoepiphyses, Long hallux, Typ... OMIM:600002
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... OMIM:166600
Increased bone mineral density OMIM:265880
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... OMIM:259710
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density OMIM:190320
Osteoglosphonic Dysplasia
Micrognathia, Failure to thrive in infancy, Multiple unerupted teeth, Abnormal form of the verteb... ORPHA:2645
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Micrognathia, Osteopetrosis, Anemia, Decreased osteoclast count, Gingival overgrowt... OMIM:259720
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Macrocephaly, Thrombocytopenia OMIM:615085
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... OMIM:271530
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Shor... OMIM:265800
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... OMIM:265900
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocyto... OMIM:611490
Dysplastic Cortical Hyperostosis
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormality of limb bone morphol... ORPHA:2204
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Increased bone mineral density, Delayed cranial suture c... ORPHA:2780
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Albers-Schönberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Arthritis... ORPHA:53
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Macrocephaly, Incre... ORPHA:178377
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Splenomegaly, Reduced bone mineral density, Cholestasis, Hypocal... ORPHA:172
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Midface retrusion, Abnormal dental enamel morphology, Del... ORPHA:1452
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chon... ORPHA:564003
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... ORPHA:2501
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Eiken Syndrome
Abnormal acetabulum morphology, Limited elbow flexion, Thin bony cortex, Short stature, Narrow pe... ORPHA:79106
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... OMIM:190351
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Craniosynostosis 2
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Cleft soft palate, Trigonocephaly, Cranio... OMIM:604757
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Abnormality of the dentition, Osteoporosis, Osteopenia OMIM:615269
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Bowing of... ORPHA:313855
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... ORPHA:2114
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short long bone, Microretrog... OMIM:618363
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Greenberg Dysplasia
Epiphyseal stippling, Malar flattening, Multiple prenatal fractures, Abnormal bone structure, Sup... OMIM:215140
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple... OMIM:273050
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flatten... OMIM:311300
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... ORPHA:93284
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of epiphysis morphology, Lymphadenopathy, Osteopetrosis, Craniosynostos... ORPHA:667
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Metatarsus adductus, Micrognathia, Cleft palate, Talipes, Failure to thrive, Osteopetrosis, Epica... ORPHA:35107
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, K... OMIM:112350
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Short philtrum, Short stature, Osteoporosis, Platyspondyly, Delayed erupti... ORPHA:71267
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short 4th metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Limb u... OMIM:118651
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teet... OMIM:619489
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Short stature, Abnormality of epi... ORPHA:63442
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Cleft pala... ORPHA:166119
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Osteoporosis, Malar flattening, Wormian bones, Del... OMIM:613849
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, O... OMIM:611702
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Diaphragmatic eventration, Microcephaly OMIM:600252
Dominant Beta-Thalassemia
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Malar prominence, Decreased mean corpuscular hem... ORPHA:231226
Osteopetrosis, Autosomal Recessive 3
Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... OMIM:259730
Marbach-Rustad Progeroid Syndrome
Micrognathia, Short clavicles, Smooth philtrum, Hypodontia, Eruption failure, Wormian bones, Redu... OMIM:619322
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Micrognathia, Abnormality of facial mu... ORPHA:2980
Parastremmatic Dwarfism
Kyphosis, Genu valgum, Severe short stature, Flexion contracture, Short neck, Scoliosis OMIM:168400
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Cleft palate, Hip contracture, Neonatal shor... OMIM:222600
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Increased head circumference, Hypocalcemic seizures, Osteopetrosis, Anemia, Splenom... OMIM:612301
Osteoglophonic Dysplasia
Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Malar flattening, Short phalanx of finger, H... OMIM:166250
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Congenital hypoparathyroidism, Hypocal... ORPHA:93324
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... OMIM:618728
Hypocalcemic Vitamin D-Resistant Rickets
Premature loss of primary teeth, Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hy... ORPHA:93160
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Cleidocranial Dysplasia
Cleft palate, Aplastic clavicle, Malar flattening, Absent frontal sinuses, Increased bone mineral... OMIM:119600
Beta-Thalassemia Major
Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Malar prominence, Decreased... ORPHA:231214
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of ... ORPHA:3238
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Anemia, Congenital Dyserythropoietic, Type Ia
Mild postnatal growth retardation, Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomega... OMIM:224120
Gracile Bone Dysplasia
Asplenia, Failure to thrive, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia, Sle... OMIM:602361
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Ollier Disease
Lymphangioma, Anemia, Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilag... ORPHA:296
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:502
Kenny-Caffey Syndrome, Type 1
Carious teeth, Congenital hypoparathyroidism, Small hand, Anemia, Calvarial osteosclerosis, Hypom... OMIM:244460
Diaphyseal thickening, Ptosis, Abnormal cortical bone morphology, Finger syndactyly, Curved dista... ORPHA:3152
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Hypophosphatemia, Osteopenia, Hypocalcemia, Flared metaphysis, Me... OMIM:619073
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... ORPHA:37748
Diastrophic Dysplasia
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral b... ORPHA:628
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Abnormal palate morphology, Micrognathia, Crowded maxillary incisors, Abnormality ... ORPHA:2063
Flynn-Aird Syndrome
Carious teeth, Increased bone density with cystic changes, Osteoporosis, Increased bone mineral d... OMIM:136300
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Failure to thrive, Supernumerary tooth, Delayed eruption of teeth, San... OMIM:264475
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Abnormal dent... ORPHA:2658
Odontochondrodysplasia 1
Genu varum, Short stature, Delayed eruption of teeth, Short phalanx of finger, Short long bone, F... OMIM:184260
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Genu varum, Malar flattening, Childhood onset short-limb short stature, Limited elbow extension, ... OMIM:146000
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Metaphy... OMIM:234250
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Platyspondyly, Kyphosis, Macrocephaly, Hypocalcemia OMIM:618476
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Hypo... ORPHA:763
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Kyphosis, Delayed ossification of carpal bones, Decreas... OMIM:618392
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Se... OMIM:617780
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... ORPHA:77258
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Limitation of... ORPHA:3145
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short stature, Joint contracture of the hand, Delayed eruption of teeth, Moderately short stature... OMIM:612350
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Hypocalcemic... ORPHA:289157
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Short stature, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Shor... OMIM:612463
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... OMIM:191482
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Metatropic Dysplasia
Epiphyseal dysplasia, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis, Arthrogryp... OMIM:156530
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Malar flattening, Abnormal... OMIM:601559
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Broad long bones, High palate, Microdontia, Mandibular prognathia, Cub... OMIM:269300
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... ORPHA:94089
Aredyld Syndrome
Hepatomegaly, Cachexia, Smooth philtrum, Mandibular prognathia, Upslanted palpebral fissure, Abno... ORPHA:1133
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Micrognathia, High palate, Thin bony cortex, Overtubulated long bo... ORPHA:85184
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... ORPHA:398063
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Anodontia, Abnormal vertebral segmentatio... ORPHA:90650
Familial Osteodysplasia, Anderson Type
Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Increa... ORPHA:2769
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99977
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Oligodontia, Small for gestational age, Macroglossia, Epicanthus, Sp... OMIM:618440
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, Achilles tendon contract... OMIM:181350
Majeed Syndrome
Leukocytosis, Hepatomegaly, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive... ORPHA:77297
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of ... ORPHA:47
