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Gene: Ttc28 MGI:2140873

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Gene Summary

Name:
tetratricopeptide repeat domain 28
Synonyms:
TPRBK,  2310015L07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
decreased body length Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 8.74×10-10
increased lymphocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.61×10-05
decreased bone mineral density Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 3.63×10-05
increased red blood cell distribution width Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 5.17×10-14
preweaning lethality, incomplete penetrance Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal vertebrae morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
abnormal pelvic girdle bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.69×10-10
decreased prepulse inhibition Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.17×10-06
increased grip strength Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.49×10-12
abnormal cranium morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 7.41×10-12
decreased circulating cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.93×10-08
increased leukocyte cell number Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 4.58×10-06
decreased circulating HDL cholesterol level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 4.98×10-11
abnormal zygomatic bone morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
short tibia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 1.56×10-12
abnormal maxilla morphology Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
increased circulating alkaline phosphatase level Ttc28tm1b(EUCOMM)Hmgu HOM Early adult 7.56×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

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8 Images

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Histopathology

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6 Images

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Human diseases caused by Ttc28 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttc28 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Delayed skeletal maturation, ... ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho... OMIM:118651
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Hypocholesterolemia, Erlenm... OMIM:610539
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor... ORPHA:93315
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... OMIM:156510
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... OMIM:256050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Camptodactyly, Retrognathia OMIM:604273
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Pes planus, Genu recurvatum, Talipes, Camptodactyly... ORPHA:915
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Femoral bowing, Knee flexion contracture, Tibial bowin... OMIM:601559
Slc35A2-Cdg
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... ORPHA:356961
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... ORPHA:1159
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... OMIM:606612
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Micrognathia, Elbow flexion contracture, Decreased ... OMIM:618156
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Malar prominence, Fused cervical vertebrae, Ab... ORPHA:2522
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Plantar pits, Hemivertebr... ORPHA:377
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Osteogenesis Imperfecta, Type V
Osteopenia, Pes planus, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractur... OMIM:610967
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... OMIM:224120
Diaphanospondylodysostosis
Short neck, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Ky... ORPHA:2916
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Short 5th finger, Sco... OMIM:615583
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Potocki-Lupski Syndrome
Mandibular prognathia, Micrognathia, Dental malocclusion, Scoliosis, Hypocholesterolemia OMIM:610883
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... OMIM:166300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Atelosteogenesis Type Iii
Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... ORPHA:2345
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dent... OMIM:608940
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... OMIM:178110
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... OMIM:612447
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... OMIM:605274
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn... ORPHA:1988
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly ORPHA:1445
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... OMIM:231070
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma... OMIM:201000
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... OMIM:122600
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, ... ORPHA:439822
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... OMIM:616300
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Pes planus, Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit... OMIM:618000
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... OMIM:607143
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Delayed skeletal maturation, Genu valgum, Slender long bon... OMIM:608154
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Her... OMIM:601216
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Tapered finger, Micrognat... OMIM:216550
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... OMIM:144750
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Malar flattening, Hy... OMIM:266510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Microg... ORPHA:90652
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... OMIM:258315
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... OMIM:616549
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphy... ORPHA:90653
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Increased bone mineral density, Wo... ORPHA:1798
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Short neck, Hypoplasia of the maxilla, Flexion contracture, ... ORPHA:96334
Alg12-Cdg
Hyponatremia, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia... ORPHA:79324
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl... ORPHA:1452
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... OMIM:265000
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... ORPHA:1826
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger ORPHA:2776
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pe... OMIM:123000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Micrognathia, Short neck, Preaxial polydactyly, Hypoplastic p... OMIM:617925
