Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
WD repeat domain 35
Synonyms:
4930459M12Rik

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 Wdr35 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 Wdr35 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Wdr35 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Postaxial foot polydact... ORPHA:93403
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 6 metacarpals, Postaxial foot polydactyly, Finger synd... OMIM:186000
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Brachydactyly, Polydactyly OMIM:617405
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Bone Dysplasia, Lethal, Holmgren Type
Short ribs, Narrow chest, Bell-shaped thorax OMIM:211120
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Acrocapitofemoral Dysplasia
Cupped ribs, Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Stillbirth, Atypical scarring of skin, Syndactyly, Abnormal thorax ... ORPHA:294975
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly, Pectus excavatum... OMIM:605967
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... ORPHA:1801
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Hypoplasia of deltoid muscle, Unilateral ... OMIM:173800
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Czeizel-Losonci Syndrome
High palate, Posterolateral diaphragmatic hernia, Myelomeningocele, Single transverse palmar crea... ORPHA:2437
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Short ribs, Delayed pubic bone ossification, Enlarged epiph... OMIM:613330
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Bell-shap... OMIM:187760
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Finger symphalangism, Symphalang... ORPHA:3246
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial sept... ORPHA:1120
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Metaphyseal widening, Short ribs, Micrognathia, Metap... OMIM:614524
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Congenital diaphragmatic hernia, P... ORPHA:380
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short ribs, Polydactyly, Short long bone, Narrow chest OMIM:613819
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum OMIM:618155
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Abnormality of the diaphragm, Intestinal malrotation, Clinodactyly of the 5th fin... OMIM:601163
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Rudimentary fibula, Hypoplasia of the ulna, Finger... ORPHA:958
Schisis Association
Anencephaly, Tracheoesophageal fistula, Anal atresia, Congenital diaphragmatic hernia, Omphalocel... ORPHA:63862
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Patent ductus arter... ORPHA:2847
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios, Thoracic hypo... OMIM:613124
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Vacterl/Vater Association
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Occipital encephalocele, Anencephaly, Tracheo... ORPHA:887
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Micro... OMIM:602557
Hyperparathyroidism, Transient Neonatal
Short ribs, Thin ribs, Narrow chest, Femoral bowing OMIM:618188
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Thoracic Dysplasia-Hydrocephalus Syndrome
Short ribs, Narrow chest, Thoracic dysplasia, Limb undergrowth OMIM:273730
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula, Polyhydramnio... ORPHA:261272
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Thin ribs, Metaphyseal cupping, Flat acet... OMIM:151210
Heyn-Sproul-Jackson Syndrome
Short metacarpal, 11 pairs of ribs, Short phalanx of finger, Broad metacarpals, Broad phalanx OMIM:618724
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Micr... OMIM:617895
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia,... ORPHA:171719
Fetal Encasement Syndrome
Bilateral trilobed lungs, Tetralogy of Fallot, Upper limb undergrowth, Congenital diaphragmatic h... OMIM:613630
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Abnormal heart morphology, Hip disloc... OMIM:614100
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Broad palm, Metaphyseal widening, Genu valgum, Brachy... OMIM:250420
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Prea... OMIM:615503
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Pectus excavatum, Sh... OMIM:618167
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Short ribs, Squared iliac bones, Limb undergrowth, Short long bone, Metaphyseal wi... OMIM:618961
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Missing ribs, Abnormality of pelvic gird... ORPHA:1834
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Hip di... OMIM:241800
Diaphanospondylodysostosis
Myelomeningocele, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Achondrogenesis, Type Ib
Short ribs, Micromelia, Narrow chest, Umbilical hernia, Hypoplastic ilia OMIM:600972
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Palmoplantar blistering, Congenital diaphragmatic hernia OMIM:226735
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Brachydactyly, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Cone-shaped epiphyses of th... OMIM:615630
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of epiphysis morphology, Short ribs, Rhizomelia, Micromeli... ORPHA:1842
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Abnormal rib morphology, Intestinal atresia, Tracheal stenosis, Abnorm... ORPHA:93941
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Congenital Diaphragmatic Hernia
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pro... ORPHA:2140
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Anencephaly, Short ribs, Aplastic clavicle, Preaxial polyd... OMIM:616546
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Severe Congenital Nemaline Myopathy
Increased connective tissue, Flexion contracture, Nemaline bodies, Skeletal muscle atrophy, Abnor... ORPHA:171430
