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,  Ly109l,  OPGL,  osteoclast differentiation factor,  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
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... OMIM:607634
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology 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
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Macrocephaly, Hepatomegaly... OMIM:259700
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth 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
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Increased bone mineral density OMIM:166450
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia OMIM:190320
Increased bone mineral density OMIM:265880
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... OMIM:259710
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Macrocephaly, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Severe short stature, Craniosynostosis, Micrognathia,... ORPHA:2645
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... OMIM:611490
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly, Microcephaly, Abnormality of limb bon... ORPHA:2204
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Mueller-Weiss Syndrome
Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi... ORPHA:566943
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Macrocep... ORPHA:53
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Choles... ORPHA:172
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... ORPHA:1802
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o... ORPHA:564003
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... ORPHA:1452
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hip subluxation, Pancytopenia, Cranial hyperostosis, Increased bone mineral density... OMIM:259720
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density... ORPHA:2780
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Macrocephaly, Increased bone mineral density, Craniosynostosis, Broad jaw, Facial palsy ORPHA:178377
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Mandibular prognathia, Abnorma... ORPHA:2790
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Macrocephaly, Hepatomegaly, Hypophosphatemia, Pulmonary artery stenosis, Spl... ORPHA:667
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Failure to thrive, Narrow mouth, Macrocephaly, Anomalous pulmonary venous return, Increased bone ... ORPHA:35107
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple... OMIM:273050
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... OMIM:112350
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Osteopetrosis, Splenomegaly, Growth delay, Intrauterine growth retar... OMIM:618541
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short stature, Short philtrum, Platyspondyly, Cone-shaped epiphysis, D... ORPHA:71267
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... OMIM:311300
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Increased head ci... OMIM:612301
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-limb short stature,... OMIM:222600
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S... ORPHA:63442
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetr... OMIM:259730
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... OMIM:168400
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Microcephaly, Diaphragmatic eventration, Delayed eruption of teeth OMIM:600252
Acrootoocular Syndrome
Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, High, narrow palate, Micrognathia, S... ORPHA:2980
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Abnormality of the dentition, Anisocytosis, Abnormality of iro... ORPHA:231226
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic... OMIM:602361
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Short clavicles, Hypodontia, Reduced bone mineral density, Microg... OMIM:619322
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... ORPHA:93324
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Gingival overgrowth, Extra... ORPHA:313855
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Abn... ORPHA:93160
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... OMIM:618728
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Tooth malposition, Failure of eruption of permanent te... ORPHA:3238
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... ORPHA:231214
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Small hand, Anemia, Congenital hypoparathyroidism, Slender long bon... OMIM:244460
Ollier Disease
Joint stiffness, Lymphangioma, Platyspondyly, Micromelia, Abnormal cartilage morphology, Osteolys... ORPHA:296
Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Trichorhinophalangeal Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Joint dislocation, Abnor... ORPHA:502
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Osteopenia, Flared metap... OMIM:619073
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi... OMIM:613849
Diastrophic Dysplasia
Macrocephaly, Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar ... ORPHA:628
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... OMIM:604757
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... ORPHA:37748
Winchester Syndrome
Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo... OMIM:277950
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Widely spaced... ORPHA:3352
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens... OMIM:136300
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... OMIM:264475
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... OMIM:234250
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the long bones, Mandibular pr... OMIM:166250
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... OMIM:184260
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Macrocephaly, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly OMIM:618476
Childhood onset short-limb short stature, Lumbar hyperlordosis, Malar flattening, Flared metaphys... OMIM:146000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... OMIM:618392
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of... ORPHA:3145
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Macrocephaly, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of... ORPHA:2658
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... OMIM:612350
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... ORPHA:289157
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of femur morphology, Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, ... ORPHA:2063
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin... OMIM:119600
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Short stature, Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypopla... OMIM:612463
