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
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyly, Lateral clav... OMIM:617405
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Acropectoral Syndrome
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal cardiac septum morphology, Abnormal thorax morphology, Upper limb phocomeli... ORPHA:294975
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Pectus excavatum, Preaxial polydactyly... OMIM:605967
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Lateral cla... ORPHA:1801
Thoracomelic Dysplasia
Bell-shaped thorax, Genu valgum, Short ribs, Abnormal pelvic girdle bone morphology, Elbow disloc... ORPHA:1803
Metatropic Dysplasia
Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Genu valgum, Metaphyseal irregulari... OMIM:156530
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Short greater sciatic notch, Wide-cupped ... OMIM:187601
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Spina bifida, 2-3 finger syndactyly, Clubbing of toes, Pulmonary h... ORPHA:2437
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular chondrocostal junctions, S... OMIM:187760
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... OMIM:614524
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... ORPHA:1120
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, Coxa vara, Hypoplastic... OMIM:613330
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pseudoarthrosis, Short ribs OMIM:618155
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Postaxia... ORPHA:380
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Abnor... ORPHA:958
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Thoracic hypoplasia, Nonimmune hydrops f... OMIM:613124
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Intestinal malrotation, Syn... OMIM:601163
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Abnormal stern... ORPHA:2847
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Polyhydramnios, Esophageal atresia, Hand polydactyly, Pulmonary hy... OMIM:314390
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... OMIM:102510
Vacterl/Vater Association
Anorectal anomaly, Polyhydramnios, Preaxial hand polydactyly, Omphalocele, Finger syndactyly, Abn... ORPHA:887
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Advanced tarsal ossification, Fl... OMIM:215045
Schneckenbecken Dysplasia
Snail-like ilia, Metaphyseal irregularity, Dumbbell-shaped long bone, Thoracic hypoplasia, Anteri... OMIM:269250
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Bra... OMIM:617895
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Radioulnar synostosis, Clinodactyly of the 5th finge... ORPHA:3268
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia... ORPHA:63862
Syndactyly Type 4
Short tibia, Camptodactyly of finger, Triphalangeal thumb, Toe syndactyly, Foot polydactyly, Hand... ORPHA:93405
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Genu valgum, Metaphyseal irregularity, Genu varum, Short foot, Coxa vara, ... OMIM:250420
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short ribs, Short long bone, Thoracic dysplasia, Femoral bowing, Syndactyly, Lateral clavicle hoo... OMIM:615503
17Q12 Microduplication Syndrome
Polyhydramnios, Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoesophageal fistul... ORPHA:261272
Diaphanospondylodysostosis
Enlarged thorax, Short thorax, Myelomeningocele, Missing ribs, Narrow pelvis bone ORPHA:66637
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Hip dislocation, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly,... ORPHA:171719
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Fetal Encasement Syndrome
Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic... OMIM:613630
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyl... OMIM:618961
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Hip dislocation, Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology, Arachnoda... OMIM:614100
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal lung lobation, Abnormal metacar... ORPHA:2631
Brachydactyly, Type A2
2-3 toe syndactyly, Hallux valgus, Short middle phalanx of the 5th finger, Aplasia/Hypoplasia of ... OMIM:112600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Hallux varus, Triangular shaped phalanges of the... OMIM:618167
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Micrognathia, Radial bowing, Missing ribs, U... OMIM:617866
Pallister-Hall-Like Syndrome
Short ribs, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial foot polydactyly, Micromelia... OMIM:241800
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short ribs, Short long bone, Thoracic dyspl... OMIM:615630
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Achondrogenesis, Type Ib
Hypoplastic ilia, Short ribs, Micromelia, Narrow chest, Umbilical hernia OMIM:600972
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death, Palmoplantar blistering OMIM:226735
8p23.1 deletion syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial... DECIPHER:39
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Rhizomelia, Abnormality of femur morphology, Short ribs, Abnormality of the e... ORPHA:1842
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Tracheal stenosis, Tracheoesophageal fistula, Abnormal rib mo... ORPHA:93941
Severe Congenital Nemaline Myopathy
Polyhydramnios, Flexion contracture, Edema of the dorsum of hands, Facial palsy, Abnormal thorax ... ORPHA:171430
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Esophageal atresia,... ORPHA:2538
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Femoral retroversion, Pulmonary h... OMIM:616531
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Ventricular septa... OMIM:615524
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, Hip contractur... OMIM:617468