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic lef... OMIM:615524
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Oligohydramnios, Hydrops fetalis, Narrow chest... OMIM:617022
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Esophagitis, Abnormal lung lobation, Abnormality of the humerus, Rectovaginal fistul... ORPHA:2538
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... OMIM:228520
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short thorax, Short palm, Hydro... ORPHA:85166
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Barrel-shaped che... OMIM:200600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Clinoda... OMIM:236500
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Congenital diaphragmatic her... ORPHA:1488
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Internally rotated shoulders, Flexion contracture, Elbow flex... OMIM:617468
Craniofrontonasal Dysplasia
Brachydactyly, High palate, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Sandal... ORPHA:1520
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Overlapping fingers, Knee flexion contracture, Unilateral wrist flexion contracture, Arthrogrypos... OMIM:616531
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Broad ... OMIM:200610
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed pubic bone ossification, Mi... ORPHA:93296
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Absent radius, Atrioventricular canal defect, Tracheoesophageal fistula, Hand polydactyly, Anal a... OMIM:314390
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Delpire-Mcneill Syndrome
Hip dislocation, Tracheoesophageal fistula, Dysphagia, Ventricular septal defect OMIM:619083
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, Bowing of the long bones, Short long bone, Short ribs, Thoracic dysplasia, Hypopla... OMIM:614091
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Metaphyseal widening, Congenital diaphragmatic hernia, Omphalocele, Abnormal... OMIM:263210
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Metaphyseal widening, Short ribs... OMIM:224400
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micromelia... OMIM:256050
Congenital Contractural Arachnodactyly
High palate, Flexion contracture, Intestinal malrotation, Tracheoesophageal fistula, Congenital c... ORPHA:115
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
Pentalogy Of Cantrell
Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Atrial septal defect, Split ... ORPHA:1335
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Malabsorption, Patent ductus arteriosus, Abnormal cardiac septum... ORPHA:99811
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Skeletal muscle atrophy, Inc... OMIM:616867
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Skeletal muscle atrophy, Clinodactyly of the 5th finger, Tracheoeso... ORPHA:3068
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... OMIM:615633
Fibrochondrogenesis
Brachydactyly, Camptodactyly of finger, Short ribs, Hypoplastic scapulae, Abnormal rib morphology... ORPHA:2021
Mosaic Trisomy 1
Absent distal interphalangeal creases, Hand clenching, Ventricular septal defect, Cleft palate, 2... ORPHA:1692
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Pectus excavatum, Short dista... ORPHA:957
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Micrognathia, Spina bifida, Aplasia/Hypoplasia of the ribs, ... ORPHA:2839
Minicore Myopathy With External Ophthalmoplegia
High palate, Minicore myopathy, Increased connective tissue, Nemaline bodies, Skeletal muscle atr... OMIM:255320
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short femoral neck, Short ribs, Rhizomelia, Short humerus, Short ... OMIM:610319
Infantile Myofibromatosis
Tracheoesophageal fistula, Abnormal thorax morphology, Chondrocalcinosis, Neoplasm of the lung, A... ORPHA:2591
Renal Tubular Dysgenesis
Tetralogy of Fallot, Bilateral single transverse palmar creases, Polyhydramnios, Oligohydramnios,... ORPHA:3033
Trisomy 1Q
Toe syndactyly, Short thorax, Patent ductus arteriosus, Hydrops fetalis, Anal atresia, Abnormal r... ORPHA:261344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Flexion contracture, Short ribs, Hydrops fetalis, Decreased fibular diameter, H... OMIM:616897
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Abnormal thorax morphology, Arthrogryposis multiplex congenita, Hypoplas... OMIM:253310
Serkal Syndrome
Malrotation of small bowel, Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:139466
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Pectus excavatum, Inguinal hernia, Long fingers, C... OMIM:614294
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Short ribs, Irregular carpal bones, Soft tissue swell... OMIM:252600
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Abnormal rib morphology, Congenital diaphragmatic hernia, Inguin... ORPHA:2311
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Short long bone, Postaxial foot polyd... OMIM:225500
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Lethal Kniest-Like Dysplasia
Brachydactyly, Anterior rib cupping, Hypoplastic vertebral bodies, Short ribs, Flared metaphysis,... ORPHA:2347
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Prieto Syndrome
Clinodactyly, Coxa valga, 11 pairs of ribs, Talipes equinovarus, Radial deviation of finger OMIM:309610
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Frontal encephalocele ORPHA:261102
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Brachydactyly Type B
Synostosis of carpal bones, Broad hallux phalanx, Symphalangism affecting the phalanges of the ha... ORPHA:93383
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Short thorax, Patent ductus arteriosus, Atrial septal d... ORPHA:2655
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short ribs, Squared iliac bones, Metaphyseal cupping, Micromelia, Bell-shaped... OMIM:613320