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, Malar flattenin... ORPHA:2769
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Oligodontia, S... OMIM:618440
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... ORPHA:94089
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... OMIM:156530
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Upslanted palpebral fissure,... ORPHA:1133
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99977
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Macrocephaly, Broad long bones, Wide anterior fontanel, Mal... OMIM:269300
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse eyebrow, Abnormally ossified vertebrae, Micromelia, Abnormality of the pancr... ORPHA:175
Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Spondylo... OMIM:265800
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... ORPHA:89937
Majeed Syndrome
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral ... ORPHA:77297
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... OMIM:113300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Slanting of the palpebral fissure, Abnormality of the dentition, Tapered finger, Pri... ORPHA:476126
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Hypocalcemia, Glossoptosis, Abnormality of the lymph... ORPHA:47
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Pectoralis amyotrophy, Flexion contracture, Calf... ORPHA:267
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Short distal phalanx of finger, Clinodactyly of the 5th finger, Supernumerary tooth,... ORPHA:77258
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Platyspondyly, Anisospondyly, Hemiatrophy of upper lim... ORPHA:163649
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Rothmund-Thomson Syndrome
Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, ... ORPHA:2909
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm... ORPHA:93308
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Abnormality of the dentition, Oligodontia, Brachydactyly, Short 5th metacarpal ORPHA:1264
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... OMIM:231095
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D... OMIM:617241
Osteopetrosis With Renal Tubular Acidosis
High palate, Hepatomegaly, Abnormality of the dentition, Pancytopenia, Bone marrow hypocellularit... ORPHA:2785
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Sh... OMIM:614856
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Osteopenia, Hypogonadotropic hypogonadism, Diastema, Micr... OMIM:619718
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Impacted tooth, Short neck, Scoliosis, Brachydactyly, D... ORPHA:236
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Cryptorchidism, Decreased response to growth hormone stimulation test, Small hand, ... OMIM:241410
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Failure to thrive, Mal... OMIM:614727
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Obtuse angle of mandible, Wide anterior fontanel, Macrocephaly, Increased bone miner... ORPHA:85184
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Short stature ORPHA:2380
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
12Q14 Microdeletion Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Thick eyebrow, Hypodontia, Thin vermilion bord... ORPHA:94063
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short l... ORPHA:1505
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... OMIM:156510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti... ORPHA:1782
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Adducted thumb, Decreased testicular size, Growth delay, Thrombocytopenia OMIM:601815
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... ORPHA:3473
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, High, narrow palate, Small hand, Micrognathia, Muscular dystrophy, Upper limb ... OMIM:608799
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Em... ORPHA:436
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Osteoporosis OMIM:204730
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Craniofacial osteosclero... OMIM:122860
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of... ORPHA:811
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... ORPHA:353298
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... ORPHA:1798
Glycerol Kinase Deficiency
Small for gestational age, Muscular dystrophy, Osteoporosis, Pathologic fracture, Downturned corn... OMIM:307030
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Metatropic Dysplasia
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... ORPHA:2635
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Genu valgum, A... ORPHA:800
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... ORPHA:1423
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyebrow, Femoral bowing, Macrocytic anemia, Neonatal short-limb short stature... OMIM:250250
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morpholo... ORPHA:3344
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin level, Short tibia, Ap... ORPHA:356961
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy ORPHA:100024
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Microcephaly, Brachydactyly, Osteoporosis, Wormian bones, Joint h... ORPHA:2787
Short Stature, Brussels Type
Delayed epiphyseal ossification, Microretrognathia, Short stature, Calcification of cartilage, Gr... ORPHA:2867
Frank-Ter Haar Syndrome
Joint stiffness, Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of v... ORPHA:137834
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Sco... ORPHA:166272
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, Abnormal dental enam... ORPHA:3019
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Metaphyseal irregular... OMIM:277440
Gaucher Disease Type 1
Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... ORPHA:77259
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, ... OMIM:264700
Diamond-Blackfan Anemia 6
Cleft upper lip, Increased mean corpuscular volume, Cleft palate, Tracheomalacia, Retrognathia, M... OMIM:612561
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypocalcemia, Small hand, Abnormality of the dentition, Microcephaly, Microgn... ORPHA:2323
Omenn Syndrome
Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto... OMIM:603554
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Multiminicore Myopathy
Joint stiffness, Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in... ORPHA:598
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Muscular Dystrophy, Congenital, Lmna-Related
Congenital muscular dystrophy, Failure to thrive, Generalized amyotrophy, Flexion contracture OMIM:613205
Hennekam Syndrome
Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of teeth, Tooth agenesis, Spleno... ORPHA:2136