Congenital Diaphragmatic Hernia
Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intestinal malrotat... ORPHA:2140
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Thoracic hypoplasia, Rhizomelia, Metaphyseal... OMIM:151210
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera... OMIM:609052
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Narrow greater sciatic notch, Shor... OMIM:228520
Craniofrontonasal Dysplasia
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... ORPHA:1520
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Pulmonary hypoplasia... OMIM:616546
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, ... OMIM:224400
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Achondrogenesis, Type Ia
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Hypoplasia of ... OMIM:200600
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Missing ribs, Anteriorly placed anus, Congeni... ORPHA:1488
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Short long bone, Delayed proximal femoral epiphyseal ossification, ... ORPHA:93296
Platyspondylic Dysplasia, Torrance Type
Genu varum, Polyhydramnios, Metaphyseal cupping, Hydrops fetalis, Abnormal carpal morphology, Sho... ORPHA:85166
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Arthrogryposis multiple... OMIM:236500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Flexion contracture, Increased va... OMIM:616867
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short ribs, Short long bone, Thoracic dysplasia, Flat acetabular roof, Brachydactyly... OMIM:614091
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, S... OMIM:613091
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Flexion contracture, Short long bone, Abnormal lung lobation, Pulmonary hypoplasi... OMIM:263210
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bell-shaped thorax, Metaphyseal irregularity, Genu varum, Fibular overgrowth, Vertebral hypoplasi... OMIM:602557
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Toe syndactyly, Abnormal pelvic girdle b... ORPHA:474
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Hydrops fetalis, High palate, Narrow palate, Vent... OMIM:617022
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Short greater sciati... OMIM:187600
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Increased variability in muscle fiber diameter, Hydrops fetalis, High palate, Cen... OMIM:255320
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Renal Tubular Dysgenesis
Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios, Bilateral single transverse palmar creases... ORPHA:3033
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, High palate, Mitral valve prolapse, Tracheoesophage... ORPHA:115
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Skel... ORPHA:3068
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia OMIM:619083
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, T... ORPHA:2839
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Patent ductus... ORPHA:99811
Acces Syndrome
Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Split ... OMIM:619959
Infantile Myofibromatosis
Abnormal thorax morphology, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal ... ORPHA:2591
Pentalogy Of Cantrell
Abnormal pericardium morphology, Abnormal sternum morphology, Encephalocele, Ventricular septal d... ORPHA:1335
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Brachydactyly,... ORPHA:2021
Ellis-Van Creveld Syndrome
Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l... OMIM:225500
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Hypoplasia of the musculature, Pulmonary hypoplasia, Edema, Skeletal ... OMIM:253310
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Hand oligodactyly, Syndactyly... OMIM:183600
Mosaic Trisomy 1
Camptodactyly of finger, Polyhydramnios, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion con... ORPHA:1692
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Rib segmentation abnormali... ORPHA:2311
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Cardiomegaly, Fractured radius, Ventricular septal defect, Hydrops fetalis, Thora... OMIM:616897
Trisomy 1Q
Patent ductus arteriosus, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyly, Hyd... ORPHA:261344
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia, Oligohydramnios, Con... ORPHA:139466
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... OMIM:250220
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Hypertrophic cardiomyopathy... OMIM:614096
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Anterior rib cupping, Abnormality of the ischium, Short rib... ORPHA:2347
Three M Syndrome 1
Short thorax, Short 5th finger, Short ribs, Slender long bone, Hip dislocation, Clinodactyly of t... OMIM:273750
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Aplasia/Hypoplasia of the abdo... ORPHA:1263
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Bifid humerus, Flat acetabular roof, Pulmonary hypoplasia, Hitchhiker thumb,... OMIM:256050
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios ORPHA:3032
Mucolipidosis Iii Alpha/Beta
Short ribs, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling... OMIM:252600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Bell-shaped thorax, Iliac crest serration, Metaphyseal cupping, Short ribs, Short long bone, Hypo... OMIM:613320
Prieto Syndrome
11 pairs of ribs, Coxa valga, Clinodactyly, Radial deviation of finger, Talipes equinovarus OMIM:309610
15Q24 Microdeletion Syndrome
Myelomeningocele, Small hand, Hernia, Clinodactyly, Anal atresia, Abnormal thumb morphology, Abno... ORPHA:94065
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Frontal encephalocele ORPHA:261102