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Three M Syndrome 1
Slender long bone, Short thorax, Short ribs, Clinodactyly of the 5th finger, Short 5th finger, Pe... OMIM:273750
Greenberg Dysplasia
11 pairs of ribs, Broad palm, Micromelia, Absent distal phalanges, Abnormal lung lobation, Narrow... OMIM:215140
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Upper limb asymmetry, Aplasia/Hypoplasia of the lungs, Abnormality of fibula morphology, Anal atr... ORPHA:2063
Xp22.13P22.2 Duplication Syndrome
High palate, Recurrent upper respiratory tract infections, 2-3 toe syndactyly, Tapered finger, Co... ORPHA:284180
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Patent duct... ORPHA:141127
Tonne-Kalscheuer Syndrome
Brachydactyly, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Abnormal heart morp... OMIM:300978
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Broad palm, Hamartoma of tongue, Inguinal hernia, Ventricular septal defect, Med... OMIM:269860
Dysosteosclerosis
Narrow iliac wing, Clavicular sclerosis, Absent paranasal sinuses, Progressive bowing of long bon... OMIM:224300
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Hypoplastic heart, Polyhydramnios, Short finger, Amyoplasia, Edem... OMIM:312150
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Short long bone, Delayed ossification of carpal b... OMIM:184260
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Sirenomelia, Abnormal intestine morphology, Oligohydramnios, Cleft pal... ORPHA:1848
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia ORPHA:3032
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality o... ORPHA:1166
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Missing ribs, Short thorax, Abnormal rib morphology, Spina bifida occulta, Rib ... OMIM:613686
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Focal Dermal Hypoplasia
Upper limb asymmetry, Diastasis recti, Hernia, Inguinal hernia, Spina bifida, Ventricular septal ... ORPHA:2092
Acrocallosal Syndrome
Triphalangeal thumb, Congenital diaphragmatic hernia, Abnormal clavicle morphology, Inguinal hern... ORPHA:36
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Omphalocele, Lower limb undergrowth, Short lower limbs, Pu... OMIM:236640
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Hypoplastic heart, Polyhydramnios, Short finger, Amyoplasia, Edem... OMIM:253290
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Myelomeningocele, Brachydactyly, Her... ORPHA:94065
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly, Syndactyly OMIM:610140
Kagami-Ogata Syndrome
Flexion contracture, Coxa valga, Patent ductus arteriosus, Diastasis recti, Atrial septal defect,... OMIM:608149
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Co... OMIM:166300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Irregular epiphyses, Hypoplasia of the ulna, Foot polydactyly, Me... OMIM:208500
Orofaciodigital Syndrome Xviii
Brachydactyly, Cervical ribs, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, ... OMIM:617927
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Esophageal Atresia
Clinodactyly, Gastrointestinal dysmotility, Anorectal anomaly, Dysphagia, Ventricular septal defe... ORPHA:1199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Neonatal death, Short long bone, Thoracic hypoplasia, Talipes equinovar... OMIM:224410
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Hydrops fetalis, Aplasia/Hypoplasia involving the pe... ORPHA:2879
Kniest-Like Dysplasia, Lethal
Brachydactyly, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Rhizomelia, Fl... OMIM:245190
Methimazole Embryofetopathy
Polyhydramnios, Tracheoesophageal fistula, Ventricular septal defect, Esophageal atresia ORPHA:1923
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Skeletal muscle atrophy, Abnormal rib morphology, Polyhydramnios, S... ORPHA:1486
Congenital Tracheomalacia
Tracheomalacia, Single ventricle, Ventricular septal defect, Cardiomegaly, Emphysema, Recurrent u... ORPHA:95430
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Thin ribs, Metaphyseal cupping of proximal phalanges, Metaphyseal c... OMIM:300863
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Broad long bones, Bowing of the legs, Short ribs, Short phalanx of fing... OMIM:271665
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Short ribs, Abnormal rib morphology, Postaxial hand polydactyly, Abnormal sternum morphology, Bro... ORPHA:2519
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Micromelia, Abnormality of femur morphology, Short hu... ORPHA:2019
Rhombencephalosynapsis
Finger syndactyly, Tracheoesophageal fistula, Aganglionic megacolon, Short phalanx of finger, Eso... ORPHA:59315
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphis... ORPHA:63260
Sirenomelia
Tracheoesophageal fistula, Anal atresia, Sirenomelia, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:3169
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Short thorax, Hydrops fetalis, Abnormal rib morphology, Femoral ... ORPHA:93298
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestinal malrotation, Trac... ORPHA:210122
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia, Pectus excavatum, Inguinal hernia, Recurrent respirat... OMIM:219100
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Muscular ventricular septal defect, Esophageal atresia, Pectus excavat... OMIM:619227
Alg3-Cdg
Lipodystrophy, High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone m... ORPHA:79321
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia, Patent ductus arteriosus, Tracheoesophageal fistula, Esop... OMIM:300514
Weaver Syndrome
Clinodactyly, Calcaneovalgus deformity, Coxa valga, Short ribs, Flared humeral metaphysis, Flared... OMIM:277590
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Hamartoma of tongue, Ventricular septal defect, Polysyndactyly of hallux, Narrow... OMIM:263520
