Gene Summary

Name:
terminal nucleotidyltransferase 5A
Synonyms:
Fam46a,  D930050G01Rik,  BAP014

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Tent5aem1(IMPC)Ccpcz HOM Early adult 3.54×10-16
decreased locomotor activity Tent5aem1(IMPC)Ccpcz HOM   Early adult 2.25×10-06
short tibia Tent5aem1(IMPC)Ccpcz HOM Early adult 1.34×10-05
abnormal fibula morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 8.75×10-07
abnormal tibia morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 6.33×10-09
decreased circulating serum albumin level Tent5aem1(IMPC)Ccpcz HOM Early adult 1.43×10-06
abnormal bone structure Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
enhanced cued conditioning behavior Tent5aem1(IMPC)Ccpcz HOM Early adult 4.43×10-06
increased granulocyte number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.34×10-07
abnormal lens morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 7.95×10-05
thrombocytosis Tent5aem1(IMPC)Ccpcz HOM Early adult 3.10×10-06
decreased lymphocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 5.36×10-10
scoliosis Tent5aem1(IMPC)Ccpcz HOM Early adult 4.35×10-05
abnormal radius morphology Tent5aem1(IMPC)Ccpcz HOM   Early adult 5.66×10-07
increased monocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.91×10-09
increased leukocyte cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 5.15×10-05
abnormal femur morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 7.95×10-10
abnormal pelvic girdle bone morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 1.03×10-13
increased neutrophil cell number Tent5aem1(IMPC)Ccpcz HOM Early adult 1.93×10-09
impaired righting response Tent5aem1(IMPC)Ccpcz HOM Early adult 2.96×10-07
increased freezing behavior Tent5aem1(IMPC)Ccpcz HOM Early adult 1.04×10-17
abnormal mandible morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.84×10-11
abnormal scapula morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.82×10-11
decreased respiratory quotient Tent5aem1(IMPC)Ccpcz HOM Early adult 1.30×10-09
increased anxiety-related response Tent5aem1(IMPC)Ccpcz HOM   Early adult 1.17×10-05
decreased circulating glucose level Tent5aem1(IMPC)Ccpcz HOM   Early adult 9.76×10-05
abnormal ulna morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.82×10-11
abnormal cranium morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 3.54×10-08
abnormal tooth morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Tent5aem1(IMPC)Ccpcz HOM   Early adult 1.96×10-06
abnormal humerus morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 1.84×10-13
abnormal rib morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 4.16×10-13
abnormal joint morphology Tent5aem1(IMPC)Ccpcz HOM Early adult 2.09×10-09
decreased body weight Tent5aem1(IMPC)Ccpcz HOM Early adult 3.42×10-10
increased circulating alkaline phosphatase level Tent5aem1(IMPC)Ccpcz HOM Early adult 0.00
decreased Ly6C-positive mature NK cell number Tent5aem1(IMPC)Ccpcz HOM   Early adult 2.92×10-05
abnormal gait Tent5aem1(IMPC)Ccpcz HOM Early adult 5.26×10-14
increased circulating potassium level Tent5aem1(IMPC)Ccpcz HOM Early adult 1.08×10-05

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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 Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Hind Leg and Hip

2 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Skull Lateral Orientation

1 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Whole Body Dorso Ventral

2 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Forepaw

1 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Whole Body Lateral Orientation

1 Images

ALTERNATIVE - X-ray

ALTERNATIVE - XRay Images Skull Dorso Ventral Orientation

1 Images

Human diseases caused by Tent5a 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 Tent5a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing ... OMIM:617952