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Tracheoesophage... OMIM:619859
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, Double outlet right vent... OMIM:618316
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Pulmonary hypoplasia, Short palm, Patent for... OMIM:269860
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Flexion contracture, Short finger, Pulmonary hypoplasia, Amyoplasia, Edema, Cleft... OMIM:312150
Greenberg Dysplasia
Short phalanx of finger, Thoracic hypoplasia, Micrognathia, Tetraphocomelia, Epiphyseal stippling... OMIM:215140
Achondrogenesis, Type Ii
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... OMIM:200610
Acrocallosal Syndrome
Triphalangeal thumb, Congenital diaphragmatic hernia, Inguinal hernia, Abnormal clavicle morpholo... ORPHA:36
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the upper limb, Narrow palate, Aplasia/Hypoplasia of the lungs, Hip dysplasia, Abn... ORPHA:2063
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, High palate, Tapered finger, Small hand, Pectus excavatum, Congenital diaphra... ORPHA:284180
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Dysosteosclerosis
Short sternum, Short diaphyses, Broad femoral neck, Short ribs, Absent paranasal sinuses, Microgn... OMIM:224300
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, ... ORPHA:1166
Thanatophoric Dysplasia
Patent ductus arteriosus, Polyhydramnios, Short thorax, Hip dysplasia, Pulmonary hypoplasia, Atri... ORPHA:2655
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ... ORPHA:1836
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... ORPHA:2092
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Horizontal ribs, Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short... OMIM:208500
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... OMIM:600920
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Flexion contracture, Short finger, Pulmonary hypoplasia, Amyoplasia, Edema, Cleft... OMIM:253290
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Posterior rib fusion, Nonimmune hydrops fetalis, P... OMIM:265380
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Camptodactyly, Rocker bottom foot OMIM:618393
Odontochondrodysplasia 1
Short phalanx of finger, Genu varum, Dentinogenesis imperfecta, Metaphyseal cupping, Short metaca... OMIM:184260
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Pulmonary hypoplasia, Brachydactyly, Congenital diaphragmatic herni... OMIM:300978
Esophageal Atresia
Polyhydramnios, Pulmonary hypoplasia, Dysphagia, Cleft palate, Duodenal atresia, Bronchitis, Vent... ORPHA:1199
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Orofaciodigital Syndrome Xviii
Genu valgum, Cervical ribs, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Br... OMIM:617927
Congenital Tracheomalacia
Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Pneumonia, Ventricular septal defect, Esophag... ORPHA:95430
Methimazole Embryofetopathy
Tracheoesophageal fistula, Polyhydramnios, Ventricular septal defect, Esophageal atresia ORPHA:1923
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Metatarsal osteolysis, Met... OMIM:166300
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Oligohydramnios, Tracheoesophageal fistula, Abnormal intestine morphology, ... ORPHA:1848
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal joint contra... ORPHA:1145
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Polydactyly, Thoracic hypoplasia, Abnormal pelvis bone ossification... ORPHA:1505
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormality of the elbow, Slender long bone, Pulmonary hypoplasia, Skeletal muscl... ORPHA:1486
Kagami-Ogata Syndrome
Patent ductus arteriosus, Polyhydramnios, Bell-shaped thorax, Flexion contracture, Coxa valga, Ve... OMIM:608149
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micrognathi... ORPHA:1865
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Poland Syndrome
Spina bifida occulta, Abnormal rib morphology, Absent hand, Short ribs, Finger symphalangism, Abn... ORPHA:2911
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Missing ribs ORPHA:1759
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Rhombencephalosynapsis
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... ORPHA:59315
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... OMIM:616866
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Distal shortening of l... OMIM:300863
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Pectus excavatum, Spina bifida occulta, Tracheoe... OMIM:619227
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radiu... ORPHA:2879
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Finger syndactyly, Short ribs, Micrognathia, Aplasia of the distal phalanx ... OMIM:308050
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... OMIM:300514
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... ORPHA:63260
Alg3-Cdg
High palate, Abnormal uvula morphology, Abnormality of the gastrointestinal tract, Neural tube de... ORPHA:79321
Vacterl With Hydrocephalus
Polyhydramnios, Esophageal atresia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hip ... ORPHA:3412
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Sirenomelia
Spina bifida, Anal atresia, Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Multiple Pterygium Syndrome, Escobar Variant
Flexion contracture, Multiple joint contractures, Hip dislocation, Pulmonary hypoplasia, Camptoda... OMIM:265000
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fibrosis, Furrowed tongue, Recurrent resp... ORPHA:1839
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphag... ORPHA:142
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Horizontal ribs, Bifid tongue, Pulmonary hypoplasia, Cleft palate, Narrow greater sc... OMIM:616300