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Pulmonic stenosis, Truncus a... OMIM:615415
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs, Meningocele ORPHA:1759
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Flexion contracture, Congenital diaphragmatic hernia, Pectus excavatu... OMIM:208050
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Short thorax, Short palm, Hydrops fetalis, Femoral hernia, Micro... ORPHA:93299
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Anorectal anomaly, Recurrent respiratory infections, Furrowed tongue, ... ORPHA:1839
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Hypoplasia of the radius, Anal atresia, Esophageal atresia, Inguinal h... ORPHA:3412
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Encephalocele, Patent ductus arteriosus, Short ribs, Lobulated tongue, Preaxial ... OMIM:616300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Elbow flexion contracture, Interphalangeal joint contracture of finger ORPHA:1145
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Polydactyly, Hypoplastic left he... OMIM:301022
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Flared, irregular rib ends, Short palm, Coxa vara ORPHA:168555
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short femoral neck, Short ribs, Cone-shaped epiphysis, Short phalanx of finger, Hypoplasia of the... OMIM:266920
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Laryngotracheal stenosis, Neoplas... ORPHA:142
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intestinal malrotation, Tibial bowing, Abnormality of fibula morphology... ORPHA:3035
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Abnormality of pelvic girdle bone morphology, Finger syndactyly, Patent ductus ar... ORPHA:1112
Congenital Hypothyroidism
Abnormal pericardium morphology, Abnormality of epiphysis morphology, Tracheoesophageal fistula, ... ORPHA:442
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hypoplastic ischia, Encephalocele, Flexion contracture, Hypoplastic pubic bon... ORPHA:1865
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Acrorenal-Mandibular Syndrome
Rudimentary fibula, High palate, Narrow palate, Missing ribs, Foot polydactyly, Toe syndactyly, H... OMIM:200980
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, 11 pairs of ribs, Triphalangea... OMIM:201170
8P23.1 Microdeletion Syndrome
High palate, Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Tapered ... ORPHA:251071
Multiple Pterygium Syndrome, Escobar Variant
High palate, Dislocated radial head, Bilateral camptodactyly, Rocker bottom foot, Congenital diap... OMIM:265000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Small cervical vertebral bodies, Abnormal 5th metacarpal morphology, Occipital enc... ORPHA:397715
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Atrial septal defect, Intestinal malrotation, Anal atresia, Pectus excavatum, Congen... OMIM:617602
Tracheal Agenesis
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Tracheal atresia, Abnormal cardiac septum morpho... ORPHA:3346
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, ... ORPHA:2143
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Generalized amy... OMIM:616866
Fryns Syndrome
High palate, Ectopic anus, Tetralogy of Fallot, Intestinal malrotation, Gastroesophageal reflux, ... ORPHA:2059
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Tracheomalacia, Short palm, Hydrops fetalis, Tracheoesophageal fistula, Congeni... ORPHA:268249
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short thorax, Posterior rib fusion, Abnormal rib morphology, Spina bifida occulta ORPHA:1797
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Abnormality of the hand, Abnormal rib morphology, Micromelia, Short ... OMIM:251230
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Ventral hernia, Diastasis recti, Abnormal thorax m... ORPHA:2369
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Later... ORPHA:3144
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Abnormal rib morphology, Narrow chest, Cleft palate, Encephalocel... ORPHA:90652
Emanuel Syndrome
High palate, Patent ductus arteriosus, Atrial septal defect, Gastroesophageal reflux, Congenital ... OMIM:609029
Emanuel Syndrome
High palate, Ectopic anus, Bifid uvula, Supernumerary ribs, Multiple joint contractures, Patent d... ORPHA:96170
Atelosteogenesis Type I
Brachydactyly, Malrotation of colon, Rhizomelia, Abnormality of fibula morphology, Laryngotrachea... ORPHA:1190
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Micrognathia, Abnormal r... OMIM:224690
Diaphanospondylodysostosis
Missing ribs, Tracheomalacia, Hammertoe, Inguinal hernia, Bell-shaped thorax, Increased nuchal tr... OMIM:608022
2Q37 Microdeletion Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Tracheomalacia, Short palm, Short metacarpal, C... ORPHA:1001
Aphalangy With Hemivertebrae
Aphalangy of hands and feet, Aplasia of the phalanges of the toes, Ventricular septal defect, Aph... OMIM:207620
Cree Mental Retardation Syndrome
Rocker bottom foot, Micrognathia, Pectus excavatum, Aplasia/Hypoplasia of the ribs, Cutaneous fin... OMIM:606851
Thoracoabdominal Syndrome
Ventral hernia, Ectopia cordis, Patent ductus arteriosus, Anencephaly, Congenital diaphragmatic h... OMIM:313850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, 11 pairs of ribs, Tracheoesophageal fistula, Esophageal atresia, Ventri... ORPHA:77298
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Iliac horns, Disproportionate prominence of the ... OMIM:161200
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of the 5th finger, Abnormal aort... ORPHA:84
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Small thenar eminence, Encephalocele, Single transverse palmar crease, Patent ductus... OMIM:619148
Marden-Walker Syndrome
