Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pappalysin 2
Synonyms:
PLAC3,  placenta-specific 3,  Pappe,  pregnancy-associated plasma preproprotein-A2,  PAPP-A2,  pregnancy-associated plasma protein-E

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pappa2 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 Pappa2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teeth, Long toe, Mi... OMIM:619489

The table below shows human diseases predicted to be associated to Pappa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi... OMIM:227270
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ... OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Irregular vertebral endplates, Failure to thrive, Rhizomelia, Stippled calcificatio... OMIM:222765
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ... ORPHA:2831
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Hypoplasia of the radius, Sandal gap, Short 5th finger, Bil... ORPHA:1972
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Spondyloperipheral Dysplasia
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... OMIM:271700
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Macrocephaly, Limited elbow ... OMIM:146000
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... OMIM:304950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Irregular vertebral endplates, Obesity, Metaphyseal irregularit... OMIM:618395
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, ... OMIM:249600
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Absent thumb, Hypoplasia of t... OMIM:612447
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Abnormal foot mor... ORPHA:75508
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius OMIM:212780
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Malar flattening, Fibular hypoplasia, Postaxial oligodactyl... OMIM:608571
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Micrognathia, Malar flattening, Hypoplasia of the ulna, Decreased body weight, Clinodactyly ORPHA:357175
Autosomal Dominant Omodysplasia
Micrognathia, Rhizomelia, Malar flattening, Short 1st metacarpal, Short palm, Short humerus, Pate... ORPHA:93328
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... ORPHA:2249
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Postaxial oligodactyly, Apla... ORPHA:52056
Mental Retardation, Autosomal Recessive 35
Micrognathia, Malar flattening, Hypoplasia of the ulna, Decreased body weight, Clinodactyly OMIM:615162
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Mandibular prognathia, Shor... ORPHA:950
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Abnormal vertebral morph... OMIM:142900
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Scoliosis, Tibial torsion, Bowing of the legs OMIM:188800
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovoid vertebral bodie... OMIM:184255
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Prominent deltoid tuberosities, Short clavicles, Rhizomelia, Short ri... OMIM:610319
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... ORPHA:2557
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, M... OMIM:602471
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... ORPHA:2501
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Short foot, Obe... ORPHA:314795
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Malar flattening, 11 pairs of ribs,... OMIM:108720
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Sc... ORPHA:1988
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasi... ORPHA:2256
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... OMIM:211350
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Syndactyly, Mesomelia OMIM:228940
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Relative macrocephaly, Epiphyseal stippling, Shortening ... OMIM:619135
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... OMIM:617719
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
3M Syndrome
Rocker bottom foot, Abnormality of the elbow, Abnormal dental enamel morphology, Congenital hip d... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Arthralgia of the hip, Abnormality of the knee, Dysplasia of the femoral ... ORPHA:99642
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... OMIM:226900
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Malar flattening, Abnormal d... ORPHA:3258
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... ORPHA:93333
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Micrognathia, Upper limb undergrowth, Small epiphyses, Increased head c... ORPHA:94068
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... ORPHA:174
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Micrognathia, Ulnar deviation of the hand, Ulnar devia... OMIM:602613
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... OMIM:609052
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Cono-Spondylar Dysplasia
Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Kyphosis, Short humeru... ORPHA:420794
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Increased hepatic glycogen content, Postnatal growth ... OMIM:232700
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Pes planus, Short long bone, Microretrognathia, Micrognathia, Small epiphyses, Kne... OMIM:618363
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Talipes equinovarus, Absent radius, Microcephaly, Forearm ... OMIM:251230