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Iron deficiency anemia, Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia... ORPHA:89937
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Sclerotic scapulae, Absen... OMIM:601376
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Limited elbow extensio... ORPHA:175
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Neutropenia, S... OMIM:250250
Glycerol Kinase Deficiency
Myopathy, Small for gestational age, Osteoporosis, Pathologic fracture, Frontal bossing, Muscular... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Failure to thrive, Kyphoscolios... OMIM:614727
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the radius, Abnormal dental enamel morphology, Delayed erupt... ORPHA:2909
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of the dentition, Brachydactyly ORPHA:1264
Brachydactyly, Type E1
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Moderately short stature, Mul... OMIM:113300
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Midface retrusion, Brachycephaly, Abnormality of epiph... ORPHA:1798
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Slender finger, Anisospondyly, Increased bone mineral density, Flat acetabular roof... ORPHA:163649
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
2-3 toe syndactyly, Pes planus, Slanting of the palpebral fissure, Unilateral radial aplasia, Hyp... ORPHA:476126
Hallermann-Streiff Syndrome
Malar flattening, Micrognathia, High palate, Wormian bones, Joint hypermobility, Narrow palate, F... OMIM:234100
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Pancytopenia, Enlarged tonsils, Elliptocytosis, Micrognathia, High palate, Bone... ORPHA:2785
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Brachydactyly, Short distal... ORPHA:2787
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Facial diplegia, Diaphyseal sclerosis, Craniofacial hyperostosis, Macrocep... OMIM:122860
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Short stature, Long philtrum, Kyphoscoliosis, Osteoporosis, Thin vermilion border, Arachnodactyly... OMIM:614856
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... OMIM:277440
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Ie
Flat occiput, High, narrow palate, Upper limb undergrowth, Micrognathia, Smooth philtrum, Ankle f... OMIM:608799
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Congenital hypoparathyroidism, Hypocalcemic seizures, Long philtrum, Patchy osteosc... OMIM:241410
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Wide anterior fontanel, Increased circ... OMIM:617241
Trisomy 9P
Kyphosis, Short neck, Non-midline cleft lip, Downturned corners of mouth, Sacral dimple, Impacted... ORPHA:236
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Cleft soft palate, Abnor... ORPHA:2919
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Jaundice, Anemia of inadequate pr... ORPHA:231222
Premature Aging Syndrome, Penttinen Type
Micrognathia, Midface retrusion, Thin vermilion border, Wormian bones, Delayed eruption of teeth,... OMIM:601812
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Short stature ORPHA:2380
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... ORPHA:93314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Thin vermil... OMIM:156510
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Short ribs, Reduced bone mineral density, Cleft lip, Syn... ORPHA:1505
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Flat occiput, Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Ric... OMIM:264700
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Arthralgia of the hip, Osteoarthritis, Avascular necr... ORPHA:93308
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Hypodontia, Micrognathia, Failure to thrive, Thin vermilion border, Do... ORPHA:94063
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... OMIM:259610
Phosphoglycerate Dehydrogenase Deficiency
Growth delay, Adducted thumb, Megaloblastic anemia, Thrombocytopenia, Decreased testicular size OMIM:601815
Short stature, Irregular vertebral endplates, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1782
Zimmermann-Laband Syndrome
Hallux valgus, Micrognathia, Cleft palate, High palate, Overtubulated long bones, Hypodontia, Wid... ORPHA:3473
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Short stature, Leukemia, Metaphysea... ORPHA:811
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Osteoporosis OMIM:204730
Metatropic Dysplasia
Cleft palate, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abn... ORPHA:2635
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... ORPHA:436
Increased intervertebral space, Oligodontia, Delayed eruption of teeth, Absent frontal sinuses, P... OMIM:224300
Roifman Syndrome
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Broad femoral head, Hip contractu... ORPHA:353298
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Micrognathia, Oligodontia, Supernumerary tooth, Malar flattening, Small hand... ORPHA:1787
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Limb undergrowth... ORPHA:1423
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Sh... ORPHA:166277