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... OMIM:607634
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... OMIM:616834
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... OMIM:612852
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Abnormal circulating ... ORPHA:79277
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... OMIM:101800
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat... OMIM:222765
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... OMIM:620099
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, J... ORPHA:96169
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... ORPHA:1724
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian... OMIM:130720
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... ORPHA:198
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Kyphoscoliosis, Acanthocyto... ORPHA:14
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the ve... OMIM:166600
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Plantar pits, Ir... OMIM:109400
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... ORPHA:397973
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... ORPHA:314795
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micrognathia, Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Keipert Syndrome
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop... ORPHA:2662
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... ORPHA:958
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Talipes equinovarus, Short pa... ORPHA:85279
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy... ORPHA:2751
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex... ORPHA:776
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Deviation of f... ORPHA:2412
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hy... ORPHA:2097
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Impair... OMIM:250250
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abn... ORPHA:93262
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplasia... OMIM:139210
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly OMIM:246560
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnormal pel... OMIM:167320
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... ORPHA:1529
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... ORPHA:710
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pes planus, Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Sacral di... OMIM:213980
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:277440
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteom... OMIM:209950
Martsolf Syndrome 1
Joint laxity, Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathi... OMIM:212720
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m... ORPHA:1458
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... OMIM:259420
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone ... ORPHA:93160
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Long foot OMIM:300676
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Flexion contracture, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Hypochol... OMIM:212065
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Coxa valga... OMIM:614753
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... OMIM:206920
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Positional foot deformity, Hi... OMIM:610443
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ovoid vertebral bodies, Micrognathia, Metatarsus adductus, Carious te... OMIM:244450
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Short neck, Hypopl... OMIM:305400
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviat... OMIM:136760
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Chylomicron Retention Disease
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Hypoplasia... ORPHA:193
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... OMIM:600002
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... OMIM:164900
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Aplastic anemia, Micrognathia, ... OMIM:223370
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, S... ORPHA:289176
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Neutro... OMIM:609053
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy... ORPHA:245
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Coffin-Lowry Syndrome
Delayed eruption of teeth, Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the me... ORPHA:192
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Trismus, Hyperextensib... OMIM:227330
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Tracheoma... OMIM:601390
Mohr Syndrome
Syndactyly, Wormian bones, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po... OMIM:252100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... OMIM:224690
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Moebius Syndrome
Syndactyly, Pes planus, Brachydactyly, Micrognathia, Short neck, Split hand, Abnormal pelvic gird... OMIM:157900
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... OMIM:601812
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... OMIM:210600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe synda... ORPHA:373
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th... ORPHA:508498
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... ORPHA:233
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... ORPHA:3429
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... OMIM:600920
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia OMIM:601809
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad hallux phalanx, Malar flattening, Broad thumb ORPHA:261295
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala... OMIM:109120
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu... OMIM:615546
Omodysplasia 2
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... OMIM:164745
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contrac... ORPHA:481152
Kagami-Ogata Syndrome
Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Splenomegaly, Flexion contracture, Hypopl... OMIM:608149
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Elevated 8-dehydrocholesterol, Ele... OMIM:302960
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Pseudoep... OMIM:194190
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... OMIM:257850
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost... ORPHA:289157
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Cu... OMIM:148050
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300554
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Recon Progeroid Syndrome
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Thromboc... OMIM:620370