Mullegama-Klein-Martinez Syndrome
Polydactyly, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Hypoplastic left... OMIM:301022
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Radial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Intestinal malrotation,... ORPHA:3035
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... OMIM:617604
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Bell-shaped thorax, Rhizomelic leg shortening, Thoracic h... ORPHA:397715
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Lateral clavicle hook, Postaxial polys... OMIM:263520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Finger syndactyly, Toe syndactyly, Persistent cloaca, Abnormal metacarp... ORPHA:1112
Congenital Hypothyroidism
Abnormal pericardium morphology, Macroglossia, Tracheoesophageal fistula, Palpebral edema, Intest... ORPHA:442
Achondroplasia
Genu varum, Thoracic hypoplasia, Rhizomelia, Short femoral neck, Short ribs, Radial bowing, Ulnar... OMIM:100800
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, ... ORPHA:2143
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Short thorax, Femoral hernia, Aplasia/Hypoplasia of the lungs, N... ORPHA:93298
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Foot polydactyly, Tracheoesophageal fistula, Congenit... ORPHA:268249
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, High palate, Macroglossia, Short distal phalanx of the 5th finger, ... OMIM:614608
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Enlarged thorax, High palate, Tapered fi... ORPHA:251071
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Toe syndactyly, Foot polydactyly, Elbow flexion contracture, Hypoplas... OMIM:200980
Tracheal Agenesis
Tracheal atresia, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morpho... ORPHA:3346
Limb Body Wall Complex
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... ORPHA:2369
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Absent forearm, Micrognathia, Clinodactyly, O... OMIM:201170
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
Fryns Syndrome
Gastroesophageal reflux, Polyhydramnios, High palate, Ectopic anus, Abnormal cardiac septum morph... ORPHA:2059
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Short thorax, Short foot, Femoral hernia, Aplasia/Hypoplasia of ... ORPHA:93299
Emanuel Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Truncus arteriosus, Ventricular s... OMIM:609029
Weaver Syndrome
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... OMIM:277590
Cutis Laxa, Autosomal Recessive, Type Ia
Oligohydramnios, Emphysema, Pectus excavatum, Inguinal hernia, Congenital diaphragmatic hernia, A... OMIM:219100
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal cardiac septum morphology, Flared iliac wing, Pulmonary hypopla... ORPHA:90652
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micrognathia, Clinodactyly of ... OMIM:156400
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death, Pulmonary hypoplasia OMIM:615228
Nail-Patella Syndrome
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... OMIM:161200
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occulta, Abnormal rib morphology ORPHA:1797
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Trache... ORPHA:77298
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... ORPHA:1354
Meier-Gorlin Syndrome 1
Coxa valga, Micrognathia, Camptodactyly, Elbow dislocation, Absent sternal ossification, Lateral ... OMIM:224690
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Cong... OMIM:313850
Spondylocostal Dysostosis 5
Supernumerary ribs, Missing ribs, Posterior rib fusion, Pectus carinatum OMIM:122600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
2Q37 Microdeletion Syndrome
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Pyloric stenosis, Cl... ORPHA:1001
Emanuel Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Truncus arteriosus, Ectopic anus,... ORPHA:96170
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Short metacarpal, Abnormal metap... ORPHA:93351
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio... OMIM:119600
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Primary Pulmonary Hypoplasia
Pneumothorax, Patellar hypoplasia, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocar... ORPHA:2257
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Fanconi Anemia
Abnormal cardiac septum morphology, Toe syndactyly, Hip dislocation, Hypertrophic cardiomyopathy,... ORPHA:84
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, High palate, Encephalocele, Tapered finger, Pyloric stenosis, Anencepha... OMIM:619148
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Feingold Syndrome 1
Patent ductus arteriosus, 2-3 toe syndactyly, Short toe, Polyhydramnios, High palate, Jejunal atr... OMIM:164280
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... OMIM:607143
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Marden-Walker Syndrome
Abnormal sternum morphology, Decreased muscle mass, High palate, Joint contracture of the hand, P... OMIM:248700
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Femoral bowing, Oligohydramnios... OMIM:615415
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Ventricular septal defect, Small hand, Bic... OMIM:617450
Thakker-Donnai Syndrome
Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hern... ORPHA:1780
Opitz Gbbb Syndrome
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Ectopic a... ORPHA:2745
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia, Oligohydramnios OMIM:616733
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, 3-4 finger cutaneous syndactyly, Pulmonary hypoplasia, Pe... OMIM:612530
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Diaphanospondylodysostosis