High palate, Joint contracture of the hand, Zollinger-Ellison syndrome, Dextrocardia, High, narro... OMIM:248700
Feingold Syndrome 1
High palate, 4-5 toe syndactyly, 2-3 toe syndactyly, Patent ductus arteriosus, Aplasia/Hypoplasia... OMIM:164280
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Thakker-Donnai Syndrome
Rectovaginal fistula, Tetralogy of Fallot, Tracheoesophageal fistula, Anal atresia, Congenital di... ORPHA:1780
Spondylocostal Dysostosis 5
Missing ribs, Posterior rib fusion, Supernumerary ribs, Pectus carinatum OMIM:122600
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Ventricular septal defect, Rectovaginal fistula, Pseudoepiphyses of second... OMIM:107480
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Short ribs, Clinodactyly of the 5th finger, Metaphyseal chondrodysplasi... OMIM:156400
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short tibia, Short humerus, Talipes... OMIM:607143
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Short thorax, Hydrops fetalis, Inguinal hernia, Micromelia, Poly... ORPHA:932
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Vater/Vacterl Association
Tetralogy of Fallot, Patent ductus arteriosus, Absent radius, Occipital encephalocele, Preaxial p... OMIM:192350
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Trisomy 18
Abnormal hip bone morphology, Deviation of finger, Hernia, Atrial septal defect, Oligohydramnios,... ORPHA:3380
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Abnormal aortic valve morphology, Dextrocardia, Co... ORPHA:261197
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Stuve-Wiedemann Syndrome 1
Smooth tongue, Dysphagia, Short tibia, Bowing of the long bones, Single transverse palmar crease,... OMIM:601559
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Patent foramen ovale, Sandal gap, Gastroesophageal reflux, Rectal prol... OMIM:613177
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Horizontal ribs, Tetralogy of Fallot, Hypoplastic pubic b... OMIM:617925
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, 11 pairs of ribs, Sandal gap, Bilateral elbow dislocations, Inguinal hernia... OMIM:245600
Mosaic Trisomy 16
Clinodactyly, Abnormality of the gastrointestinal tract, Single transverse palmar crease, Patent ... ORPHA:1708
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Ventricular septal defect, Atrioventricular cana... ORPHA:392
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Opitz Gbbb Syndrome
High palate, Ectopic anus, Tracheomalacia, Patent foramen ovale, Patent ductus arteriosus, Atrial... ORPHA:2745
Zaki Syndrome
High palate, Toe syndactyly, Patent foramen ovale, Patent ductus arteriosus, Congenital diaphragm... OMIM:619648
Hypophosphatasia, Infantile
Bowing of the legs, Short ribs, Rachitic rosary, Metaphyseal cupping, Micromelia, Short lower limbs OMIM:241500
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Abnormal hemidiaphragm morphology, Abnormal tracheal morphology, Dextrocardi... ORPHA:2257
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Oculocerebrocutaneous Syndrome
Missing ribs, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Congenit... ORPHA:1647
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Narrow chest, Encephalocele, Brachydactyly,... OMIM:108720
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Short thorax, Abnormality of epiphysis morphology, Short ribs, Short me... ORPHA:50945
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Bifid uvula, Anal stenosis, Patent ductus arteriosus, Atrial septal d... OMIM:145410
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary ar... OMIM:611812
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Talipes... ORPHA:65759
Spondylospinal Thoracic Dysostosis
Short thorax, Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Fryns Syndrome
Short thumb, Ventricular septal defect, Cleft palate, Single transverse palmar crease, Intestinal... OMIM:229850
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Clinodactyly, Distal arthrogryposis, Overlapping fingers, Tapered finger, Respirator... OMIM:618975
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... OMIM:601186
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger, Clinodactyly of the 5th finger, Abnorma... ORPHA:2635
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Hernia, Dextrocardia, Double outlet right ventric... ORPHA:185
Fanconi Anemia, Complementation Group L
Absent thumb, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Cleft palate OMIM:614083
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Clinodactyly, Toe syndactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triph... OMIM:154400
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Craniofrontonasal Syndrome
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Toe syndactyly, Clinodactyly of the 5t... OMIM:304110
Donnai-Barrow Syndrome
Short sternum, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Diaphragmati... OMIM:222448
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Fetal Akinesia Deformation Sequence
Absent palmar crease, Multiple joint contractures, Intestinal hypoplasia, Generalized amyotrophy,... ORPHA:994
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Cleft palate, Congenital diaphragmatic hernia OMIM:612530
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Pagod Syndrome
Encephalocele, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal rib morphology, Abno... ORPHA:991
Pyknoachondrogenesis
Horizontal ribs, Hypoplastic ischia, Short thorax, Aplastic pubic bones, Short ribs, Micromelia, ... ORPHA:3003
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Ventricular septal defect, Cervical ribs, Patent foramen ovale, Patent ductus ar... OMIM:600001
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Short metacarpal, Sandal gap, Cone-shaped epiphyses of the phalanges... OMIM:617102
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Short ribs, Epiphyseal stippling, Congenital hip dislocation, Hypoplastic s... OMIM:308050