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Cleft palate, Hip contracture, Talipes equinovarus, Skeletal muscle hypertr... ORPHA:800
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... OMIM:250460
Metatarsus adductus, Limb joint contracture, Increased circulating thyroglobulin level, Failure t... ORPHA:356961
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Gingival fibromatosi... ORPHA:3019
Frank-Ter Haar Syndrome
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Beaking of vertebral ... ORPHA:137834
Short Stature, Brussels Type
Growth delay, Short stature, Delayed epiphyseal ossification, Calcification of cartilage, Microre... ORPHA:2867
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Brachyceph... ORPHA:2097
Cone-shaped epiphysis, Short stature, Bowing of the long bones, Abnormality of the metaphysis, De... ORPHA:166272
Myopathy, Distal, 3
EMG: myopathic abnormalities, Joint contracture of the hand, Rimmed vacuoles, Split hand, Muscula... OMIM:610099
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Micrognathia, Long philtrum, Patchy osteoscler... ORPHA:2323
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteo... OMIM:166300
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Leukopenia, Biliary tract obstruction, Anemia, Osteopenia, Patho... ORPHA:77259
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... OMIM:619658
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular vo... OMIM:612561
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, Flat occiput, High palate, Submucous cleft hard palate, Supernumerary ... OMIM:617412
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy OMIM:613205
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Alopecia, Anemia, Spl... OMIM:603554
Hennekam Syndrome
Abnormal foot morphology, Lymphadenopathy, Lymphangioma, Delayed eruption of teeth, Splenomegaly,... ORPHA:2136
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Short philtrum, Talipes equinovarus, Small for gestational age, Failure to t... OMIM:607143
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Cleft palate, Hip contracture, Short stature, Malar flattening, Delayed epiphys... OMIM:601561
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Slender finger, Scoliosis, Hypoplasia of the odontoid process, Vertebral... OMIM:609813
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Jaundice,... OMIM:615631
Muscular dystrophy, limb-girdle, type 2R
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture OMIM:615325
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe OMIM:618453
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Telecanthus, Deviation of finger, Sh... OMIM:201000
Oculocerebrodental Syndrome
Hypercalcemia, Metaphyseal dysplasia, Microdontia, Oligodontia, Epicanthus, Short 5th finger, Ena... ORPHA:557003
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Cleft palate, Growth delay, Short stature, Cleft upper lip, Long fingers, Tent... OMIM:614294
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Failure to thrive, Slender build, Cubitus valgus, Disharmonious carpal... OMIM:608154
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, Brachycephaly, Supernumerary tooth, Malar flattening, Small ha... ORPHA:2108
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Carious teeth, Mandibular prognathia, Slender build, ... OMIM:131300
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Wormian bones, Osteopenia, Joint hypermobility, Abnormal... OMIM:610967
Growth Hormone Insensitivity Syndrome
Large fontanelles, Failure to thrive, Delayed eruption of teeth, Truncal obesity, Abnormality of ... ORPHA:181393
Pseudohypoparathyroidism Type 1C
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Increas... ORPHA:79444
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... OMIM:275595
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness, Coxa val... OMIM:616583
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Microcephaly OMIM:608432
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Metaphyseal dysplasia, Short long... ORPHA:93316
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Club-shaped distal femur, Delayed eruption of permanent teeth, Mandibular ... OMIM:218400
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Delayed closure of the anterior fontanelle, Hyperostosis, Increased susceptibility... OMIM:604922
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Growth delay, Increased mean corpuscular volume, Short stature, T... OMIM:612563
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Abnormality of the dentition, Short distal phalanx of finger, Hypoplasia of th... ORPHA:2776
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Protrusio acetabuli, Hypoplasia of... OMIM:259600
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Smooth philtrum, Genu varum, Short metatarsal, Malar flattening, Shor... OMIM:251450
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Hypoplasia of the radius, Abnorm... ORPHA:950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Roifman Syndrome
Hip contracture, Prominent eyelashes, Lymphadenopathy, Splenomegaly, Thin upper lip vermilion, Sh... OMIM:616651
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... ORPHA:69087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Flexion contractur... OMIM:613155