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... OMIM:613156
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Short stature, Camptodactyly, Short thumb OMIM:618453
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, D... OMIM:601812
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Sho... ORPHA:557003
Stuve-Wiedemann Syndrome 1
Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Pulmonary hypoplasia, Cont... OMIM:601559
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Malar flattening, Cleft palate, Short stature, ... OMIM:601561
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short femur, Hypoplasi... OMIM:607143
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, A... OMIM:224120
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... ORPHA:93316
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fr... ORPHA:166277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Macroglossia, Muscular dystrophy, Microcephaly, Congenital muscular dystroph... OMIM:613155
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Increased mean corpuscular volume, Short stature, Macrocytic anemia, N... OMIM:612563
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5... ORPHA:1972
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis OMIM:618234
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Rocker bottom foot, Flexion contracture, Micrognathia, ... OMIM:214150
Roifman Syndrome
Hepatomegaly, Prominent eyelashes, Downslanted palpebral fissures, Clinodactyly of the 5th finger... OMIM:616651
Hypophosphatasia, Infantile
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Short ribs, Craniosynostosis, Abnorma... OMIM:241500
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Microretrognat... ORPHA:324604
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc... OMIM:251450
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Mandibular prognathia ORPHA:627
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 6
Relative macrocephaly, Macroglossia, Increased body mass index, Congenital hip dislocation, Delay... OMIM:614450
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... ORPHA:1328
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Syndactyly, Osteoporosis, Macrocytic anemia, Clin... ORPHA:2169
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... OMIM:616583
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... ORPHA:1787
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Growth Hormone Insensitivity Syndrome
Failure to thrive, Everted lower lip vermilion, Microcephaly, Delayed eruption of teeth, Truncal ... ORPHA:181393
Infantile Liver Failure Syndrome 1
Hepatomegaly, Long toe, Long fingers, Macrocytic anemia, Anemia, Hepatic steatosis OMIM:615438
Hallermann-Streiff Syndrome
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... OMIM:234100
Ck Syndrome
High palate, Kyphosis, Slender build, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hy... OMIM:300831
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... OMIM:619795
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Macrocephaly, Hypocalcemia, Increased bone mineral density, Small for gestati... OMIM:127000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... OMIM:215045
Leri-Weill Dyschondrosteosis
High palate, Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valg... OMIM:127300
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Short neck, Disproportionate short-trunk short stature, Block vertebrae, Vertebral ... OMIM:272460
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metatarsal osteolysis, Micrognathia... OMIM:166300
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microcephaly, Cam... OMIM:618761
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, M... OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Microcephaly, Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture OMIM:609308
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Increased endomysial connective tissue, Flexion contracture, Muscular ... OMIM:617072
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Cutaneous finger syndactyly, Delayed crani... OMIM:113000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la... OMIM:130060
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Microcephaly, ... OMIM:617412
Grant Syndrome
Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibil... ORPHA:2097
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Growth delay, Hypersegmentation of neutrophil nuclei OMIM:229100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Talipes equinovarus, Small for gestational age, Small hand, Mic... OMIM:268400
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Folate Malabsorption, Hereditary
Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Anterior... OMIM:610967
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Macrocephaly, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-... OMIM:218400
Hallermann-Streiff Syndrome
Abnormality of the fontanelles or cranial sutures, Recurrent fractures, Abnormality of the tongue... ORPHA:2108
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal sclerosis, Polycythemia, Sclerosis o... ORPHA:2905
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor... OMIM:190350
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxat... OMIM:259600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Short stature, Abnormality of the ... ORPHA:1858
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Tendon rupture, Osteopenia, Carious teeth, ... OMIM:182250
Celiac Disease, Susceptibility To, 1
Infertility, Decreased circulating IgA level, Alopecia, Short stature, Rickets, Osteoporosis, Mac... OMIM:212750
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Recurrent aspiratio... OMIM:300484
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi... OMIM:604922
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Metaphyseal irregu... OMIM:607326
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Dental malocclusion, Gingival overgrowth, Macrocephaly, Narrow palate, Hepatomegaly, Macroglossia... ORPHA:61
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... ORPHA:352540
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Wt Limb-Blood Syndrome
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln... OMIM:194350
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus, Increased su... OMIM:619752
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma... ORPHA:263463
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Fibromatosis, Gingival, With Distinctive Facies
High palate, Macrocephaly, Persistence of primary teeth, Everted lower lip vermilion, Gingival fi... OMIM:228560
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S... ORPHA:79443
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Osteopetrosis, Autosomal Dominant 3
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... OMIM:618107