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Congenital diaphragmatic hernia, Pectus excavatum, Coronary-pu... OMIM:619699
Meacham Syndrome
Tetralogy of Fallot, Stillbirth, Patent ductus arteriosus, Atrial septal defect, Aplasia of the r... OMIM:608978
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Morphological abnormality of the gastrointestinal tract, Symphalangism affecting the... ORPHA:2990
13Q12.3 Microdeletion Syndrome
Upper eyelid edema, Congenital diaphragmatic hernia, Recurrent respiratory infections, Hemihypotr... ORPHA:412035
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Rib fusion OMIM:609813
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Abnormality of the diaphragm, Adducted thumb, Polyhydramnios, Myopathy, Uln... OMIM:616503
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Clinodactyly of the 5th finger, Long palm, Abnormal rib morphology, Arachnodactyly ORPHA:2759
Prune Belly Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal def... ORPHA:2970
Meier-Gorlin Syndrome 3
Absent sternal ossification, Genu varum, Short thorax, Patellar hypoplasia, Short ribs, Micrognat... OMIM:613803
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum OMIM:618624
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Talipes equinovarus, Cleft palate, ... ORPHA:250999
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Abnormal rib morphology, Pectus excavatum OMIM:602196
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology, Ventricular septal defect, Atrioventricular canal defect, Tracheal steno... ORPHA:818
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Braddock Syndrome
Preaxial hand polydactyly, Missing ribs, Micrognathia, Pectus excavatum ORPHA:52047
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Caudal Regression Syndrome
Missing ribs, Abnormality of pelvic girdle bone morphology, Anal atresia, Talipes equinovarus, Ab... ORPHA:3027
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Patellar aplasia, Fibular dup... OMIM:135750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Diastasis recti, Hernia of the abdo... ORPHA:96334
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Oligomeganephronia
Branchial cyst, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Secundum atrial sept... ORPHA:2260
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Clinodactyly of the 5th finger, High, narrow palate, Macroglossia, Abnormal rib m... ORPHA:373
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, 11 pairs of ribs, Sandal gap, Clinodactyly of the 5th finger, Pectus excava... OMIM:617877
Fanconi Anemia, Complementation Group D2
Absent thumb, Patent ductus arteriosus, Absent radius, Partial duplication of thumb phalanx, Trac... OMIM:227646
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Short sternum, Short ribs, Thin ribs, Short metacarpal, Hypoplasia of the radius, Mic... OMIM:266910
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, High palate, Patent ductus arteriosus, Atrial septal defect, Rocker ... ORPHA:363528
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Congenital diaphragmatic hernia, Recurrent res... OMIM:616777
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Tracheal atresia, Neonatal death, Abnormal car... OMIM:601612
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Diaphyseal thickening, Abnormal rib morphology ORPHA:2790
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Charge Syndrome
Dysplastic tricuspid valve, Short thumb, Double outlet right ventricle, Abnormal rib morphology, ... OMIM:214800
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Split hand, Abnormal rib morph... ORPHA:2145
Neu-Laxova Syndrome 1
Clinodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Micromelia, Spina bifida, V... OMIM:256520
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Patent ductus arteriosus, Clinodactyly of the 5th finger, Laryngotracheomal... OMIM:618454
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal fistula, Jejunal atresia, Duoden... OMIM:601346
Sprengel Deformity
Spina bifida occulta, Shoulder muscle hypoplasia, Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Abnormal ilium morphology, Anal stenosis, Patent ductus arteriosus, Atrial septal de... OMIM:614080
Genitopalatocardiac Syndrome
Brachydactyly, Congenital diaphragmatic hernia, Postaxial hand polydactyly, Cleft palate, Abnorma... ORPHA:2075
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Absent thumb, Hypoplastic scapulae, Congenital diaphragmatic herni... OMIM:618022
Cornelia De Lange Syndrome 1
Clinodactyly of the 5th finger, High, narrow palate, Inguinal hernia, Micromelia, Ventricular sep... OMIM:122470
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, High palate, Abnormality of pelvic girdle bone morphology, Slender long bon... OMIM:208150
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Thanatophoric Dysplasia Type 2
Brachydactyly, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Short thorax, Atrial se... ORPHA:93274
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, High palate, Bowing of the legs, Clubbing, 2-3 toe syndac... OMIM:617063
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Dislocated radial head, Clinodactyly of the 5th finger, Hypoplas... OMIM:617604
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Diasta... OMIM:312870
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Postaxial hand polydactyly, Short long bone, Narrow c... OMIM:617088
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Halperin-Birk Syndrome
High palate, Flexion contracture, Gastroesophageal reflux, Congenital diaphragmatic hernia, Ingui... OMIM:618651
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints OMIM:618356
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Syndactyly, Short thumb, Micrognathia, Arachnoda... OMIM:600325
