Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribosomal protein L38
Synonyms:
Rbt,  Tss,  Ts,  0610025G13Rik

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 Rpl38 mutations

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

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

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

The table below shows human diseases predicted to be associated to Rpl38 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Dwarfism With Tall Vertebrae
Severe short stature, Increased vertebral height, Coxa vara OMIM:126950
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... ORPHA:1436
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral nec... OMIM:184255
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Non-midl... ORPHA:2476
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Encephalocel... OMIM:108720
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Hypochondroplasia
Disproportionate short-limb short stature, Flared metaphysis, Lumbar hyperlordosis, Limited elbow... OMIM:146000
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Short middle phalanx o... OMIM:309620
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati... OMIM:277300
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o... ORPHA:401942
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Large hands, Cleft upper lip, Preaxial hand polydactyly ORPHA:85287
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n... OMIM:122600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Short thorax, Abnormal rib morphology, Abnormal sacrum m... ORPHA:1797
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short neck, Vertebral segmentation defect, Short thorax, Macrocephaly, Abnorma... ORPHA:2311
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... ORPHA:2522
Rhizomelic Chondrodysplasia Punctata, Type 5
Irregular capital femoral epiphysis, Metaphyseal irregularity, Metaphyseal cupping, Contractures ... OMIM:616716
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal sacr... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Dis... OMIM:602557
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Short stature, Pectus excavat... ORPHA:93302
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... ORPHA:93352
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ... ORPHA:64754
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Joint s... ORPHA:40
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, Tho... OMIM:269250
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short... OMIM:118651
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology, Abnormality of the ankle... ORPHA:163665
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature, Abnormal ... ORPHA:93304
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Dental Anomalies And Short Stature
Platyspondyly, Delayed skeletal maturation, Herniation of intervertebral nuclei, Intervertebral s... OMIM:601216
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Isolated Cleft Lip
Conductive hearing impairment, Umbilical hernia, Abnormal Eustachian tube morphology, Chronic oti... ORPHA:199302
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal g... OMIM:611209
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Lumbar scoliosis, Atr... OMIM:600373
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... ORPHA:1801
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Broad thumb, Short 3rd metacar... ORPHA:370010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... OMIM:608681
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Knee contracture, Hip contracture, Irregular vertebral endplates, Osteopenia, Dispr... OMIM:222765
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, Short metacarpal, ... OMIM:608328
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Depressed nasal bridge, Broad phalanges of the hand, Spinal canal stenosis... OMIM:277600
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Acromesomelic Dysplasia 2A
Short tibia, Distal tibiofibular synostosis, Aplasia/Hypoplasia of the patella, Short foot, Dispr... OMIM:200700
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Small for gestational age, Branchial cyst, ... OMIM:615583
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen... OMIM:609223
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Death in infancy, Vertebral segmentation defect, Talipes equinovarus, Bic... OMIM:618845
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Jawad Syndrome
Retrognathia, Prominent nose, Thoracic scoliosis, Postaxial polydactyly, Hallux valgus, Anonychia... OMIM:251255
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Atrial septal defect, Short greater sciatic notch, Patent ductus arteri... ORPHA:1860
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth,... OMIM:186500
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Split foot ORPHA:3434
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Syngnathia
Cleft palate OMIM:119550
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Limitation of joint mobility, Coxa vara, Flared, irregular r... ORPHA:168555
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de... OMIM:620076
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Narrow mouth, Triphalangeal thumb, Abnormal metacarpal morphol... ORPHA:1406
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Small for gestational age, Short tibia,... OMIM:607143
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thoracic k... ORPHA:530983
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Thin upper lip vermilion,... ORPHA:521308
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Short nose, Short toe, Brachydactyly, Sacral dimple, Highly arched eyebrow, Short... ORPHA:1327
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Conductive hearing impairment, Stenosis... ORPHA:1513
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, De... OMIM:300863
Metatropic Dysplasia
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me... OMIM:609324
Kbg Syndrome
Finger clinodactyly, Cervical ribs, Delayed skeletal maturation, Persistent open anterior fontane... ORPHA:2332
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Narrow mouth, Single tr... OMIM:201170
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... OMIM:600121