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... OMIM:607078
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Kyphosis, Scoliosi... OMIM:271530
Aase-Smith Syndrome
Talipes equinovarus, Aplasia/Hypoplasia of the radius, Slender finger, Camptodactyly of finger, A... ORPHA:916
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Hypoplasia of the zygomat... ORPHA:958
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Tapered finger, Irregular verte... OMIM:601668
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Tibial bowing, Genu varum, Radial bowing, Pear-sh... OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Cervical platyspondyly, Short middle phalanx of finger, Genu varum, Sh... ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Microcephaly, Forearm undergrowth OMIM:218650
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Nonopposable triphalangeal thumb, Micromelia, Hypoplasia of the radius ORPHA:2252
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Ethanolaminosis
Cardiomegaly OMIM:227150
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Radioulnar ... OMIM:164900
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Malar flattening, Abnormal... OMIM:601559
Atelosteogenesis, Type Iii
Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip... OMIM:108721
Postaxial Acrofacial Dysostosis
Micrognathia, Malar flattening, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of fin... ORPHA:246
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp... OMIM:614900
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Elevated hepatic ... OMIM:614480
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Atelosteogenesis, Type Ii
Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, Coronal cleft vertebra... OMIM:256050
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Cubitus valgus, Joint contractur... OMIM:311450
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... OMIM:250460
Codas Syndrome
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Coronal cleft vertebrae, Pes valgus, P... OMIM:600373
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:615947
W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Pes planus, Elbow dislocation, Pes cavus, Cam... ORPHA:2804
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Proximal placement of thumb, Absent radius, Hand polydactyly, Shor... OMIM:314390
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Hypo... ORPHA:1352
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Eiken Syndrome
Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Narrow pelvis bone, Cubitus va... ORPHA:79106
Mulibrey Nanism
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ... ORPHA:1509
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Short clavicles, Talipes e... OMIM:309350
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... OMIM:184253
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... OMIM:616897
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Short metatarsal, Preaxial hand polydactyly, Short metacarpal, Br... ORPHA:1278
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Van Den Ende-Gupta Syndrome
Hallux valgus, Narrow foot, Talipes equinovarus, Glenoid fossa hypoplasia, Malar flattening, Join... OMIM:600920
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H... OMIM:602418
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Kyphosis, Anterior t... OMIM:112350
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies,... ORPHA:1837
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice ORPHA:79238
Postaxial Acrofacial Dysostosis
Abnormal foot morphology, Micrognathia, Malar flattening, Congenital hip dislocation, Hypoplasia ... OMIM:263750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short femur, Elbow flexio... OMIM:210710
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Scoliosis, Foot oligodactyly OMIM:601357
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Broad femoral neck, ... OMIM:609325
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Avascular necrosis of the ca... OMIM:132400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Brachydactyly, Hip dysplasi... ORPHA:2370
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Thoracic scoliosis, Abnormality of tibial epiphyses, Double-layere... ORPHA:166011
Distal Trisomy 5Q
Carious teeth, Micrognathia, Hypoplasia of the radius, Microcephaly, Absent thumb, Hypoplasia of ... ORPHA:96097
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Microcephaly, Short metacarpa... OMIM:617604
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Kyphoscol... OMIM:200980
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Microphthalmia With Limb Anomalies
Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Hypoplasia of the ... ORPHA:1106
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Talipes, Ulnar deviation of finger, Overlapping fingers, Camp... ORPHA:1146
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenomegaly,... OMIM:608971
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Abnormality of pelvic girdle bo... OMIM:265800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Hammertoe, Abnormal vertebral morphology, Hypoplasia of... ORPHA:2319
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short distal phalanx of f... ORPHA:1858
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Beaking of vertebral bodies, Talipes equinovarus, Abnormality of the elbow, Abnorma... ORPHA:93359