Bell-shaped thorax, Thoracic hypoplasia, Narrow pelvis bone, Missing ribs, Pulmonary hypoplasia, ... OMIM:608022
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Elbow flexion contracture, Hip dislocation... OMIM:245600
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Patent foramen ovale, Atelectasis, Morgagni diaphragmatic hernia, Pylori... OMIM:613177
Vater/Vacterl Association
Patent ductus arteriosus, Triphalangeal thumb, Abnormal sternum morphology, Ventricular septal de... OMIM:192350
Trisomy 18
Camptodactyly of finger, Deviation of finger, Abnormality of the upper limb, Omphalocele, Narrow ... ORPHA:3380
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Abnormality of the gastr... ORPHA:1708
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Toe syndactyly, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Atelosteogenesis Type I
Polyhydramnios, Thoracic hypoplasia, Short long bone, Laryngotracheal stenosis, Pulmonary hypopla... ORPHA:1190
Blomstrand Lethal Chondrodysplasia
Short thorax, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Broad clavicles, Micro... ORPHA:50945
Holt-Oram Syndrome
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... ORPHA:392
Basal Cell Nevus Syndrome 1
Bifid ribs, Palmar pits, Abnormal sternum morphology, Polydactyly, Short 4th metacarpal, Short ri... OMIM:109400
Hypophosphatasia, Infantile
Metaphyseal cupping, Short ribs, Short lower limbs, Bowing of the legs, Rachitic rosary, Micromelia OMIM:241500
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... ORPHA:65759
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Polydactyly, Brachydactyly, Short long bone OMIM:613819
Townes-Brocks Syndrome 1
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ve... OMIM:107480
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Pyloric stenosis, Abnormal aortic valve morphology, Hand polydactyly, At... ORPHA:261197
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Oligohydramnios, Congen... OMIM:611812
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Abnormal hem... ORPHA:185
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Ventricular septal defect, Repeated pneumothoraces, Camptodactyly, Anal atresia, Atr... OMIM:617602
Fryns Syndrome
Polyhydramnios, Thoracic hypoplasia, Camptodactyly, Pulmonary hypoplasia, Cleft palate, Aplasia o... OMIM:229850
Oculocerebrocutaneous Syndrome
Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Congenital diaphra... ORPHA:1647
Spondylospinal Thoracic Dysostosis
Short thorax, Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Congenital Myopathy 17
Hand clenching, Respiratory tract infection, Polyhydramnios, Tapered finger, High palate, Distal ... OMIM:618975
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Horizontal ribs, Neonatal death, Hypoplastic pubic bone, Short long bone, Short ribs... OMIM:617925
Hyperparathyroidism, Transient Neonatal
Short ribs, Short long bone, Short femur, Femoral bowing, Fractured rib, Narrow chest, Metaphysea... OMIM:618188
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, High palate, Toe syndactyly, Congenital diaphragm... OMIM:619648
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Missing ribs, Pulmonary hypoplasia, Oligodact... OMIM:251230
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Generalized amyotrophy, Abs... ORPHA:994
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Rib fusion, Slender finger, Contracture of the proximal inter... OMIM:609813
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypop... OMIM:618280
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Cardiac total anomalous pulmonary venous connection, Ve... OMIM:608978
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... OMIM:609616
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Morphological abnormality of the gastrointestinal tract, Symphalangism a... ORPHA:2990
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, High palate, Pectus excavatum, Congenital diaphragmatic hernia, Coronary-pu... OMIM:619699
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Postaxial foot polydactyly, Oligohydramnios, Syndactyly, Post... OMIM:619879
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum OMIM:618624
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, M... OMIM:620073
Pyknoachondrogenesis
Horizontal ribs, Enlarged thorax, Short thorax, Short ribs, Short long bone, Aplastic pubic bones... ORPHA:3003
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Agenesis of pulmonary vessels, Truncus arteriosus, Bilateral lung agene... OMIM:601186
Prune Belly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Volvulus, Aplasia/Hypoplasia of the lungs, A... ORPHA:2970
Achondrogenesis
Polyhydramnios, Short thorax, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Inguinal hernia, ... ORPHA:932
Donnai-Barrow Syndrome
Short sternum, Ventricular septal defect, Diaphragmatic eventration, Intestinal malrotation, Cong... OMIM:222448
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Flexion contracture, High palate, Bifid uvula, Pectus excavatum, Inguina... OMIM:208050
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rock... OMIM:606851
Fatco Syndrome
Finger syndactyly, Abnormality of tibia morphology, Split hand, Abnormality of fibula morphology,... ORPHA:2492
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Abnormality of the pulmonary artery, Pulmonary hypoplas... ORPHA:991
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Absent thumb, Elbow flexion contracture, Congenital diaphragmatic hernia, Hypoplastic pelvis, Sho... OMIM:618022
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... OMIM:142900
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten... OMIM:600001
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Long palm ORPHA:2759
Agnathia-Otocephaly Complex