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio... OMIM:251230
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp... ORPHA:1445
Achard Syndrome
Arachnodactyly, Brachycephaly, Micrognathia, Broad skull OMIM:100700
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Bell-s... ORPHA:56304
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Diprosopus
Anencephaly, Abnormal pinna morphology, Abnormality of the nose ORPHA:1681
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Microhydranencephaly
Hydranencephaly, Pachygyria, Hypoplasia of the brainstem, Prominent nasal bridge, Multiple joint ... OMIM:605013
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, S... OMIM:187760
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... ORPHA:63446
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Sclerotic vertebral endplates, Clavicular sclerosis, ... OMIM:615198
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization,... OMIM:618961
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Obesity, Eunuchoid h... ORPHA:2234
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Short femoral neck, Proximal femora... OMIM:602271
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Short... OMIM:616549
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Bell-shaped thorax, Death in child... OMIM:613320
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Narrow nasal bridge, Inguinal hernia, Hypoplasia of the corpus callosum, Senso... OMIM:618379
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... OMIM:151200
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Odontochondrodysplasia
Platyspondyly, Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, M... ORPHA:166272
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Tarsal sy... ORPHA:1307
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... OMIM:259440
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Myhre Syndrome
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ... OMIM:139210
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Limited elbow movement, Age... OMIM:134780
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Gastroschisis, Talipes equinovarus, Hand polydacty... OMIM:217100
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Situ... OMIM:613686
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Severe short stature, ... OMIM:132400
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... ORPHA:93351
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Broad thumb, Thick lower lip vermilion, Camptodactyly of finger, ... ORPHA:3080
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Abnormal pelvic girdle... OMIM:250250
Miller-Dieker Syndrome
Cerebral cortical atrophy, Anteverted nares, Hypoplasia of the corpus callosum, EEG abnormality, ... ORPHA:531
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Ap... ORPHA:3320
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... OMIM:609616
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Delayed skeletal maturation, Genu valgum, Proportionate short stature, Flat capita... OMIM:608361
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Abnormal rib mo... ORPHA:93298
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Absent toenail,... ORPHA:3258
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Short foot, Clinodact... ORPHA:915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata... OMIM:210710
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing o... OMIM:601559
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ... OMIM:620073
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Cerebral cortical atrophy, Hydranencephaly, Camptodactyly of finger, Aplasia/Hypopl... ORPHA:2570
Greenberg Dysplasia
Platyspondyly, Narrow chest, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis b... ORPHA:1426
Osteogenesis Imperfecta, Type X
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone... OMIM:613848
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Congenital d... ORPHA:2143
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Atrial... OMIM:607323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... OMIM:612447
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Depressed nasal ridge, ... ORPHA:163966
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Delayed skeletal maturation, Short femoral neck, Intrauter... OMIM:617396
ERI1-related disease
Micrognathia, Finger joint hypermobility, Dislocated radial head, Sparse hair, Hip dislocation, S... OMIM:608739
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Cutaneous mastocytos... OMIM:248910
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Failure to thrive in infancy, Broad ribs, Osteomyelitis, Joint swelling, Flaring of r... OMIM:612852
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha... OMIM:184460
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Omphalo... ORPHA:63862
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... ORPHA:666
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Oxycephaly, Hepatosplenomegaly, Shor... ORPHA:221054
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Plantar pi... OMIM:109400
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Widely-spaced maxillary central incisors, Cleft palate OMIM:601349
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Short thorax, Micromelia, Umbilical hernia, Abnormal enchondr... ORPHA:93299
Gorlin Syndrome
Abnormal vertebral morphology, Wide nasal bridge, Palmar pits, Plantar pits, Vertebral wedging, A... ORPHA:377
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Slc35A2-Cdg
Short tibia, Lateral ventricle dilatation, Talipes equinovarus, Osteopenia, Failure to thrive in ... ORPHA:356961
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Decreased skull ossification, Short neck, Short stature, S... ORPHA:3319
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Wide nasal bridge, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Depressed nasal bridge, Abnormal B cell morphology, Conductive hearing impairment, ... OMIM:616910
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell... OMIM:614524
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Omphalocele, Postax... OMIM:603194