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Microdontia, Small for gestational age, Talipes equinovarus, Mandibula... OMIM:268400
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Congenital hip dislocation, Delayed eruption of teeth, W... OMIM:614450
Hypophosphatasia, Infantile
Decreased calvarial ossification, Short lower limbs, Hypercalcemia, Bowing of the legs, Failure t... OMIM:241500
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Short metacarpal, Supernumerary tooth ORPHA:627
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Intrauterine growth retardatio... ORPHA:2169
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Irregular vertebral e... OMIM:609223
Camurati-Engelmann Disease
Carious teeth, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, ... ORPHA:1328
Lethal Faciocardiomelic Dysplasia
Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... ORPHA:1972
Duplication Of The Pituitary Gland
Brachyturricephaly, Cleft palate, Wide mouth, Supernumerary tooth, Abnormality of the tongue, Mic... ORPHA:314621
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Short ribs, Advanced ossification of ... OMIM:215045
Ck Syndrome
Micrognathia, High palate, Slender build, Malar flattening, Abnormal cortical bone morphology, Ky... OMIM:300831
Classic Multiminicore Myopathy
High palate, Increased muscle lipid content, Weakness of facial musculature, Failure to thrive, M... ORPHA:324604
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Long fingers, Anemia, Hepatic steatosis, Long toe OMIM:615438
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Abnormality of the medullary cavity of the long bones, Small for gestational ... OMIM:127000
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, Epiphyseal dysplasi... OMIM:272460
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Catifa Syndrome
Cleft palate, Long philtrum, Mild microcephaly, Tooth malposition, Delayed eruption of teeth, Cle... OMIM:618761
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Disproportionate short stature, Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of... OMIM:609616
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Cleft palate, Smooth philtrum, High palat... OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Microcephaly, Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture OMIM:609308
Leri-Weill Dyschondrosteosis
Tibial bowing, Coxa valga, Radial bowing, Abnormal metatarsal morphology, High palate, Fibular hy... OMIM:127300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... OMIM:608840
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Singleton-Merten Syndrome 1
Carious teeth, Expanded metacarpals with widened medullary cavities, Smooth philtrum, Tendon rupt... OMIM:182250
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short stature, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shape... OMIM:190350
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Redu... ORPHA:2370
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Mild short stature, Increased susceptibility to fractures, ... OMIM:130060
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short dist... ORPHA:1858
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplasia of the odontoid process, Hy... OMIM:607326
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Broad toe, Telecanthus, Short ribs, Broad distal phalanges of all fingers, ... OMIM:218330
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Infertility, Short stature, Rickets, Decreased circulating IgA... OMIM:212750
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Short stature, Increased susceptib... OMIM:259450
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Small epiphyses, Intervertebral space narrowing, Long philtrum, Kyphoscolios... ORPHA:263463
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Premature loss of teeth, Anemia, Osteopenia, Splenomegaly, Gingivitis, Hyperparathy... OMIM:618107
Kniest Dysplasia
Cleft palate, Coronal cleft vertebrae, Hip contracture, Flattened, squared-off epiphyses of tubul... OMIM:156550
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Polydactyly, Cleft palate, Telecanthus, Syndactyly, ... OMIM:300484
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Lymphadenopathy, Polycythemia, Weight loss, Sclerosis of ... ORPHA:2905
Oncogenic Osteomalacia
Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasia of th... ORPHA:352540
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Short finger, Tapered finger, Platyspondyly, Knee flexion contracture, Kyphosis,... OMIM:313420
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Hall-Riggs Syndrome
Wide mouth, Short stature, Abnormality of epiphysis morphology, Failure to thrive, Abnormal denta... ORPHA:2107
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, Neutropenia, Thrombocytopenia, Leukopenia, Monocytosis, High palate, ... OMIM:612541
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Hypoplastic nipples, Epiphyseal stippling, Prominent calcaneus, Short rib... ORPHA:96334
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, Delayed eruption of permanent teeth, High palate, Macrocephaly, Everted lowe... OMIM:228560