Polyhydramnios, Secundum atrial septal defect, Tracheomalacia, Pulmonary hypoplasia, Microglossia... OMIM:202650
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Congenital finger flexion contractures, Polyhy... ORPHA:363528
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, 2-3 toe syndactyly, Polyhydramnios, Aortopulmonary window, Ventricular septal d... OMIM:620025
Lethal Congenital Contracture Syndrome 9
Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand, Short umbilical cord, Pulm... OMIM:616503
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Meier-Gorlin Syndrome 3
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Coxa vara, Short ribs, Micrognat... OMIM:613803
Craniofrontonasal Syndrome
Toe syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Congenital pseudoarthrosi... OMIM:304110
Metatropic Dysplasia
Camptodactyly of finger, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the lungs, Narrow ... ORPHA:2635
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Ventricular septal defect, Esophageal atresia, Bifid uvula, Clinodactyly... OMIM:301030
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Thoracic hypoplasia, Ulnar de... OMIM:208150
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hallux valgus, Toe syndactyly, Hip dislocation, Overlapping toe, Broad hallux, Radi... OMIM:154400
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft palate,... ORPHA:250999
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, High palate, Glossitis, Atrial septal defect, Tracheoesophageal fistula... OMIM:277380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Spinal dysraphism, Thoracic hypoplasia, Coxa valga, Micrognathia, Epiphyseal stippli... ORPHA:96334
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Pectus excavatum, Broad hallux, Short hallux, Postaxial hand polyda... OMIM:304120
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Camptobrachydactyly
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... ORPHA:1319
Braddock Syndrome
Micrognathia, Preaxial hand polydactyly, Missing ribs, Pectus excavatum ORPHA:52047
Meacham Syndrome
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... ORPHA:3097
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, 2-3 toe syndactyly, Polyhydramnios, Bifid tongue, Hip dislocation,... ORPHA:818
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Short long bone, Pulmonary hypoplasia, Occipital encephalocele, Neonatal dea... OMIM:224410
Caudal Regression Syndrome
Decreased muscle mass, Arrhinencephaly, Missing ribs, Anal atresia, Pulmonary hypoplasia, Abnorma... ORPHA:3027
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... OMIM:601559
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Bilateral lung agenesis, Tracheal a... OMIM:601612
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... OMIM:227646
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short thorax, Short metacarpal, Angel-shaped phalanx, Flat acetabular ro... OMIM:617102
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal ... ORPHA:2725
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Polyhydramnios, Toe syndactyly, Hepatoblastoma, Pectus excavatum, Postax... ORPHA:373
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Triphalangeal thumb, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Gastroesophageal reflux, Polyhydramnios, High palate, Anal atresia, Pul... OMIM:614080
Seckel Syndrome 9
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Con... OMIM:616777
Martinez-Frias Syndrome
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Brachydactyly, Type B1
Hypoplastic sacrum, Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, ... OMIM:113000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Elbow flexion contracture, Talipes equinovarus, ... OMIM:616266
Oligomeganephronia
Secundum atrial septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonary v... ORPHA:2260
Charge Syndrome
Polyhydramnios, Secundum atrial septal defect, Dysphagia, Abnormal rib morphology, Cleft palate, ... OMIM:214800
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Camptodactyly, Congenital diaphragmatic hernia, Upper eyelid edema, Recurrent resp... ORPHA:412035
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Sprengel Deformity
Spina bifida occulta, Sprengel anomaly, Shoulder muscle hypoplasia, Rib segmentation abnormalities OMIM:184400
Halperin-Birk Syndrome
Gastroesophageal reflux, Flexion contracture, High palate, Perimembranous ventricular septal defe... OMIM:618651
Cornelia De Lange Syndrome 1
2-3 toe syndactyly, Elbow flexion contracture, Dislocated radial head, Phocomelia, Limited elbow ... OMIM:122470
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Brachydactyly, Postaxial han... ORPHA:2075
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... ORPHA:3329
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Hallux valgus, Multiple joint contractures, Elbow flexion contracture, Flat ... ORPHA:536471
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Hepat... OMIM:312870
Orofaciodigital Syndrome Vi
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Arrhinencephaly, Preax... OMIM:277170
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Micrognathia, Clinodactyly, Brachydactyly, Syndactyly, Arachnodact... OMIM:600325
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Polyhydramnios, Short thorax, Encephalocele, Aplasia/Hypoplasia of the ... ORPHA:93274
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Oligohydramnios, Split hand, Brachydactyly, A... ORPHA:2145
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Thoracic hypoplasia, Micrognathia, Postaxial hand polydactyly, Short toe... OMIM:266920
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormal pleura morphology, Enlarged thorax, Multiple joint contractures... ORPHA:2570