The table below shows human diseases predicted to be associated to Tent5a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lactate Dehydrogenase B Deficiency
Reduced circulating lactate dehydrogenase concentration OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:1803
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Di... OMIM:600121
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Rhizomelic Chondrodysplasia Punctata, Type 5
Irregular capital femoral epiphysis, Metaphyseal irregularity, Metaphyseal cupping, Broad-based g... OMIM:616716
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Anterior rib cupping, Bilateral t... OMIM:269250
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Microcep... ORPHA:3268
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Short tho... ORPHA:1801
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Ankle pain, Chondritis, Antalgic gait, Tarsal sti... ORPHA:563991
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-... ORPHA:457395
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Disproportionate short-trun... OMIM:615222
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Disproportionate... OMIM:187600
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Leth... OMIM:187601
Mueller-Weiss Syndrome
Equinovarus deformity, Sclerosis of foot bone, Difficulty walking, Knee osteoarthritis, Pes planu... ORPHA:566943
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b... ORPHA:93296
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... OMIM:215045
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... OMIM:200700
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Ovoid... OMIM:151210
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Congenital Vertical Talus
Abnormality of the foot musculature, Ankle pain, Equinus calcaneus, Pes valgus, Pes planus, Lower... ORPHA:178382
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disprop... ORPHA:85166
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Campomelic Dysplasia
Micrognathia, Bowing of the long bones, Talipes equinovarus, Male pseudohermaphroditism, Hypoplas... ORPHA:140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Di... OMIM:300863
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Arthrogryposis, Distal, Type 1A
Hand clenching, Joint contracture of the hand, Overlapping toe, Overlapping fingers, Cryptorchidi... OMIM:108120
Three M Syndrome 1
Postnatal growth retardation, Pes planus, Hypospadias, Hip dislocation, Short 5th finger, Joint d... OMIM:273750
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, P... ORPHA:1988
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calc... ORPHA:163966
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Ge... OMIM:602557
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Sclerotic vertebral endplates, Elevated circulating alkaline phosphatase... OMIM:615198
Cleidocranial Dysplasia
Hypoplastic scapulae, Micrognathia, Genu valgum, Decreased skull ossification, Abnormal metacarpa... ORPHA:1452
Eiken Syndrome
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal fingertip morphology, Limited elb... ORPHA:79106
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:3144
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Antalgic gait, Leukocytosis, Multicentric femoral head ossification, ... ORPHA:168621
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Osteopenia, Short 1st metaca... OMIM:620076
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Three M Syndrome 3
Slender long bone, Short thorax, Increased vertebral height, Joint hypermobility, Microcephaly, P... OMIM:614205
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Elevated circulating alkalin... OMIM:600081
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Disproportionate short stature, Abnormal pelvic girdle bone morphology, S... OMIM:222765
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Delayed skeletal ... OMIM:613320
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypo... ORPHA:2491
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... ORPHA:440354
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... OMIM:187760
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Cryptorchidi... OMIM:108720
Bowen-Conradi Syndrome
Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Severe postnatal growth r... ORPHA:1270
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, In... OMIM:616897
Dysosteosclerosis
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Diaphysea... OMIM:224300
Hypophosphatasia, Childhood
Rachitic rosary, Low alkaline phosphatase, Short stature, Craniosynostosis, Waddling gait, Bowing... OMIM:241510
Three M Syndrome 2
Severe short stature, Thin ribs, Short 5th finger, Pectus carinatum, Clinodactyly, Slender long b... OMIM:612921
Monosomy 5P
Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Recurrent frac... ORPHA:281
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal morpho... ORPHA:2141
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Cryptor... OMIM:612447
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Ankylosis, Recurrent fractures, Barrel-shaped chest, Short humerus, Bowing ... OMIM:239000
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited hip movement, Genu valgum, Pes pla... OMIM:132400
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart... ORPHA:2347
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Sprengel an... ORPHA:958
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Camptodactyly of finger, Ulnar... OMIM:601680
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f... OMIM:259450
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Disproportionat... OMIM:241500
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Kyphosis, Bowing of l... OMIM:259440
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Digitotalar Dysmorphism