Wt Limb-Blood Syndrome
Micrognathia, Hypoplastic anemia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Leuke... OMIM:194350
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Wormian bones, Delayed eruption of teeth,... ORPHA:2863
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Short stature, Metaphyseal irregularity, Epiphyseal dysplasia, ... ORPHA:93360
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Eosinophilia, Craniosynostosis, Osteopenia, Joint hypermobility, Persistence of prim... OMIM:147060
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Reduced... ORPHA:79443
Widely spaced teeth, Hepatomegaly, Open bite, Macroglossia, Mandibular prognathia, Bowing of the ... ORPHA:61
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Xerostomia, Decreased circulatin... ORPHA:227990
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Abnormality of epiphysis morpho... ORPHA:970
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, High palate, Open bite, Brachycephaly, Mandibular prognathia, Cubi... ORPHA:1327
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Thin vermilion border, Dela... OMIM:602557
Atelosteogenesis, Type Ii
Micrognathia, Short middle phalanx of finger, Cleft palate, Short greater sciatic notch, Increase... OMIM:256050
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Micrognathia, Intrauterine growth retardation, Severe pos... ORPHA:73272
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Anterior pituitary dysgenesis, Leukopenia, Apla... ORPHA:227982
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... OMIM:613818
Neu-Laxova Syndrome
Cleft palate, Rickets, Pterygium, Osteomalacia, Micrognathia, Aplasia/Hypoplasia involving the sk... ORPHA:2671
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Short stature, Bowing of the long bones, Tooth malposition, Abnorm... ORPHA:2484
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature OMIM:608278
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... ORPHA:93352
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Decreased calvarial ossification, Disproportionate short-limb short stature, P... OMIM:259440
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Abnormal joint morphology, Wormian bones, Platybasia, Moderate generalized osteoporosis, Abnormal... OMIM:166230
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Growth delay, Bowing of the legs, Rickets, Failu... OMIM:600081
Acromicric Dysplasia
Thick lower lip vermilion, Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Long philtru... OMIM:102370
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absent radius, Short tibia, Sh... OMIM:251230
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Double Outlet Right Ventricle
Hypoparathyroidism, Cleft palate, Narrow palpebral fissure, Submucous cleft hard palate, Failure ... ORPHA:3426
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Mal... ORPHA:2511
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Long upper lip, Short stature, Limited elbow extension, Elbow flexion contracture, ... ORPHA:93359
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Small epiphyses, Cervical instability, Laryngotracheomalacia, Abnorm... ORPHA:93346
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormality of long bone morphology, Short toe, Abnormality of pelvic girdle bone m... OMIM:259270
Momo Syndrome
Thick lower lip vermilion, Smooth philtrum, High palate, Long philtrum, Abnormal bone ossificatio... ORPHA:2563
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia OMIM:608971
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Limb undergrowth, Epicanthus, Genu recurvatum, Abnormality of the mouth, Hepatosplenomegaly, Shor... ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening... OMIM:608728
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Andersen Cardiodysrhythmic Periodic Paralysis
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Thin ... OMIM:170390
Short stature, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar met... ORPHA:85198
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Flat occiput, Cleft palate, Radioulnar synostosis, Infe... ORPHA:10
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Flexion contracture of toe, Short stature, Abnormality of epiphysis... ORPHA:3409
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... OMIM:253000
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Brachydactyly, Type E2
Oligodontia, Short stature, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Brachy... OMIM:613382
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cubitus valgus, Joint hyperflexibility, Congenital muscular dystrophy ORPHA:1875
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Sho... OMIM:103580
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... OMIM:253010
Ullrich Congenital Muscular Dystrophy 1
High palate, Increased laxity of ankles, Reduced muscle collagen VI, Talipes equinovarus, Failure... OMIM:254090
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Prominent calcaneus, Pes planus, Malar flattening, Toe clinodactyly, Lim... ORPHA:457395
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Metatarsus valgus, Skeletal musc... ORPHA:559