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Squared iliac bones, Knee dislocation, Thoracic scoliosis, Cervical C2/C3 vertebral f... OMIM:618000
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short nose, Microgna... ORPHA:93328
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Failure to thrive, Anteverted nares, Short humerus... ORPHA:420794
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Wide nasal bridge, Clinodactyly, ... ORPHA:166024
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteri... ORPHA:1908
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Failure to thrive, Delayed... ORPHA:52
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Failure to thrive, Intrauterine growth retardation, Hamstring cont... ORPHA:96183
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Micrognathia, Symphalangism affecting the phalan... ORPHA:2990
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Growth delay, Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusi... OMIM:617333
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Choanal atresia, Underdeveloped nasal alae, Hyperextensibilit... ORPHA:163979
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Limited elbow extension, Aplasia/Hypoplasia of the thumb... OMIM:216100
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Failure to thrive, Increased bone mineral density, Ankylosis, Barrel-shaped... OMIM:239000
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Failure to thr... ORPHA:337
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Micrognathia, Microcephaly, Dela... ORPHA:217340
Microphthalmia With Limb Anomalies
Synostosis of joints, Postaxial foot polydactyly, Toe syndactyly, Synostosis of carpal bones, Sho... ORPHA:1106
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Split hand, Aplasia/Hypoplasia... ORPHA:2491
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Mi... ORPHA:1507
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Abnormal ulnar meta... ORPHA:85198
Hyperparathyroidism, Transient Neonatal
Thin ribs, Fractured rib, Patent ductus arteriosus, Osteopenia, Femoral bowing, Undulate ribs, Sh... OMIM:618188
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Disproportionate short-trunk sh... ORPHA:457395
Acalvaria
Spina bifida, Omphalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Cleft pa... ORPHA:945
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Intrauterin... OMIM:312150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Pate... OMIM:218600
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Achondroplasia
Flat acetabular roof, Disproportionate short stature, Thoracic hypoplasia, Cervical spinal canal ... ORPHA:15
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Spr... OMIM:213980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Disproportionate short-limb short stature, Thoracic hypoplasi... OMIM:608728
Catel-Manzke Syndrome
Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Micrognathia, Genu... OMIM:616145
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... OMIM:615220
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... ORPHA:1159
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Genu valgum, Intervertebral space narrowing, Radial head subluxation, Patellar disl... OMIM:614078
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Talipes, Short neck, Weight loss, Atrial septal defect, Metaphyseal dysplasia... ORPHA:1842
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Di... OMIM:613330
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Depressed nasal bridge, Hyperphosphatemia, Postnatal growth retardation, Hypocalcem... OMIM:241410
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis, Short stature OMIM:617383
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... OMIM:128980
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Short stature, Spina bifida occulta, Pectus excavatum, Fus... OMIM:619227
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... ORPHA:429
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Radial bowing, Short tibia, S... OMIM:201250
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Sho... OMIM:617974
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Failure to thrive, Abnormal heart morphology, Obesity, Micrognathi... ORPHA:261197
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Cubitus valgus, Short foot, Short nose OMIM:300577
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment, Cerebral atrophy, Agenesis of corpus callosum, Partial ... ORPHA:85179
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Hydrocephalus, Cleft palate OMIM:258320
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... OMIM:265000
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Disproportionate short-limb short stature, S... ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... ORPHA:99642
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Severe short stature, Toe syndactyly, Short thumb, Abnormality of ... ORPHA:2319
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped chest, Hip contracture, Ventricular... OMIM:178110
Waardenburg Syndrome Type 1
Wide nasal bridge, Mandibular prognathia, Hypopigmented skin patches, Underdeveloped nasal alae, ... ORPHA:894
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... OMIM:146510
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Intrauterin... OMIM:253290
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Underdeveloped nasal alae... OMIM:148050
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Talipes equinovarus... OMIM:150250
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... OMIM:303110
Diastrophic Dysplasia
Neonatal short-limb short stature, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Dis... OMIM:222600
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly, Dolichocephaly ORPHA:1931
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Robinow Syndrome
Flared nostrils, Micrognathia, Ventricular septal defect, Atrial septal defect, Mesomelic arm sho... ORPHA:97360
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax... OMIM:255710
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Hypoplasia of the brainstem, Bulbous nose, Anteverted nares, Cereb... OMIM:236500
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Pierpont Syndrome