Ulnar deviation of finger, Rocker bottom foot, Mild short stature, Camptodactyly of finger OMIM:126050
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip con... OMIM:156400
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... OMIM:186500
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Abnormal epiphysis morphology, Scoliosis, Delayed skeletal matura... ORPHA:2501
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Neonatal short-limb short stature, Narrow chest, Joint contracture of the h... OMIM:224400
Osteogenesis Imperfecta, Type Xix
Severe short stature, Pectus carinatum, Rhizomelia, Osteopenia, Vertebral wedging, Bowing of the ... OMIM:301014
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,... OMIM:122860
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Uterus didelphys, Limited elbow flexion, Rhizomelic arm... OMIM:164745
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... OMIM:620019
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... OMIM:614091
Larsen-Like Syndrome
Joint dislocation, Delayed skeletal maturation, Macrocephaly, Radial deviation of the 4th finger,... OMIM:608545
Seckel Syndrome 4
Severe short stature, Intrauterine growth retardation, Steep acetabular roof, 11 pairs of ribs, M... OMIM:613676
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disprop... ORPHA:99642
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... OMIM:620639
Bowen-Conradi Syndrome
Abnormal joint morphology, Micrognathia, Microcephaly, Clinodactyly of the 5th finger, Rocker bot... OMIM:211180
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Areflexia of lower limbs, Hyperlordosis, Hyporeflexia of lower limbs, Calcaneov... OMIM:162370
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo... ORPHA:628
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Elevated circulating alkalin... OMIM:241530
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg... ORPHA:56304
Osteogenesis Imperfecta, Type X
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation, 11 pairs of ribs, Microcephaly, Broad phal... OMIM:618724
Achondrogenesis, Type Ib
Hypoplastic ilia, Neonatal short-limb short stature, Narrow chest, Micromelia, Absent or minimall... OMIM:600972
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Broad-based gait, Postnatal growth retardation, Micrognathia, Cryptorchi... ORPHA:251028
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... ORPHA:2839
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Micrognathia, Cryptorchidism,... ORPHA:93328
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Metatropic Dysplasia
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecular... ORPHA:2635
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Prieto Syndrome
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Cryptorchidism, Talipes equinovarus, ... OMIM:309610
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Disproportionate short-limb short stature, Bowing of the arm, Bell-shaped thorax, ... OMIM:619131
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Macrocephaly, Micrognathia, Short ribs, M... OMIM:241800
Osteogenesis Imperfecta, Type Iii
Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender ... OMIM:259420
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hypoplastic ilia, Narrow chest, Anisospondyly, Limitation of joint mobility... ORPHA:1865
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal undertubulation, Macrocephaly, Sho... ORPHA:1513
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Broad long bones, Abnormal foot mor... OMIM:200610
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Chordee,... OMIM:166250
Neonatal Severe Primary Hyperparathyroidism
Short stature, Narrow chest, Abnormal metaphysis morphology, Recurrent fractures ORPHA:417
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Lethal short-limbed short stature, Joi... ORPHA:1860
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta... OMIM:617895
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Isosexual precocious puberty, Increased suscepti... ORPHA:2788
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... OMIM:166210
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... OMIM:169550
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Vertebral we... OMIM:617866
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femo... OMIM:209950
Bruck Syndrome 2
Platyspondyly, Pectus carinatum, Osteopenia, Pterygium, Elbow flexion contracture, Femoral bowing... OMIM:609220
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ... OMIM:615630
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Elevated circulating alkalin... OMIM:264700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Cone-shaped epiphysis, Thoracic hypoplasia, Femoral bowing, Hori... OMIM:613091
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Silver-Russell Syndrome
Abnormal vagina morphology, Delayed cranial suture closure, Secondary microcephaly, Postnatal gro... ORPHA:813
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... ORPHA:93308
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra... OMIM:610967
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Clitoral hypertrophy, Elbow dislocation, Cu... OMIM:224690
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Anterior ... OMIM:271665
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... OMIM:252500
Dysplasia Epiphysealis Hemimelica
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Acrootoocular Syndrome
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Delayed skeletal maturation, Micr... ORPHA:2980
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral bodies, O... ORPHA:93160
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme... ORPHA:3269
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Knee flexion c... OMIM:616266