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity, Clinodactyly of the 5th toe ORPHA:99976
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Muscular dystrophy, Calf muscle pseudohypertrophy, Limited shoulder ... ORPHA:62
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Cleft palate, Dysplasia of the femoral head, Reduced bone mineral density... ORPHA:94068
Flat occiput, High, narrow palate, Micrognathia, Smooth philtrum, U-Shaped upper lip vermilion, F... ORPHA:79322
Myopathy, Myofibrillar, 6
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... OMIM:612954
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular volume, Neutrope... OMIM:612562
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Spinal canal stenosis, Genu varum, Tibial bowing, Growth delay, Short... ORPHA:289176
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Short metacarpal,... OMIM:612462
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Pulmonary hypoplasia, Abnormality of the lower limb, ... ORPHA:3035
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial suture closure... OMIM:175700
Gapo Syndrome
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Hypoplastic nipples, ... OMIM:230740
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Micrognathia, Sparse eyelashes OMIM:300946
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Decreased circulating antibody level, Acute myelomonocytic leukemia, Splenome... ORPHA:2585
Thymic Neuroendocrine Tumor
Hypercalcemia, Mediastinal lymphadenopathy, Pituitary null cell adenoma, Neoplasm of the thymus, ... ORPHA:97289
Hereditary Spherocytosis
Hepatomegaly, Growth delay, Anemia, Gout, Cholelithiasis, Splenomegaly, Extramedullary hematopoie... ORPHA:822
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular aplasia, Gingival overgr... ORPHA:1832
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Hypoplasia of the femoral head, Pne... OMIM:209950
Gorham-Stout Disease
Abnormality of ethmoid bone, Abnormality of femur morphology, Osteolysis involving bones of the l... ORPHA:73
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Abnormal dental enamel morphology, Delayed eruption of ... OMIM:257850
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Myopathy, Brachycephaly, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... ORPHA:272
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... ORPHA:1306
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... ORPHA:75508
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... OMIM:258850
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Hypodontia, Cleft palate, Microdontia, Short phi... ORPHA:3474
Three M Syndrome 2
High palate, Intrauterine growth retardation, Small for gestational age, Long philtrum, Short sta... OMIM:612921
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Diamond-Blackfan Anemia 11
Cleft palate, Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Hypoplasia of the ... OMIM:614900
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer OMIM:618852
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, T... OMIM:598500
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Fetal Akinesia Deformation Sequence 4
Micrognathia, High palate, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Retr... OMIM:618393
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Midface retrusion, Finger syndactyly, Elbow dislocation, Camptodactyly of f... ORPHA:1507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Sponastrime Dysplasia
Neutropenia, Metaphyseal irregularity, Pes planus, Obtuse angle of mandible, Short dental root, S... ORPHA:93357
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... ORPHA:363417
Mucopolysaccharidosis Type 4
Carious teeth, Spinal canal stenosis, Wide mouth, Short stature, Abnormality of epiphysis morphol... ORPHA:582
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Tapered finger, Short stature, Kyphosis, Everted lower lip vermilion, Obesity, Scoli... ORPHA:276630
Codas Syndrome
Coronal cleft vertebrae, Short stature, Abnormality of epiphysis morphology, Abnormal form of the... ORPHA:1458
Laron Syndrome
Micrognathia, Microdontia, Abnormality of the elbow, Delayed eruption of teeth, Truncal obesity, ... ORPHA:633
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
Orofaciodigital Syndrome I
Carious teeth, Cleft palate, High palate, Polydactyly, Alveolar ridge overgrowth, Tongue nodules,... OMIM:311200
Majeed Syndrome
Growth delay, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, Flexio... OMIM:609628
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Smooth philtrum, High palate, Alveolar ri... ORPHA:1655
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Microcephaly OMIM:602541
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnormal bone... ORPHA:249
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Syno... ORPHA:1106
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Jaundice, Calvarial hyperostosis, ... OMIM:612714
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, High palate, Minicore myopathy, Failure to thriv... OMIM:602771
Otopalatodigital Syndrome Type 2
Cleft palate, Pierre-Robin sequence, Oligodontia, Malar flattening, Increased bone mineral densit... ORPHA:90652