Broad nasal tip, Prominent fingertip pads, Short toe, Short finger, Deep plantar creases, Failure... OMIM:602342
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Intrauterine growth retardation, Cub... ORPHA:1326
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal ... OMIM:102370
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... OMIM:119580
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Inguinal hernia, Talipes... OMIM:211960
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Hypoplastic left heart, Microretrognathia, Short tibia, Sandal gap, Short thumb... ORPHA:1972
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Talipes equinovarus, Cleft ... OMIM:613885
Opsismodysplasia
Broad thumb, Hypoplastic ischia, Short nose, Flat occiput, Delayed skeletal maturation, Brachydac... ORPHA:2746
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck, Short stature ORPHA:2015
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Micrognathia, Genu valgum, Anterior concavi... OMIM:309350
Pde4D Haploinsufficiency Syndrome
Broad metacarpals, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short ... ORPHA:439822
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Di... OMIM:184250
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minima... ORPHA:1190
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,... OMIM:206920
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Osteogenesis Imperfecta, Type Xix
Severe short stature, Pectus carinatum, Osteopenia, Rhizomelia, Vertebral wedging, Bowing of the ... OMIM:301014
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, Flat acetabular roof, ... ORPHA:163649
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Hydroceph... ORPHA:3016
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Flat acetabular roof, Patent ductus arteriosus, H... OMIM:616300
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion... ORPHA:313892
Pallister-Hall-Like Syndrome
Microglossia, Postaxial foot polydactyly, Toe syndactyly, Micromelia, Occipital encephalocele, Me... OMIM:241800
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... OMIM:617796
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ... ORPHA:3219
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Delayed ske... OMIM:602111
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa... OMIM:619345
Thanatophoric Dysplasia, Type I
Neonatal death, Bowing of the long bones, Short neck, Short greater sciatic notch, Cloverleaf sku... OMIM:187600
Bruck Syndrome 1
Platyspondyly, Pectus carinatum, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow f... OMIM:259450
Sanjad-Sakati Syndrome
Depressed nasal bridge, Hyperphosphatemia, Low-set, posteriorly rotated ears, Abnormal dental ena... ORPHA:2323
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi... ORPHA:2619
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Delayed skeletal maturat... ORPHA:1837
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Pectus carinatum, Depressed nasal bridge, Toe syndactyly, Umbilical hernia, Anteverted nares, Mic... ORPHA:171839
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Thin calvarium, Microgna... ORPHA:2437
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte... OMIM:143095
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Mac... ORPHA:2180
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of... OMIM:617926
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Short neck, Short foot, Plagiocephaly, Bulbous nose, Low anterior ha... OMIM:613776
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Spinal canal stenosis, Long hallux, Cone-shaped epiphy... OMIM:101800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Intrau... ORPHA:1914
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Decreased body ... OMIM:609053
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Spinal canal stenosis, Intrauterine growth retardation, Vertebral seg... ORPHA:1724
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Proportionate short stature, Osteoarthritis, Short ... ORPHA:93283
Zechi-Ceide Syndrome
Short distal phalanx of finger, Sandal gap, Cleft upper lip, Oligodontia, Short metatarsal, Cleft... OMIM:612916
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Patchy distortion of ver... OMIM:155050
Cog1-Cdg
Posterior rib gap, Osteopenia, Rhizomelia, Wide nasal bridge, Failure to thrive, Postnatal growth... ORPHA:263508
Weiss-Kruszka Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Dysplastic corpus callosum, Promi... ORPHA:502430
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Ruvalcaba Syndrome
Pectus carinatum, Narrow chest, Small hand, Synostosis of carpal bones, Cone-shaped epiphysis, Mi... ORPHA:3121
3Q29 Microdeletion Syndrome
Pectus carinatum, Failure to thrive, Clinodactyly of the 5th finger, Prominent nasal bridge, Join... ORPHA:65286
Congenital Herpes Simplex Virus Infection
Microcephaly, Intrauterine growth retardation, Hydranencephaly ORPHA:293
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia, Postaxial hand polydactyly ORPHA:2917
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Micrognathia, Agenesis of corpus callosum, Arachnodactyly, Talipes... ORPHA:280
Coccidioidomycosis
Abnormality of the vertebral column, Abnormality of the spleen, Broad ribs, Osteomyelitis, Abnorm... ORPHA:228123
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Brachycephaly, Sprengel anomaly, Short n... ORPHA:1394
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio... OMIM:618363
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... OMIM:184100
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra... OMIM:610967
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Lobar holoprosencephaly, Non-midline... ORPHA:2117
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... OMIM:166210
Three M Syndrome 1
Postnatal growth retardation, Short neck, Hip dislocation, Short 5th finger, Joint dislocation, D... OMIM:273750
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Cleft pa... ORPHA:376
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Abnormality of the outer ear, Conductive hearing impairment, Atresia... ORPHA:79113
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Adenylosuccinate Lyase Deficiency