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Agnathia-Otocephaly Complex
Aglossia, Tracheomalacia, Situs inversus totalis, Microglossia, Polyhydramnios, Secundum atrial s... OMIM:202650
Lissencephaly Type Iii And Bone Dysplasia
Polyhydramnios, Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601160
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Multiple joint contractures, Hydranencephaly, Abnormal pleura mo... ORPHA:2570
Lowry-Maclean Syndrome
Single transverse palmar crease, High, narrow palate, Congenital diaphragmatic hernia, Inguinal h... ORPHA:2409
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Short distal phalanx of finger, Polyhydramnios, Arthrogry... ORPHA:86822
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydram... ORPHA:2204
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Pectus excavat... OMIM:211910
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal right hemidiaphragm morphology, Hallux valgus, Metaphyseal widening, Hi... ORPHA:536471
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Arachnodactyly, Recurrent respiratory infections, Pectus carinat... ORPHA:1548
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Hypoplasia of the radius, Short thumb, Abnormal rib morphology, Radiou... ORPHA:2319
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Sprengel anomaly, Spi... ORPHA:2475
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Cervical ribs, Patent foramen ovale, Patent ductus arteriosus, Double outlet... ORPHA:2255
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Polyhydramnios, Acromelia of t... ORPHA:1027
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Single transverse palmar crease, Bro... OMIM:218330
Penile Agenesis
Bilateral talipes equinovarus, Rectal fistula, Atrial septal defect, Tracheoesophageal fistula, B... ORPHA:49
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Cleft palate ORPHA:95706
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia OMIM:618774
Distal Tetrasomy 15Q
High palate, Flexion contracture, Patent ductus arteriosus, Hernia, Atrial septal defect, Arachno... ORPHA:314588
Iniencephaly
Myelomeningocele, Rocker bottom foot, Rhizomelia, Anencephaly, Anal atresia, Congenital diaphragm... ORPHA:63259
Tetrasomy 5P
High palate, Clinodactyly of the 5th finger, Short hallux, Pericallosal lipoma, Pectus excavatum,... ORPHA:3309
Chronic Granulomatous Disease
Malabsorption, Recurrent respiratory infections, Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Micrognathia, Preaxial ... OMIM:277170
Tarp Syndrome
Tongue nodules, Clinodactyly, Tetralogy of Fallot, Hypoplasia of proximal radius, Single transver... ORPHA:2886
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Abnormal clavicle morp... ORPHA:93267
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Intestinal malrotation, Tracheoesophageal fistula, Anal atresia, Oligohydramnios, Aplasia/Hypopla... ORPHA:2973
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Pul... OMIM:612284
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Hypoplasia of deltoid muscle, Short 1st me... OMIM:147750
Genitopatellar Syndrome
Hypoplastic ischia, Short palm, Atrial septal defect, Gastroesophageal reflux, Knee flexion contr... ORPHA:85201
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Pe... OMIM:258860
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal myocardium morphology, Gastrointestinal hemorrhage, Tracheoesoph... ORPHA:537
Wolf-Hirschhorn Syndrome
Hypoplastic pubic rami, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Hernia,... ORPHA:280
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Congenital hip dislocation, Aganglionic megacolon, Anal atresia, Pedal edem... OMIM:236700
Distal Monosomy 15Q
2-3 toe cutaneous syndactyly, Single transverse palmar crease, Patent ductus arteriosus, Finger c... ORPHA:1596
Diamond-Blackfan Anemia 10
Supernumerary ribs, Patent ductus arteriosus, Congenital diaphragmatic hernia, Ventricular septal... OMIM:613309
Seckel Syndrome 5
11 pairs of ribs, Clinodactyly of the 5th finger, Micrognathia OMIM:613823
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Abnormality of epiph... ORPHA:628
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Abnormal rib morphology, Spina bifida, Sprengel anomaly, Ventricular ... ORPHA:2345
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Congenital diaphragmatic hernia ORPHA:370079
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Metatarsus valgus, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of toe... ORPHA:3082
Meckel Syndrome, Type 1
Bowing of the long bones, Clinodactyly, Foot polydactyly, Postaxial foot polydactyly, Patent duct... OMIM:249000
Summitt Syndrome
Syndactyly OMIM:272350
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
Matthew-Wood Syndrome
Abnormal lung morphology, Duodenal stenosis, Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2470
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Aymé-Gripp Syndrome
Supernumerary ribs, Patent ductus arteriosus, Rocker bottom foot, Clinodactyly of the 5th finger,... ORPHA:1272
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Malabsorption, Prominent floating ribs, Edema, Stillbirth OMIM:152800
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Hallux valgus, Metaphyseal widening, Dentinogenesis imperfecta, Oligohydramnios, ... ORPHA:536467
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Extrapulmonary sequestrum, Omphalocele, Micromelia, Postaxial hand polydactyly... OMIM:200995
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Aplasia/Hypoplasia of the thumb, ... ORPHA:2378
Absence Of The Pulmonary Artery
Recurrent pneumonia, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial ... ORPHA:980
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Dysphagia, Arthrogryposis multiplex co... OMIM:608013