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand... ORPHA:1159
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... OMIM:177170
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Elevated circulating alkalin... OMIM:277440
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Slender long bone, Intrauterine growth retardation, Bowing of... OMIM:619795
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Femoral retroversion, Short stature, Scoliosis, Kyphosis ORPHA:79107
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Increased iduronate sulfatas... OMIM:252600
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minima... ORPHA:1190
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Short toe, Short finger, Abnormal long bone morphology, G... OMIM:259270
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Bone pain, Sclerosis of sku... OMIM:602080
Ellis-Van Creveld Syndrome
Pectus carinatum, Neonatal short-limb short stature, Postaxial foot polydactyly, Disproportionate... OMIM:225500
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Disproportionate short-trunk short st... OMIM:184252
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Anterior concavi... OMIM:309350
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow flexion contrac... OMIM:615065
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Cryptorchidism, Camptodactyly, Rocker bottom foot, Arthrogryposis... OMIM:618393
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed... ORPHA:166011
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Difficulty walking, Postnatal growth retardation, ... ORPHA:289157
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Craniometadiaphyseal Dysplasia
Osteopenia, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis ... OMIM:269300
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Scoliosis, Recu... OMIM:615066
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... OMIM:618188
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Decreased calvarial ossif... OMIM:616229
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Dispro... ORPHA:239
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... OMIM:127300
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Cryptorchidism, Short hu... OMIM:607143
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Pectus carinatum, Hypermobility of interphalangeal joints, Hyperextensi... OMIM:613849
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Juvenile Paget Disease
Pectus carinatum, Abnormal clavicle morphology, Coarse metaphyseal trabecularization, Cranial hyp... ORPHA:2801
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Short stature, Craniosynostosis,... ORPHA:436
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Bowing of the long ... OMIM:174810
X-Linked Intellectual Disability, Hedera Type
Hyporeflexia of upper limbs, Inability to walk, Absent Achilles reflex, Dysmetria, Pes planus, Ga... ORPHA:93952
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Micromelia, Abnormal enchondral ossification, Macrocephaly, M... ORPHA:93299
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac... ORPHA:3409
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Dystonia-Deafness Syndrome 1
Loss of ambulation, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis OMIM:607371
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis OMIM:192950
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p... ORPHA:85438
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Dispro... OMIM:184250
Langer Mesomelic Dysplasia
Increased carrying angle, Radial bowing, Short tibia, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Lumbar scoliosis, Metaphyseal dy... OMIM:600373
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Joint di... ORPHA:53
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology... ORPHA:668
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Talipes equinovarus, Beaking o... OMIM:150250
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Micrognathia, Patellar aplasia, Cryptorchidism, Aplasia/Hypo... OMIM:613803
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Neonatal short-limb short stature, Metaphyse... ORPHA:50945
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Delayed skeletal maturation, Relative macrocephaly, Intrau... OMIM:617396
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla... ORPHA:2911
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Pectus carinatum, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symph... OMIM:614856
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... ORPHA:210110
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Abnormal vertebral segmentation and ... ORPHA:66637
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Hip contracture, Knee flexion contracture,... OMIM:616809
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Elevated circulating alkali... OMIM:610968
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Osteogenesis Imperfecta, Type Vi
Bowing of the arm, Increased susceptibility to fractures, Elevated circulating alkaline phosphata... OMIM:613982
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arthrogryposis multiplex congenita, Ulnar deviation of the hand or of fingers of the hand, Macroc... ORPHA:562528
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedgin... ORPHA:40
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Joint hypermobility, Pes planus, Pectus excavatum, Calcaneovalgus deformity OMIM:225320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu recurvatum, Joint dislocation, Sandal gap, Hypermobility of distal interphalangeal joints, R... ORPHA:230851
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Contractures of the large joints, Equinovarus deformity, Micrognathia... ORPHA:3078
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase concentratio... ORPHA:89936