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly ... OMIM:600123
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviation of the 5th ... OMIM:143095
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Metatarsal diaphyseal endosteal scleros... OMIM:144750
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the femoral head, ... ORPHA:2114
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Omodysplasia 1
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Malar flattening... OMIM:258315
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the radius, Symphalangism affecting the ... ORPHA:2741
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongated femoral neck, Hip disl... OMIM:619345
Alagille Syndrome
Micrognathia, Failure to thrive, Abnormal form of the vertebral bodies, Spina bifida occulta, Sho... ORPHA:52
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Rhizomelia, Abnormality of the metaphysis, Abnorma... ORPHA:93329
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... ORPHA:1788
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Slc35A2-Cdg
Metatarsus adductus, Failure to thrive in infancy, Talipes equinovarus, Aplasia/hypoplasia involv... ORPHA:356961
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... OMIM:271650
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly ORPHA:3469
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubitus valgus, Ov... OMIM:617396
Trisomy 4P
Carious teeth, Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Scoliosis, M... ORPHA:1738
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... OMIM:300106
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Craniofacial hyperostosis, Abnormality of p... ORPHA:2725
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Craniometaphyseal Dysplasia, Autosomal Dominant
Club-shaped distal femur, Mandibular prognathia, Metaphyseal widening, Calvarial osteosclerosis, ... OMIM:123000
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality... ORPHA:3098
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Macrocephaly, Ankle clonus, Hypoplasia of the ulna, Scoliosis OMIM:615398
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Microcephaly, Short tibia OMIM:258865
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Talipes equinovarus, Hemivertebrae, Hypoplastic acetabulae, Short f... OMIM:134780
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Short thumb, Distally placed thumb, Hypoplasia of the radius OMIM:179270
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Pes planu... OMIM:610967
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenome... OMIM:613673
Galactosemia Iii
Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:230350
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Malar flattening, ... OMIM:251450
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Baller-Gerold Syndrome
Micrognathia, Aplasia of metacarpal bones, Carpal bone aplasia, Aplasia/Hypoplasia of the thumb, ... OMIM:218600
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Limit... ORPHA:239
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality... ORPHA:2768
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Hyp... OMIM:210720
Odontochondrodysplasia
Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis, Delayed eruption ... ORPHA:166272
Seckel Syndrome 1
Micrognathia, Single transverse palmar crease, Ivory epiphyses, Talipes, Dislocated radial head, ... OMIM:210600
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormality of epiphysis mor... ORPHA:93351
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Sheldon-Hall Syndrome
Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of... ORPHA:1147
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Abnormal form... ORPHA:3429
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the patella, Small for gestational age, Aplasia/Hypoplasia o... ORPHA:2909
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Ulnar-Mammary Syndrome
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Obesity... OMIM:181450
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, Foot polydac... ORPHA:3186
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Short ribs, Delayed epiphyseal ossificati... OMIM:602557
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Steinfeld Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal vertebral morphology, Missing ribs, Hypopla... OMIM:184705
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Short lower limbs, Micrognathia, Tibial bowing, Lower limb undergrowth OMIM:236640
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Short stature, Failure to thrive, Lymphadenopathy,... OMIM:609981
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger s... OMIM:274000
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Tibial bowing, Fibular bowing, Coronal cleft vertebrae, Abnormal vertebral morpholo... ORPHA:1427
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Malar flattening, Pes planus, Toe c... ORPHA:457395
Cerebrocostomandibular Syndrome
Micrognathia, Malar flattening, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pa... OMIM:117650
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Lymphadenop... ORPHA:858
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial... OMIM:218330
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, 2-3 toe syndactyly, Radial bowing, Vertebral wedging, Postaxial polydactyly, Missin... OMIM:617866