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Camptodactyly, Split hand, Syndactyly, Joint contracture of the hand OMIM:225280
Alg9-Cdg
Bifid uvula, Ventricular septal defect, Villous atrophy, Abnormal lung lobation, Narrow greater s... ORPHA:79328
Seckel Syndrome 1
Hypoplasia of proximal radius, Single transverse palmar crease, Elbow flexion contracture, Cone-s... OMIM:210600
Ritscher-Schinzel Syndrome 1
Missing ribs, Micrognathia, Syndactyly OMIM:220210
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
White-Sutton Syndrome
Brachydactyly, High palate, Bifid uvula, Patent foramen ovale, Patent ductus arteriosus, Facial h... OMIM:616364
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Pseudoaminopterin Syndrome
Brachydactyly, High palate, Posterolateral diaphragmatic hernia, Slender finger, Single transvers... ORPHA:221120
Focal Dermal Hypoplasia
Foot polydactyly, Diastasis recti, Inguinal hernia, Midclavicular aplasia, Cleft palate, Brachyda... OMIM:305600
Acrofacial Dysostosis, RodrĂ­guez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Mesomelic arm shortening, Abnormal han... OMIM:300244
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Short ribs, Thin ribs, Anal atresia, Inguinal hernia, Oligohydramnios, Rib fusion, ... OMIM:271520
Cranioectodermal Dysplasia 2
Brachydactyly, Horizontal ribs, Clinodactyly, Short ribs, Rhizomelia, Micrognathia, Pectus excava... OMIM:613610
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema, Camptodactyly, Pericardial l... OMIM:616006
Robinow Syndrome, Autosomal Recessive 1
Brachydactyly, Clinodactyly, Broad toe, Missing ribs, Hypoplastic sacrum, Short palm, Duplication... OMIM:268310
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Cleft palate, Esophageal atresia ORPHA:3157
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Hip dysplasia, Preaxial foot polydactyly, Abnormali... ORPHA:1988
Charge Syndrome
Brachydactyly, Tetralogy of Fallot, Patent ductus arteriosus, Clinodactyly of the 5th finger, Gas... ORPHA:138
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Esophageal varix, Neonatal death, Oligohydramnios, Pulmonary hypoplasia OMIM:263200
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Williams Syndrome
Clinodactyly of the 5th finger, Colonic diverticula, Macroglossia, Rectal prolapse, Inguinal hern... ORPHA:904
Treacher-Collins Syndrome
High palate, Rectovaginal fistula, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal ... ORPHA:861
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Polyhydramnios, Ventricular septal defect, Umbi... OMIM:618846
Cdags Syndrome
Short ribs, Short clavicles OMIM:603116
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, 11 pairs of ribs, Micrognathia, Abnormal rib cage morphology, Hal... OMIM:271640
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosu... ORPHA:1860
46,Xx Sex Reversal 5
Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventricular septal defect, Secundum at... OMIM:618901
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Short tibia, Short toe, Abnormal morphology of ulna, Arthralgia... ORPHA:93323
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Finger syndactyly, Split hand ORPHA:2440
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Omphalocele, Large placenta, Polyhydramnios, Abnormal ... ORPHA:254534
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Single transverse palmar crease, Patent ductus arteriosus, Rocker bottom foot, Epiph... OMIM:214100
Holoprosencephaly
Abnormal pulmonary valve morphology, Brachydactyly, Tetralogy of Fallot, Aplasia/Hypoplasia of th... ORPHA:2162
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestinal malrotation, Dysp... OMIM:618280
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Sandal gap, Polyhydramnios, Ascites, Oligohydramnios ORPHA:1046
Raine Syndrome
Brachydactyly, High palate, Bowing of the long bones, Enamel hypoplasia, Neonatal death, Pectus e... OMIM:259775
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the ulna, Aplasia/Hypoplasia of the lungs, Hand ... ORPHA:2167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Thoracic kyphosis, Broad phalanx, Short palm, Duplication of phalanx of hand,... ORPHA:508498
Fetal Alcohol Syndrome
Atrial septal defect, Cleft palate, Congenital diaphragmatic hernia ORPHA:1915
Restrictive Dermopathy 1
Short umbilical cord, Congenital pseudoarthrosis of the clavicle, Flexion contracture, Patent duc... OMIM:275210
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bilateral talipes equinovarus, Rectovaginal fistula, Interstitial emphysema, Overlapping fingers,... OMIM:619708
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Pectus excavatum, S... ORPHA:1515
Mend Syndrome
2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Microretrognathia, Overlappin... OMIM:300960
Nephronophthisis 2
Situs inversus totalis, Oligohydramnios, Pulmonary hypoplasia OMIM:602088
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Fibular hypoplasia, 11 pairs of ribs, Micrognathi... OMIM:114290
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... ORPHA:140
Neu-Laxova Syndrome
Bifid uvula, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy, Submucous cleft ha... ORPHA:2671
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Abnormal rib morphology, Inguinal hern... ORPHA:666
Meckel Syndrome, Type 8
Talipes equinovarus, Postaxial hand polydactyly, Encephalocele, Polydactyly OMIM:613885
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Distal ileal atres... OMIM:267000
Schinzel-Giedion Midface Retraction Syndrome
Single transverse palmar crease, Short sternum, Thickened cortex of long bones, Wide distal femor... OMIM:269150
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, Contractures of the large joints, Preaxial hand polydactyly, Resp... ORPHA:96179
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Recurrent aspiration pneumonia, Cleft palate, Syndactyly OMIM:300484
Ulbright-Hodes Syndrome