Distal Tetrasomy 15Q
Patent ductus arteriosus, Abnormal sternum morphology, Flexion contracture, High palate, Hernia, ... ORPHA:314588
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Short distal phalan... ORPHA:86822
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Bilateral single transverse palmar creases, Arachnodactyly, Recu... ORPHA:1548
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Clinodactyly of the 5th finger... ORPHA:3309
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, Prominent sternum, Clinodactyly of the 5th fin... OMIM:617877
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Multiple joint contractures, Pulmonary hypoplasia, Pectus excavatum, Talipes equin... ORPHA:536467
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Abnorm... ORPHA:2475
Lowry-Maclean Syndrome
Midgut malrotation, Atrioventricular canal defect, Pyloric stenosis, Inguinal hernia, Single tran... ORPHA:2409
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Hypoplasia of the radius, Toe syndactyly, A... ORPHA:2319
Tarp Syndrome
Short sternum, Postaxial polydactyly, Finger syndactyly, Tongue nodules, Abnormal duodenum morpho... ORPHA:2886
Autosomal Recessive Amelia
Polyhydramnios, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Acromelia of... ORPHA:1027
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Hernia, Ventricular septal defect, Hypoplastic tr... ORPHA:2255
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Postaxial polydactyly, Short ribs, Short long bone, Postaxial hand polydactyly, ... OMIM:617088
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Genu valgum, Bifid tongue, Double outlet right ventricl... ORPHA:1596
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Lymphedema, Clinodactyly, Pectus excavatum, Epiphyseal ... OMIM:607131
Penile Agenesis
Anorectal anomaly, Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Anal... ORPHA:49
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Micrognathia, Abnormal clavicle morphology, Proximal placement of thumb... ORPHA:93267
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele ORPHA:95706
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Pectus ex... OMIM:614294
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal pleura morphology, Malabsorption, Tracheoesophageal fistula, Gas... ORPHA:537
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Sprengel anomaly, Abnormal r... ORPHA:2345
Cranioectodermal Dysplasia 1
Short toe, Short thorax, Rhizomelia, Short ribs, Clinodactyly, Pectus excavatum, Broad distal pha... OMIM:218330
Cebalid Syndrome
Congenital diaphragmatic hernia, High palate OMIM:618774
Diastrophic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia, Hip dys... ORPHA:628
Camptobrachydactyly
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Oligohydramnios, Intestinal malrotation, Tracheoesophageal fistula, Aplasia/Hypopla... ORPHA:2973
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morpho... ORPHA:2204
Chronic Granulomatous Disease
Tracheoesophageal fistula, Pyloric stenosis, Malabsorption, Recurrent respiratory infections ORPHA:379
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of toe, Aplasia/Hypoplasia of... ORPHA:3082
Mckusick-Kaufman Syndrome
Pedal edema, Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Mesoaxial hand polydactyl... OMIM:236700
Meckel Syndrome, Type 6
Anencephaly, Pulmonary hypoplasia, Postaxial foot polydactyly, Bilobed right lung, Postaxial hand... OMIM:612284
Wolf-Hirschhorn Syndrome
Preaxial hand polydactyly, Hernia, Abnormal cardiac septum morphology, Hypoplastic pubic rami, Ap... ORPHA:280
Ivic Syndrome
Absent thumb, Short femur, Pectoralis major hypoplasia, Short 1st metacarpal, Carpal synostosis, ... OMIM:147750
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Genitopatellar Syndrome
Knee flexion contracture, Gastroesophageal reflux, Hip contracture, Hypoplastic ilia, Patellar ap... ORPHA:85201
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Narrow chest, Rhizomelia OMIM:617661
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Morgagni diaphragmatic hernia, Supernumerary... OMIM:613309
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Short thorax, Flexion contracture, Clinodactyly... ORPHA:88630
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Truncus arteriosus, Pulmonary edema,... ORPHA:980
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Duodenal stenosis, Abnormal lung morphology ORPHA:2470
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Cleft palate, Esophageal atresia ORPHA:3157
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Pericardial effusion, Narrow chest, Cleft palate, Occipital encephalo... OMIM:613885
Iniencephaly
Polyhydramnios, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, An... ORPHA:63259
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Thoracic hypoplasia, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Dysphagia, ... OMIM:608013
Aymé-Gripp Syndrome
Patent ductus arteriosus, Tapered finger, Pericardial effusion, Abnormal thorax morphology, Super... ORPHA:1272
Neu-Laxova Syndrome 1
Polyhydramnios, Toe syndactyly, Camptodactyly, Pulmonary hypoplasia, Radial deviation of finger, ... OMIM:256520
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly ORPHA:370079
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, Preaxial hand polydactyly, High palate, Ventricular septal defect, 2-4 finger... OMIM:617063
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Pseudoaminopterin Syndrome
Hip subluxation, Patent foramen ovale, High palate, Short 4th metacarpal, Limited elbow movement,... ORPHA:221120
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Short thorax, Myelomeningocele, Missing ribs, Pectus excavatum, Spina bifida ... OMIM:613686