Ulbright-Hodes Syndrome
Fibular aplasia, Ovoid thoracolumbar vertebrae, Micrognathia, Abnormal forearm bone morphology, T... ORPHA:3404
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean cor... OMIM:615234
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Pelvis-Shoulder Dysplasia
Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding c... ORPHA:2839
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Short tibia, Cone-shaped ... ORPHA:2751
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocyto... OMIM:615631
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Micrognathia, Abnormality of femur morphology, Abnormality of the knee,... ORPHA:2496
Occipital Horn Syndrome
Short clavicles, Capitate-hamate fusion, Limited knee extension, Pes planus, Platyspondyly, Genu ... OMIM:304150
Sc phocomelia syndrome
Micrognathia, Phocomelia, Aplasia of the ulna, Knee flexion contracture, Absent radius, Radial de... OMIM:269000
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short femur, Failure to thrive, Large hands, Long fingers, Long foot, Malar flatten... OMIM:264090
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle... ORPHA:2928
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Irregular proximal tibial epiphyses, Microgna... OMIM:154780
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Genu varum, Hypoplastic scapulae, Bowing of the long bones, Mala... ORPHA:85166
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Short ribs, Hypoplasia of the radius, Syndactyly, Relative macrocephaly, M... OMIM:617895
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... OMIM:154400
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... OMIM:601847
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Malar flattening, Short ribs, Broad hallux, Bulbo... OMIM:304120
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Phocomelia, Failure to thrive, Hypoplasia of the radius, Absent thumb, Hypopla... OMIM:156810
Nager Syndrome
Micrognathia, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormality of th... ORPHA:245
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly ORPHA:508542
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Absent thumb, Retrognathia, Bowed humerus, Bilateral talip... OMIM:618022
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... OMIM:307800
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ... OMIM:231070
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Campomelic Dysplasia
Micrognathia, Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Ta... OMIM:114290
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Hypoplasia of first ribs, Iliac h... OMIM:161200
Orofaciodigital Syndrome X
Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones, Retrognathia, Preaxial hand poly... OMIM:165590
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Fanconi Anemia, Complementation Group O
Short thumb, Absent thumb, Hypoplasia of the radius OMIM:613390
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Macrocephaly, Slender long bone ORPHA:1506
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormali... ORPHA:1452
Tetraploidy
Biparietal narrowing, Micrognathia, Radial club hand, Microcephaly ORPHA:3305
Codas Syndrome
Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodi... ORPHA:1458
Cousin Syndrome
Fibular aplasia, Toe syndactyly, Micrognathia, 2-3 toe syndactyly, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Hepatic fail... OMIM:613812
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:613313
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap... ORPHA:2502
Satoyoshi Syndrome
Genu varum, Abnormality of femur morphology, Abnormality of the knee, Tapered finger, Abnormality... ORPHA:3130
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Malar flattening, Epiphyseal dysplasia, Pes planus, 11 pairs ... OMIM:271640
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Spurred m... ORPHA:93284
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Czech Dysplasia
Flat capital femoral epiphysis, Irregular vertebral endplates, Short metatarsal, Platyspondyly, N... OMIM:609162
Fanconi Anemia, Complementation Group P
Micrognathia, Hypoplasia of the radius, Short thumb, Absent thumb, Microcephaly OMIM:613951
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Micrognathia, Abnormality of the ulna, Triphalangeal thumb, Abnorm... ORPHA:84
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Mandibular pain, Ca... OMIM:607634
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Hip dislocation, Shallow ac... OMIM:605432
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology, M... ORPHA:1508
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Malar flatten... ORPHA:3144
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... ORPHA:321
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly OMIM:619479
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Fanconi Anemia, Complementation Group W
Microcephaly, Abnormality of radial ray, Absent thumb, Hypoplasia of the radius OMIM:617784
Anemia, Congenital Dyserythropoietic, Type Ia
Mild postnatal growth retardation, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocyto... OMIM:224120
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa vara, Hypoplasia of th... OMIM:313400
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Micrognathia, Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of fing... ORPHA:1323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Harrod Syndrome