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Lumbar hyperl... OMIM:602557
Kniest Dysplasia
Cleft palate, Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic ... OMIM:156550
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... OMIM:147060
Bruck Syndrome 1
Hip contracture, Kyphosis, Coxa vara, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Prot... OMIM:259450
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Ena... OMIM:103580
Cranioectodermal Dysplasia 1
High palate, Hepatomegaly, Microdontia, Malformation of the hepatic ductal plate, Hepatic cysts, ... OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... OMIM:608840
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... OMIM:313420
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... OMIM:301078
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed erupti... ORPHA:2863
Hall-Riggs Syndrome
Joint stiffness, Wide mouth, Failure to thrive, Short stature, Platyspondyly, Scoliosis, Delayed ... ORPHA:2107
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature OMIM:608278
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Dentinogenesis imperfec... OMIM:259440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Macrocephaly, Decreased response to growth hormone s... OMIM:614732
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy, Clinodactyly of the 5th toe ORPHA:99976
Acromicric Dysplasia
Narrow mouth, Fifth metacarpal with ulnar notch, Severe short stature, Short metacarpal, Cone-sha... OMIM:102370
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... ORPHA:93359
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Delayed eruption of ... ORPHA:2025
Autoimmune Polyendocrinopathy Type 4
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerostomia, Autoimmune... ORPHA:227990
Rigid Spine Muscular Dystrophy 1
High palate, Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Fl... OMIM:602771
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Micrognathia, Campt... ORPHA:3409
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Malar flattening, Cleft palate, Horizont... OMIM:256050
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ... ORPHA:73272
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, ... OMIM:613818
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Cubitus valgus, Joint hyperflexibility, Hypogonadism ORPHA:1875
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... OMIM:253010
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerost... ORPHA:227982
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Ullrich Congenital Muscular Dystrophy 1
High palate, Muscle fiber necrosis, Torticollis, Slender build, Failure to thrive, Talipes equino... OMIM:254090
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... ORPHA:950
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Cr... OMIM:251230
Neu-Laxova Syndrome
Cleft palate, Osteopenia, Micromelia, Hypogonadism, Pterygium, Trismus, Skeletal muscle atrophy, ... ORPHA:2671
Brachydactyly, Type E2
Short stature, Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short met... OMIM:613382
Paget Disease Of Bone 5, Juvenile-Onset
Premature loss of teeth, Failure to thrive, Macrocephaly, Relative macrocephaly, Increased bone m... OMIM:239000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Marinesco-Sjögren Syndrome
Abnormality of finger, Coxa valga, Microcephaly, Muscular dystrophy, Hip dysplasia, Avascular nec... ORPHA:559
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limited shoulder movement, A... ORPHA:62
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... ORPHA:85198
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... ORPHA:457395
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Cleft palate, Osteopenia, Osteoporosis, Macrocytic anemia, Tri... OMIM:612562
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... OMIM:612954
48,Xxyy Syndrome
Infertility, Taurodontia, Clinodactyly of the 5th finger, Azoospermia, Cleft palate, Open bite, H... ORPHA:10
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, H... OMIM:612462
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Gapo Syndrome
Wide anterior fontanel, Eruption failure, Hepatomegaly, High, narrow palate, Sparse eyebrow, Spar... OMIM:230740
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, D... ORPHA:94068
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Upslante... ORPHA:3035
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, Ti... ORPHA:289176
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Sparse eyelashes, Macrocytic anemia OMIM:300946
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Cari... OMIM:226670
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Genu recurvatum, Hepatosplenomegaly, Brachydactyly, Limb undergrowth, Epicanthus, Short long bone ORPHA:221054
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Chronic noninfectious lymphadenopathy, Osteopenia... ORPHA:97289
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Duplication Of The Pituitary Gland
Abnormality of joint mobility, Wide mouth, Abnormality of the tongue, Decreased body weight, Supe... ORPHA:314621
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Short stature, Abnorma... ORPHA:582
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Anodontia, Everted lower lip vermilion, Short stature, Oligodontia, Scoliosis, Tapered ... ORPHA:276630
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... OMIM:612714
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... OMIM:618393
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Retrognathia, Micrognathia, Microcephaly, Delayed cranial suture closure, Gi... ORPHA:1832
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy OMIM:618852
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... ORPHA:1327
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Malar flattening, S... OMIM:612921
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Cleft palate, Absent thumb, Hypoplasia of the radius, Short stat... OMIM:614900
Temple-Baraitser Syndrome
High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T... ORPHA:420561
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... ORPHA:1106
U-Shaped upper lip vermilion, Failure to thrive, Long hallux, High, narrow palate, Micrognathia, ... ORPHA:79322
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Micrognathia, Broad phalanx, Broad metatarsal, Prominent metopic ridge OMIM:275595
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... OMIM:253000
Autosomal Recessive Robinow Syndrome
Wide mouth, Macrocephaly, Abnormality of the dentition, Short philtrum, Tented upper lip vermilio... ORPHA:1507
Orofaciodigital Syndrome Iii
Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand polyda... OMIM:258850
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Laron Syndrome
Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth... ORPHA:633
Muscular Dystrophy, Congenital, Megaconial Type
Microcephaly, Muscular dystrophy, Congenital muscular dystrophy, Facial palsy, Myopathy OMIM:602541
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Narrow mouth, Hypocalcemia, Abnormality of cartilage of ex... ORPHA:3426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... OMIM:608940
Codas Syndrome
Short metacarpal, Short stature, Congenital hip dislocation, Scoliosis, Delayed eruption of teeth... ORPHA:1458
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... OMIM:598500
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Extramedullary hematop... ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly... ORPHA:1655
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the nasal bone, Genu valgum... ORPHA:93357
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Kyphosis, Narrow mouth, Short stature, Tongue fasciculations, Hip dysplasia OMIM:620007
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... OMIM:118400
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased circulating IgA lev... OMIM:601859
Gorham-Stout Disease
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Lymphangioma, Abnormal b... ORPHA:73
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Severe short stature, Cleft palate, Flexion contracture, Malar flattening, Microg... OMIM:215100
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Pneumonia, Failure to thrive secondary... OMIM:608971
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Short stature, Micrognathia, Scoliosis, Delayed eruption of teeth,... ORPHA:2050
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra... OMIM:609628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Microceph... OMIM:606612
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Cleft palate, Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible mor... OMIM:217150
Coffin-Siris Syndrome 10
Wide mouth, Microcephaly, Persistence of primary teeth, Clinodactyly OMIM:618506
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Malar flattening, Delayed cranial suture closure, Microc... ORPHA:2511
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Congenital bilateral hip dislocation, Small for gestational age ORPHA:85288
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... OMIM:158901
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... OMIM:101800
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Otopalatodigital Syndrome Type 2
Cleft palate, Downslanted palpebral fissures, Pulmonary hypoplasia, Bowing of the long bones, Car... ORPHA:90652
Chime Syndrome
Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, A... ORPHA:3474
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... OMIM:617925
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Short tibia, Microcephaly, Abnormality of the... OMIM:258865
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Abnormal abdomen ... OMIM:241530
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Infantile Myofibromatosis
Neoplasm of the pancreas, Bone cyst, Neoplasm of the lung, Gingival fibromatosis, Osteolysis, Hyp... ORPHA:2591
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Minicore Myopathy With External Ophthalmoplegia
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:255320
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... ORPHA:36913
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Cleft palate, Sparse eyebrow, Short stature, Micrognathia, Bifid uvula, Macrocy... OMIM:606164
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Kniest Dysplasia
Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Disproportionate short-tr... ORPHA:485
Hypophosphatasia, Adult
Recurrent fractures, Premature loss of primary teeth, Osteomalacia, Premature loss of permanent t... OMIM:146300
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Tibial bowing, Dentinogenesis imperfecta, Disproportionate short-l... OMIM:259420
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Macrocytic anemia OMIM:615578
Immunodeficiency 64
Increased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Cervical lymphade... OMIM:618534
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Cervical C2/C3 vertebral fusion, Supernumerary tooth, Malar fla... OMIM:211380
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Macrocephaly, Cone-shaped epiphyses of the 4th toe, Cone-shape... ORPHA:397973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture OMIM:613723
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Ring Chromosome 10 Syndrome
Hypocalcemia, Thin vermilion border, Micrognathia, Cachexia, Long philtrum, Tapered finger, Downs... ORPHA:1438
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Hypertrichosis, Short stature, Hepatosplenomegaly, Hypothyroidism, Deep philtrum, Mi... OMIM:619750
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Cleft palate, S... ORPHA:3098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Talipes equinovarus, Flexion contracture, Skeletal muscle hypertrophy OMIM:611588
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Spars... ORPHA:221016
Craniosynostosis And Dental Anomalies
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, 2-3 toe syndactyly, Coronal... OMIM:614188
Diamond-Blackfan Anemia 4
Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia OMIM:612527
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Relative macrocephaly, Talipes equinovarus, Macroglossia, Long phil... OMIM:616354
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Talipes equinovarus, Macroglossia, Triangular tongue, Muscular dystrophy, Calf muscle hypertrophy... OMIM:616827
Pitt-Hopkins Syndrome
Abnormal palate morphology, Wide mouth, Failure to thrive, Growth delay, Tooth malposition, Failu... ORPHA:2896
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula... ORPHA:2325
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short ti... OMIM:201170
3M Syndrome
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of the ulna, Hypopl... ORPHA:2616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Microcephaly, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cleft palate OMIM:615350
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
48,Xxxy Syndrome
Cleft palate, Abnormal social behavior, Down-sloping shoulders, Delayed eruption of teeth, Cariou... ORPHA:96263
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... OMIM:612447
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... OMIM:619269
Essential Thrombocythemia
Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Orofaciodigital Syndrome Type 10
Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus, Oligodactyl... ORPHA:2756
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Short stature, Thrombocytopenia, Diabetes mellitus