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... OMIM:607323
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... OMIM:613848
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Splenomegaly... ORPHA:1133
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, R... OMIM:620157
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Pes planus, Joint laxity, Genu recurvatum, Arachnodactyly, Craniosynostosis, Microgna... OMIM:182212
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... ORPHA:3145
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... OMIM:119800
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin... ORPHA:50814
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... OMIM:259720
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Joint st... ORPHA:83
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... OMIM:271520
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... ORPHA:352540
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... OMIM:166210
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Bifid distal p... ORPHA:97360
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Andersen-Tawil Syndrome
Joint laxity, Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence o... ORPHA:37553
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Hip dislocation, Radiouln... OMIM:265050
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Hip dysplasia, Scoliosis... ORPHA:50
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop... ORPHA:319171
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus OMIM:618302
Prolidase Deficiency
Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Genu valgum, Reduced bone mineral dens... ORPHA:742
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Ele... OMIM:614886
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of primar... ORPHA:2409
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... OMIM:617159
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Delayed skeletal maturation, Hypose... OMIM:614800
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Flexion contractur... OMIM:300534
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Low back pain, Pancytopenia, Acute myeloid leukemia, Splenomegaly, Acute myelomono... ORPHA:86843
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lym... ORPHA:1667
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica... ORPHA:955
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... OMIM:613805
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpa... ORPHA:1295
Cardioacrofacial Dysplasia 1
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum OMIM:619142
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Retrognathia, Butterfly vertebrae OMIM:619227
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... OMIM:613803
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Carious teeth, Delayed skeletal maturation, Small hand, Hyp... ORPHA:1786
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Missing ribs, Short neck, Micrognathia, Abnormality of the spleen, Abnor... ORPHA:1834
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Spinal canal ... OMIM:277600
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia OMIM:241310
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Hypoplasia of the maxi... OMIM:608328
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hemiver... OMIM:304050
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Genu valgum, Joint hyperflexibility, Hypoplasia of the zygomatic bone, Cub... ORPHA:1778
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... ORPHA:2588
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Dental malocclusion, Reduced bone mineral density, Abnormal pelvic girdle ... ORPHA:3079
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Sandal gap, Malar prominence, Joint hyperflexibility, Hypoplasia of the zy... ORPHA:2715
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Hypoplasia of the maxilla, Clinodactyly, Neonatal hyperbilirubinemia ORPHA:293939
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol... ORPHA:1110
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... ORPHA:828
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Short distal phalanx of finger OMIM:614261
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion... OMIM:269500
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Patellar a... OMIM:613804
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Talipes equinovarus, Camptodacty... ORPHA:314679
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinuses, Genu valgum... ORPHA:560
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Fused cervical vertebrae, Fatigabl... ORPHA:268882
Harrod Syndrome
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... ORPHA:2115
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... ORPHA:391474
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis, Lympho... OMIM:158350
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... OMIM:613458
Dyskeratosis Congenita
Recurrent fractures, Abnormality of neutrophils, Hypoplasia of the maxilla, Thrombocytopenia, Spl... ORPHA:1775
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia o... OMIM:309520
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... OMIM:123500
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia OMIM:616367
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... OMIM:165590
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular... OMIM:616462
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Micrognathia ORPHA:79113
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... OMIM:263650
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morphology, Coronal cran... ORPHA:2095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Sinus... OMIM:102700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Micrognathia, Contracture of the dista... ORPHA:83617
Nablus Mask-Like Facial Syndrome
Sandal gap, Short hallux, Tapered finger, Short neck, Craniosynostosis, Hypoplasia of the maxilla... OMIM:608156
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Micrognathia, Hypoplasia of the maxilla, Flexion co... OMIM:180849
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla OMIM:167730
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious t... OMIM:182250
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Delayed skeletal maturation, Clinodactyly of the 2nd finger, Scoliosis... ORPHA:251061
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, De... ORPHA:2554
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger ORPHA:228396
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis OMIM:615108
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia... ORPHA:3253
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:211380