Failure to thrive, Arachnodactyly, Kyphosis, Dental malocclusion, Abnormality of pelvic girdle bo... ORPHA:2115
Aredyld Syndrome
Cachexia, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of teeth, C... ORPHA:1133
Tarp Syndrome
Micrognathia, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Hypoplasia of the ra... OMIM:311900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Failure to thrive, Short humerus, Short femur, Microcephaly ORPHA:17
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Wolman Disease
Hepatomegaly, Cachexia, Growth delay, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepa... ORPHA:75233
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Bowed forearm bones, Absent radius OMIM:602200
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ivic Syndrome
Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of the radius, Sho... ORPHA:2307
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Camurati-Engelmann Disease
Carious teeth, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, ... ORPHA:1328
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... OMIM:211600
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Radio-Renal Syndrome
Micrognathia, Abnormality of the elbow, Abnormal form of the vertebral bodies, Hypoplasia of the ... ORPHA:3015
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Moebius Syndrome
Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Pes planus, Aplasia/Hy... OMIM:157900
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Short thumb, Absent thu... OMIM:609053
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Grant Syndrome
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Micrognathia, Bow... ORPHA:2097
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Mandibular osteomyelit... OMIM:166600
Acrocraniofacial Dysostosis
Micrognathia, Triphalangeal thumb, Tapered finger, Ulnar deviation of finger, Partial duplication... ORPHA:949
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Al-Gazali Syndrome
Micrognathia, Failure to thrive, Broad distal phalanx of finger, Wrist flexion contracture, Proxi... OMIM:609465
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, In... OMIM:235555
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Broad long bones, Small for gestational age, Limb undergrowth, Platyspondyly, Crum... OMIM:166210
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... ORPHA:392
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Talipes equinovarus, Talipes, Broad distal phalanx of finger, Pes planus, Delayed e... OMIM:300990
Sponastrime Dysplasia
Metaphyseal irregularity, Obtuse angle of mandible, Pes planus, Shallow acetabular fossae, Hip su... ORPHA:93357
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Enlargement of the w... OMIM:277440
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Hepatic fibrosis, Small... OMIM:606003
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive,... OMIM:212140
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement of thumb, Hypop... ORPHA:3103
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Talipes equinovarus, Capitate-hamate fusion, Epiphyseal d... OMIM:272460
Congenital Insensitivity To Pain With Severe Intellectual Disability
Micrognathia, Tibial bowing, Rocker bottom foot, Small for gestational age, Congenital bilateral ... ORPHA:453510
Familial Osteodysplasia, Anderson Type
Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Abnorm... ORPHA:2769
Tibial Hemimelia
Absent tibia OMIM:275220
Occipital Horn Syndrome
Absent tibia, Aplastic clavicle, Pes planus, Humerus varus, Kyphosis, Abnormality of the wrist, C... ORPHA:198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Enlargement of the wrists, Bowing o... OMIM:264700
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Wiedemann-Rautenstrauch Syndrome
Irregular sclerotic endplates, 2-3 toe syndactyly, Failure to thrive, Hypoplastic vertebral bodie... ORPHA:3455
Lacrimoauriculodentodigital Syndrome
Carious teeth, Conical incisor, Radial deviation of the 3rd finger, Absent proximal phalanx of th... OMIM:149730
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Micrognathia, Tibial bowing, Kyphosis, Dentinogenesis imperfecta, Pro... OMIM:259420
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, 2-3 toe syndactyly, Eruption failure, Tapered finger, Failure to thrive, Partial ab... ORPHA:476126
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Enlargement of the wrists, Bowing of the legs, Failure to thrive, ... OMIM:600081
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Acetabular dysplasia, Retrognathia, Femoral bowing, Hypoplasia of the maxilla, Decr... OMIM:616462
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Splenomegaly, Cirrhosis, H... OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit... OMIM:251880
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung deformity ORPHA:1765
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Growth delay, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocyt... OMIM:611490
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... ORPHA:1422
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Failure to thrive, Bo... OMIM:278000
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Talipes equinovarus, Phocomelia, Aplasia of the ulna, Short ribs, ... OMIM:266910