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Elevated circulating alkaline phosphatase con... OMIM:619073
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Intrauterine growth retardation, Abnormal circulating enzyme concentration or activ... ORPHA:565624
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... OMIM:602271
Bruck Syndrome
Platyspondyly, Kyphosis, Pterygium, Joint stiffness, Bowing of the long bones, Talipes equinovaru... ORPHA:2771
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo... ORPHA:1837
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Tall st... OMIM:615923
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Kyphosis, Limited hip moveme... OMIM:183900
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Delayed skeletal maturation, Intrauterine growth retardation, 11 pairs of ri... OMIM:617604
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Léri-Weill Dyschondrosteosis
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Oncogenic Osteomalacia
Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ... ORPHA:352540
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Reduced arm span, Genu valgum, Bilateral coxa valga, Abnormality of the knee, Genu varum, Abnorma... ORPHA:166002
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Pes planus, Disproportionate prominence of the femoral med... OMIM:161200
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, ... ORPHA:582
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Macrocephaly, In... OMIM:269860
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Intrauterine gr... ORPHA:2319
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Platyspondyly, Flared metaphysis, Carpal syno... OMIM:615349
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E... ORPHA:968
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydac... OMIM:616300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation, Cryptorch... ORPHA:2772
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Mi... ORPHA:3320
Arthrogryposis, Distal, Type 1B
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Distal arthrogryposis... OMIM:614335
Classical-Like Ehlers-Danlos Syndrome Type 2
Elbow dislocation, Micrognathia, Cryptorchidism, Arachnodactyly, Pes planus, Hip dislocation, Ost... ORPHA:536532
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Reduced bone mineral density, Brachydactyly, Short stature, Short femoral neck,... OMIM:618392
Trichorhinophalangeal Syndrome, Type I
Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planus, Accelerated ... OMIM:190350
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Broad ribs... OMIM:600002
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Decreased LDL cholesterol concentration, Brachydactyly, Ataxi... ORPHA:79320
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing ... OMIM:617952
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm... ORPHA:1488
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Bone pain, Hypophosphatemic rickets, Elevated... ORPHA:157215
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Micrognathia, J... ORPHA:2050
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Craniofacial hyperostosis, Anisospondyly, Short tho... ORPHA:2484
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Difficulty walking, Elevated circulating alkaline phosph... ORPHA:249
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Hypogonadism, Postnatal growth retardation, Intrauterine growth re... OMIM:612513
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc... ORPHA:90650
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cryptorchidism,... OMIM:619110
Mycetoma
Structural foot deformity, Abnormal forearm bone morphology, Painless fractures due to injury, Pa... ORPHA:2583
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Platyspondyly, Femoral bowing, Elevated circulating alkaline ph... OMIM:126550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Micrognathia, Cryptorchidism... OMIM:210600
Geroderma Osteodysplastica
Severe short stature, Pectus carinatum, Platyspondyly, Abnormal epiphysis morphology, Abnormal fo... ORPHA:2078
Camurati-Engelmann Disease
Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pes planus, Metap... ORPHA:1328
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow... OMIM:201250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Distal sensor... OMIM:208920
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared,... ORPHA:168555
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi... ORPHA:319195
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ta... OMIM:134780
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Brachydactyly, Elevated circulating alkaline phosphatase concentration,... OMIM:618879
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Plantar pits, Vertebral wedging... OMIM:109400
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:40366
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Elbow dislocation, Pterygium, Micrognathia, Abnormal femur morphology, Cr... ORPHA:93329
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, Long clavicles, Hypospadias, Cone-shape... ORPHA:397715
3M Syndrome
Thin ribs, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Delayed skeletal maturation... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... ORPHA:93356
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Delayed skeletal maturation, Postnatal growth retardation, Single transverse palmar c... ORPHA:2324
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Otosclerosis, Kyphosis, Increased susce... OMIM:166220
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Microretrognathia, Coronal craniosynostosis, ... OMIM:616294
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Postnatal gro... ORPHA:93324