Ritscher-Schinzel Syndrome 1
Syndactyly, Micrognathia, Missing ribs OMIM:220210
White-Sutton Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, High palate, Bifid uvula... OMIM:616364
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints OMIM:618356
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5t... OMIM:618454
Focal Dermal Hypoplasia
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... OMIM:305600
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short ribs, Missing ribs, Pulmonary hypoplasia, Anal atresia, Oligohydramnios, Inguinal hernia, R... OMIM:271520
Alg9-Cdg
Pericardial effusion, Abnormal left ventricular outflow tract morphology, Bifid uvula, Pulmonary ... ORPHA:79328
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly ORPHA:64754
Seckel Syndrome 1
11 pairs of ribs, Micrognathia, Elbow flexion contracture, Ivory epiphyses, Hip dislocation, Abno... OMIM:210600
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Micrognathia, Met... ORPHA:2756
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Pectus excavatum, Dislocated radial head, Radial deviation of finger, Short palm, M... OMIM:268310
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Charge Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Polyhydramnios, Abnormal cardiac septum morpho... ORPHA:138
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Oligohydramnios, Sandal gap, Ascites ORPHA:1046
Williams Syndrome
Peptic ulcer, Colonic diverticula, Hallux valgus, Abnormal cardiac septum morphology, Pectus exca... ORPHA:904
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Rocker bottom foot, Bell-shaped thorax, High palate, Ventricular septal... OMIM:214100
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Acrofacial Dysostosis, RodrĂ­guez Type
Finger syndactyly, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic gir... ORPHA:1788
Acrocephalopolydactylous Dysplasia
Omphalocele, Hypoplastic colon, Pulmonary hypoplasia, Postaxial hand polydactyly, Extrapulmonary ... OMIM:200995
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Polyhydramnios, Hypoplastic ilia, Aplasia/Hypoplasia of the lungs, Atri... ORPHA:1860
Treacher-Collins Syndrome
Patent ductus arteriosus, Encephalocele, High palate, Tracheoesophageal fistula, Cleft palate, Re... ORPHA:861
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios OMIM:602088
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Syndactyly, ... OMIM:616006
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septa... ORPHA:254534
Joubert Syndrome 18
Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Cleft palate, Occipi... OMIM:614815
Cdags Syndrome
Short clavicles, Short ribs OMIM:603116
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Limb undergrow... ORPHA:93323
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
Meckel Syndrome, Type 1
Camptodactyly of finger, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Radial deviati... OMIM:249000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi... OMIM:271640
Holoprosencephaly
Gastroesophageal reflux, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal ... ORPHA:2162
Fanconi Anemia, Complementation Group L
Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Anal atresia, Tracheoesophageal ... OMIM:614083
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Rhizomelia, Short ribs, Micrognathia, Clinodactyly, Pectus excavatu... OMIM:613610
Dyskeratosis Congenita
Anorectal anomaly, Malabsorption, Coarse metaphyseal trabecularization, Esophageal stenosis, Trac... ORPHA:1775
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the lungs, Abnormal metacar... ORPHA:2167
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Contractures of the large joints, Clinodactyly of the 5th finger, Pulm... ORPHA:96179
Cranioectodermal Dysplasia
Rhizomelia, Abnormal metaphysis morphology, Finger syndactyly, Clinodactyly of the 5th finger, Pe... ORPHA:1515
Teebi Hypertelorism Syndrome 1
Small hand, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Omphalocele, B... OMIM:145420
Fetal Alcohol Syndrome
Cleft palate, Congenital diaphragmatic hernia, Atrial septal defect ORPHA:1915
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Increased density of long bo... OMIM:269150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Micrognathia, Thor... ORPHA:508498
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Diets-Jongmans Syndrome
Polyhydramnios, Ventricular septal defect, Hip dysplasia, Inguinal hernia, Congenital diaphragmat... OMIM:618846
Ulbright-Hodes Syndrome
Short sternum, Short metacarpal, Short ribs, Hypoplasia of the radius, Micrognathia, Humeroradial... ORPHA:3404
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema, Inflammat... OMIM:619708
Seckel Syndrome 5
11 pairs of ribs, Micrognathia, Short middle phalanx of finger, Clinodactyly of the 5th finger OMIM:613823
Bardet-Biedl Syndrome 16
Polydactyly, Bronchiolitis, Recurrent respiratory infections OMIM:615993
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Micrognathia, Hip dislocation, Clinoda... ORPHA:3320
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Tibial bowing, Hip di... ORPHA:140
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... OMIM:615986
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Syndactyly, Cleft palate OMIM:300484
Restrictive Dermopathy 1
Patent ductus arteriosus, Overtubulated long bones, Polyhydramnios, Flexion contracture, Thin cla... OMIM:275210
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Neu-Laxova Syndrome
Polyhydramnios, Flexion contracture, Spina bifida, Muscular dystrophy, Bifid uvula, Submucous cle... ORPHA:2671
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Talipes equinovarus, Oligohydramnios OMIM:191830
Pelger-Huet Anomaly