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... OMIM:118400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Temple-Baraitser Syndrome
Bilateral ptosis, Malar flattening, Delayed eruption of teeth, Long hallux, Everted upper lip ver... ORPHA:420561
Rhizomelic Chondrodysplasia Punctata, Type 1
Micrognathia, Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Rhizom... OMIM:215100
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Upslanted palpebral fissure, Rhizomelia, Epi... ORPHA:166016
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Cleft palate, Pulmonary hypoplasia, Hamartoma of ... OMIM:617925
Cole-Carpenter Syndrome
Micrognathia, Intrauterine growth retardation, Short stature, Bowing of the long bones, Abnormal ... ORPHA:2050
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Premature loss of teeth, Hydroxyprolinemia, Bowing of the long bones, Osteoporosis, Hy... OMIM:239000
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Tibial bowing, Multiple prenatal fractures, Wormi... OMIM:259420
Distal Monosomy 12Q
2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Microglossia, Broad hallux, ... ORPHA:96149
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging,... OMIM:158901
Autosomal Dominant Robinow Syndrome
Oligodontia, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micrognathia, Hypodon... ORPHA:3107
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Neoplasm of the lung, Neoplasm of the pancreas, Abnormality of the meta... ORPHA:2591
Hypophosphatasia, Adult
Carious teeth, Premature loss of permanent teeth, Rickets, Increased susceptibility to fractures,... OMIM:146300
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Coffin-Siris Syndrome 10
Persistence of primary teeth, Clinodactyly, Wide mouth, Microcephaly OMIM:618506
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Short stature, Small for gestational age, Kyphosis ORPHA:85288
Rothmund-Thomson Syndrome Type 2
Carious teeth, Genu varum, Neutropenia, Cleft palate, Leukemia, Abnormal dental enamel morphology... ORPHA:221016
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Ring Chromosome 10 Syndrome
Micrognathia, Cachexia, Tapered finger, Long philtrum, Thin vermilion border, Downslanted palpebr... ORPHA:1438
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... ORPHA:36913
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Ca... OMIM:101800
Orofaciodigital Syndrome Ix
Toe syndactyly, Cleft palate, Recurrent aspiration pneumonia, High palate, Accessory oral frenulu... OMIM:258865
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... ORPHA:397973
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Talipes equinovarus, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad p... OMIM:616354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture OMIM:613723
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Growth delay, Bowing of the legs, Rickets, Failu... OMIM:241530
3M Syndrome
Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Increased vertebral ... ORPHA:2616
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Intrauterine growth retardation OMIM:615578
X-Linked Hypophosphatemia
Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... ORPHA:89936
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
X-Linked Non-Syndromic Intellectual Disability
Thick lower lip vermilion, 2-3 toe syndactyly, Midface retrusion, Small for gestational age, Long... ORPHA:777
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Talipes equinovarus, Skeletal muscle hypertrophy, Flexion contracture OMIM:611588
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Growth delay, Short stature, Erythroid hypoplasia, Reticulocytopenia OMIM:612527
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Premature loss of teeth, Growth delay, Proportionate short s... OMIM:619269
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia, Osteolysis ORPHA:158014
Rothmund-Thomson Syndrome Type 1
Carious teeth, Genu varum, Neutropenia, Leukemia, Abnormal dental enamel morphology, Delayed erup... ORPHA:221008
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Increased circulat... OMIM:618534
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... OMIM:201170
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Antley-Bixler Syndrome
Cleft palate, Elbow ankylosis, Long philtrum, Brachycephaly, Narrow pelvis bone, Craniosynostosis... ORPHA:83
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Abnormal palate morph... ORPHA:1540
Cole-Carpenter Syndrome 2
High palate, Wormian bones, Osteopenia, Narrow iliac wing, Frontal bossing, Macrocephaly, Dentino... OMIM:616294
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Microcephaly, Narrow... OMIM:612447
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, A... ORPHA:417
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Rhizomelic Syndrome, Urbach Type
Micrognathia, High palate, Cleft palate, Triphalangeal thumb, Short stature, Abnormality of epiph... ORPHA:3098
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Weight loss, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus, Short stature ORPHA:49827
Minicore Myopathy With External Ophthalmoplegia