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... ORPHA:71289
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Camurati-Engelmann Disease, Type 2
Osteopenia, Hypogonadism, Lower limb pain, Hyperostosis, Hip contracture, Elevated circulating al... OMIM:606631
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Abnormal long bone morphology, Elevated circulating alkaline phosphatase con... ORPHA:52430
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Precocious costochondral ossification, Squared-off platyspondyly, Childhood... OMIM:271630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... OMIM:271640
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Scoliosis, Camptodactyly of finger, Azoospermia, Cubitus valgus, Microcephaly, A... ORPHA:261519
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Micrognathia, Talipes equinovarus, Microcephaly, Rocker bottom f... OMIM:616570
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c... ORPHA:1972
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Difficulty walking, Inability to walk, Micrognathia, Cryptorchidism, S... OMIM:611890
Hypochondroplasia
Disproportionate short-limb short stature, Flared metaphysis, Widened interpedicular distance, Lu... OMIM:146000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Ataxia, Flattene... OMIM:300232
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Micromelia, Short thorax, Abn... ORPHA:93298
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Platyspondyly, Femoral bowing, Increased susceptibility to frac... OMIM:231070
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... OMIM:300554
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... ORPHA:1782
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Difficulty walking, Hypoplastic iliac wing, Wide hu... OMIM:619345
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,... OMIM:620073
Ulnar-Mammary Syndrome
Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Shawl scrotu... OMIM:181450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi... OMIM:210710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Pes planus, Bowing of t... OMIM:130070
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Spondylometaphyseal Dysplasia, Algerian Type
Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha... OMIM:184253
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Micrognathia, Akines... OMIM:253290
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio... OMIM:618363
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... OMIM:265900
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Clinodactyly, Short tibia, Oligodactyly, 11 pairs of ribs, Overlapping toe, Micro... OMIM:201170
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, S... ORPHA:420794
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Disproportionate short-limb short stature, Thoracic hypoplasia, Trident pelvis, Sho... OMIM:619479
Catel-Manzke Syndrome
Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Crypt... OMIM:616145
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymph... OMIM:619281
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Short neck, Small then... OMIM:105650
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... OMIM:117650
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Postnatal growth retardation, Fibular aplasia, Micrognathia, Enl... ORPHA:3404
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Exostoses, Multiple, Type Ii
Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Short stature, Pelvic... OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Short stature, Pelvic... OMIM:133700
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Pectus carinatum, Inability to walk, Leukopenia, Thick vermilion border, Splenom... OMIM:617303
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Lumbar kyphoscoli... OMIM:156550
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo... ORPHA:3098
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Downturned corners of mouth, Microdontia, Decreased body weight, Motor stereotyp... OMIM:618347
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Uterus didelphys, Preaxial polydactyly, Septate vagina, Micrognathia, ... OMIM:617925
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Disproportionate short-limb short stature, S... OMIM:258315
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Micrognathia, Increa... OMIM:312150
Cranioectodermal Dysplasia 1
Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Short toe, F... OMIM:218330
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... OMIM:263650
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ... ORPHA:2114
Pycnodysostosis
Small hand, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Shor... ORPHA:763
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Pes p... OMIM:245600
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Broad-based gait, Inability to walk, Microcephaly, Recurrent fractures OMIM:619884
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b... ORPHA:83
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver... OMIM:610682
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... OMIM:253000
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal e... ORPHA:85198
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium,... ORPHA:371428
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Intrauterine growth retardation, Tarsal osteovalgus, Adducted thumb, Brachyd... OMIM:614257
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Cryptorchidism, Supernumerary ribs, Patellar subluxation, Bilateral talipes ... ORPHA:2958
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... OMIM:253010
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femora... OMIM:619638
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Thin Ribs-Tubular Bones-Dysmorphism Syndrome