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Delayed cl... OMIM:300373
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratosis, Scoliosis OMIM:615109
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien... OMIM:301074
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone ORPHA:3074
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Micrognathia, Hypoplasia of the zygomatic bone, Scoliosis, Malar flattening ORPHA:1968
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... OMIM:157800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Primrose Syndrome
Hip contracture, Joint hypermobility, Elevated circulating alpha-fetoprotein concentration, Metat... OMIM:259050
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis OMIM:105830
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ve... ORPHA:861
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Short long bone, Bi... OMIM:306955
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Splenomegaly, Brachydactyly OMIM:616368
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia OMIM:248390
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro... ORPHA:1299
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... ORPHA:444077
Kinsship Syndrome
Osteopenia, Pes planus, Sacral dimple, Mandibular prognathia, Micrognathia, Coxa valga, Short nec... OMIM:619297
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Goldberg-Shprintzen Syndrome
Short neck, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, Small hand,... OMIM:609460
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu ... ORPHA:289
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Radial ... OMIM:214800
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all ... OMIM:218330
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... ORPHA:989
Toluene Embryopathy
Tapered finger, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1920
Rapp-Hodgkin Syndrome
Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Palmoplantar ... OMIM:129400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation of fin... ORPHA:1101
Peters-Plus Syndrome
Proximal placement of thumb, Micrognathia, Limited elbow movement, Short neck, Hypoplasia of the ... OMIM:261540
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Palmoplantar keratoderma, 2-3 toe syndactyly OMIM:106260
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Abnormal fibula morphology, Hypoplasia of the zygo... ORPHA:1812
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Preaxial h... ORPHA:2750
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Distal Deletion 19P
Long toe, Joint hyperflexibility, Hypoplasia of the maxilla, Arachnodactyly ORPHA:96129
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Pes planus, Mandibular prognathia, Overlapping toe, Kyphoscoliosis, Hypoplasia of t... OMIM:617402
Tibial Hemimelia
Absent tibia OMIM:275220
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... ORPHA:2753
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Hypoplasia of the zygoma... OMIM:613603
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Hypoplasia of the zygomatic bone,... OMIM:613717
Zttk Syndrome
Craniosynostosis, Hypoplasia of the maxilla, Kyphosis, Flexion contracture, Small hand, Hemiverte... OMIM:617140
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Kyphoscoliosis, Short neck, A... ORPHA:2044
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Holoprosencephaly
Hyponatremia, Talipes, Short neck, Abnormality of the spleen, Abnormal form of the vertebral bodi... ORPHA:2162
Craniosynostosis And Dental Anomalies
Hallux valgus, Mandibular prognathia, Prominent metopic ridge, Delayed eruption of teeth, Broad h... OMIM:614188
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla ORPHA:2399
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Genu valgum, Palmoplantar keratoderma, Hypoplasia of the... ORPHA:1340
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla OMIM:601499
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H... OMIM:164210
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th... ORPHA:904
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Palmoplantar cutis gyrata, Palmoplantar keratoderma, Hypoplasia of the zygomati... ORPHA:1555
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla ORPHA:782
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1131
Pancreatic Agenesis-Holoprosencephaly Syndrome
Reduced C-peptide level, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zygo... ORPHA:556955
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Micrognathia, I... OMIM:619991
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand OMIM:122880
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger ORPHA:920
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Aplasia/Hypoplasia of th... ORPHA:306542
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... ORPHA:50918
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Hy... ORPHA:500150
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Joint hypermobility, Micrognathia OMIM:614437
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f... OMIM:604292
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... ORPHA:3404
Charge Syndrome
Delayed eruption of teeth, Talipes, Abnormal tibia morphology, Hemivertebrae, Bifid femur, Hypopl... ORPHA:138
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Postaxial hand polydactyly, Agenesis of ... OMIM:610829
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hypoplasia of the maxilla, Carious teeth, Split hand, Split foot, Hand polydactyl... OMIM:129900
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Hypoplasia of the zygomatic bone, ... OMIM:200110
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Neonatal death, Hitchhiker thumb, Hypoplasia of the zygomatic bone OMIM:618500
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla, Scoliosis OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Knee joint - MPATH pathological process term neoplasia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult
Sternum - MPATH pathological process term fibro-osseous lesion Ttc28tm1b(EUCOMM)Hmgu HOM Early adult
Knee joint - MPATH pathological process term developmental dysplasia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult
Sternum - MPATH pathological process term hyperplasia Ttc28tm1b(EUCOMM)Hmgu HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ttc28.

No publications found that use IMPC mice or data for Ttc28.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ttc28tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ttc28tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ttc28tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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