Low-set ears, Anteverted nares, Hypointensity of cerebral white matter on MRI, Microcephaly, Shor... ORPHA:46
Ruvalcaba Syndrome
Narrow chest, Small hand, Kyphosis, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited e... OMIM:180870
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Microcephaly, Brachycephaly, Convex na... ORPHA:1695
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbel... ORPHA:440354
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster... ORPHA:166016
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Failure to thrive, Pachygyria, Recurrent otitis media, Anteverted nares, ... ORPHA:513456
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Occipital Horn Syndrome
Genu valgum, Pes planus, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited knee... OMIM:304150
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Metaph... ORPHA:175
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip bone morphology, Hyperlordos... ORPHA:577
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Umbilical hernia, Oxycephaly, Preaxi... ORPHA:65759
Meckel Syndrome, Type 10
Occipital encephalocele, Cerebellar hypoplasia, Camptodactyly, Anencephaly, Abnormal pinna morpho... OMIM:614175
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Wolf-Hirschhorn Syndrome
Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Talipes equinovarus, Radiou... OMIM:194190
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Ethmoi... OMIM:607597
Even-Plus Syndrome
Severe short stature, Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of ... OMIM:616854
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Micrognathia, Neonatal death, Short neck, Tetralogy of Fallot, Long thorax, Horizont... OMIM:617925
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Umbilical hernia, Severe postnatal growth retardation, Omphalocele, Wide ... OMIM:275100
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Donnai-Barrow Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Umbilical hernia, Apla... OMIM:222448
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Recurrent pneumonia, Camptodactyly of finger, Intrauterine growth retardation, Hyp... ORPHA:1495
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Tapered finger, Short stature, Flat acetabular roof, Short femora... OMIM:617159
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Abnormal form of the vertebral bodies,... ORPHA:2839
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan... OMIM:615777
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft of the upper lip ORPHA:2007
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum, Short philtrum OMIM:613192
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis... OMIM:122860
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Encephalocele, Perical... ORPHA:398156
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Achondrogenesis
Severe short stature, Narrow chest, Short thorax, Micromelia, Umbilical hernia, Abnormal enchondr... ORPHA:932
Koolen-De Vries Syndrome
Pear-shaped nose, Narrow palm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal de... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Arachnodactyly, Long toe, Large hands, Cleft palate OMIM:300263
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Umbilical hernia, Oligodactyly, Median pseudocleft lip, Clinodactyly of the 5th finger, Short foo... OMIM:619758
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Progressive microcephaly, Dandy-Walker malformation, Short nose, Short st... ORPHA:438178
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Plagiocephaly, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synos... OMIM:618577
Brachyolmia Type 2
Platyspondyly, Short stature OMIM:613678
Leri Pleonosteosis
Genu recurvatum, Severe short stature, Broad thumb, Abnormal epiphysis morphology, Abnormal form ... ORPHA:2900
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly OMIM:182940
Hypertelorism-Microtia-Facial Clefting Syndrome
Severe short stature, Bifid nasal tip, Conductive hearing impairment, Atresia of the external aud... ORPHA:2213
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... ORPHA:263463
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Treacher Collins Syndrome 4
Microcephaly, Choanal stenosis, Conductive hearing impairment OMIM:618939
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Choanal atresia, Short thumb, Supernumerary vertebrae, Abnormal foot ... OMIM:263750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Stillbirth, Intrauterine growth retardation, Neonatal death, Bowing of the l... OMIM:619751
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Long eyelashes, Thick eyebrow, Generalized ... ORPHA:1514
Trisomy 20P
Finger syndactyly, Micrognathia, Low posterior hairline, Short neck, Short nose, Plagiocephaly, P... ORPHA:261318
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Disproportionate short-limb short stature, Short nose OMIM:618618
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus callosum, Hypopla... OMIM:277170
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Recurrent fractures, Decreased calvarial oss... OMIM:616229
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Developmental And Epileptic Encephalopathy 63
Bulbous nose, EEG with generalized epileptiform discharges, Conductive hearing impairment, Cerebr... OMIM:617976
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Irregularity of vertebral bodies, ... ORPHA:85172
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short toe, Sandal gap, Delayed skeletal maturation, Short 5th metacarpal, 11 pairs of... OMIM:617877
Ulbright-Hodes Syndrome
Thin ribs, Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradial synostosis, ... ORPHA:3404
Zttk Syndrome
Small hand, Ventricular septal defect, Atrial septal defect, Short foot, Patent ductus arteriosus... OMIM:617140
Aicardi Syndrome
Block vertebrae, Lateral ventricle dilatation, Postnatal growth retardation, Anteverted nares, Bu... OMIM:304050
Ravine Syndrome
Abnormal basal ganglia morphology, Abnormal auditory evoked potentials, Failure to thrive, Decrea... ORPHA:99852
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Hearing impairment, Bro... ORPHA:557003
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Encephalocele, Talipes equinovarus,...