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... ORPHA:93315
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Biparietal narrowing, Dental malocclusion, Abnormality of pelvic girdle bo... ORPHA:3079
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Micrognathia, Triphalangeal thumb, Failure to thrive, Hypoplastic sacra... OMIM:105650
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Short ribs, Joint contracture of th... OMIM:224690
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Small for gestational age, R... ORPHA:555874
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Attrv30M Amyloidosis
Weight loss, Cardiomegaly, Cardiomyopathy ORPHA:85447
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Polydactyly, Hemivertebrae, Postaxial polydactyly, Epiphyseal stippling, Failur... OMIM:302960
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossification of capital f... OMIM:245160
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Micrognathia, Hypoplastic frontal sinuses, Failure to thrive,... ORPHA:90652
Neuraminidase Deficiency
Hepatomegaly, Ascites, Short stature, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegal... OMIM:256550
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Metaphyseal widening, Limited elbow ex... OMIM:250250
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Genu varum, Mandibular prognathia, Hypoplasia of the zygomatic bone, Abnormal hip ... ORPHA:1110
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Platyspondyly, Kyphosis, Short metacarpal, Vertebral compression fr... OMIM:610915
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Hypoplasia of the thymus, An... OMIM:603554
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated he... OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab... ORPHA:860
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Microcephaly, Abnormality of the radius ORPHA:2165
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Deformed humerus, Micrognathia, Dislocated radial head, Hypoplasia of the premaxilla, Mandibular ... ORPHA:2975
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,... OMIM:618641
Alagille Syndrome 1
Hemivertebrae, Failure to thrive, Short distal phalanx of finger, Butterfly vertebral arch, Hypop... OMIM:118450
Duane Retraction Syndrome
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Abnormal... ORPHA:233
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Rhyns Syndrome
Short femoral neck, Radial bowing, Brachydactyly OMIM:602152
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Sclerosteosis 1
Mandibular prognathia, Malar flattening, Deviation of finger, Dental malocclusion, Facial palsy s... OMIM:269500
Charge Syndrome
Micrognathia, Absent tibia, Bifid femur, Hand monodactyly, Hemivertebrae, Malar flattening, Absen... OMIM:214800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short stature, Splenomegaly ORPHA:66518
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Ascites, Cardiomegaly, Cardiomyopathy, Splenomegaly, Cirr... OMIM:235200
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Abnormal vertebral morphology OMIM:276950
Vacterl With Hydrocephalus
Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hypopl... ORPHA:3412
Glycogen Storage Disease Xii
Normocytic anemia, Short stature, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyt... OMIM:611881
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Malar flattening, Absent frontal sinuses, Toe sy... OMIM:211910
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of the radius, Abnormality of the wrist, Abnormality ... ORPHA:3138
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Fanconi Anemia, Complementation Group F
Failure to thrive, Hypoplasia of the radius, Short thumb, Absent thumb, 2-3 finger syndactyly, Mi... OMIM:603467
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morpholo... OMIM:602080
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Abnormality of pelvic girdle bone morphology, Lumbar hyperlordosis, Shoulder gi... OMIM:167320
8Q24.3 Microdeletion Syndrome
Pes valgus, Pes planus, Finger clinodactyly, Short femur, Microretrognathia, Thoracic scoliosis, ... ORPHA:508488
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Limited elbow extension, Abnormalit... ORPHA:175
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teeth, Long toe, Mi... OMIM:619489
Tarp Syndrome
Micrognathia, Rocker bottom foot, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, ... ORPHA:2886
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight lo... ORPHA:53035
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... ORPHA:567983
Hydrolethalus Syndrome 1
Micrognathia, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Saethre-Chotzen Syndrome
Absent first metatarsal, Hallux valgus, Toe syndactyly, Abnormality of pelvic girdle bone morphol... OMIM:101400
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Ectrodactyly, Hypoplasia of the radius ORPHA:3016
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Failure to thrive... OMIM:300373
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal form of the vertebral bodies, Malar flattening, Aplastic clavicle, Abnormally ossified v... ORPHA:2636
Kinsship Syndrome
Micrognathia, Polydactyly, Mandibular prognathia, Failure to thrive, Fibular hypoplasia, Dislocat... OMIM:619297
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Postnatal growth retar... ORPHA:288
Felty Syndrome