Registered for phenotyping at IMPC

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

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
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Abnormal heart m... ORPHA:294975
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ... OMIM:173800
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular roof, Long cocc... OMIM:156530
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula... ORPHA:1801
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost... OMIM:187760
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Single transverse palmar crease, Aplasia of... ORPHA:2437
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Bilateral single transverse palmar creas... ORPHA:1120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H... OMIM:613330
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broa... ORPHA:380
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Hypoplasia of the radius, Hypoplasia of ... ORPHA:958
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Thanatophoric Dysplasia, Type Ii
Narrow chest, Flared metaphysis, Short greater sciatic notch, Wide-cupped costochondral junctions... OMIM:187601
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasi... OMIM:613124
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal gastrointestinal tract morphology,... ORPHA:2847
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Om... OMIM:601163
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Anal atresia, Omphalocele, Spina bif... ORPHA:63862
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Polyhydramnios, Anencephaly, Anorectal ... ORPHA:887
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial de... OMIM:102510
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Proximal placement of thumb, ... OMIM:314390
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Intestinal malrotation, Cleft palate, P... OMIM:615524
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Schneckenbecken Dysplasia
Lateral clavicle hook, Narrow chest, Snail-like ilia, Short long bone, Flat acetabular roof, Shor... OMIM:269250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
17Q12 Microduplication Syndrome
Polyhydramnios, Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atria... ORPHA:261272
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... OMIM:250420
Chondrodysplasia, Blomstrand Type
Narrow chest, Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossificati... OMIM:215045
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal me... ORPHA:2631
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion ... OMIM:617194
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... OMIM:615503
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Arachnodactyly, Flex... ORPHA:171719
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Tetralogy of Fallot, Lower ... OMIM:613630
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Missing ribs, Myelomeningocele, Narrow pelvis bone ORPHA:66637
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Abnormal heart morphology, Hip disloc... OMIM:614100
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal wide... OMIM:618961
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Micromelia, Micrognathia, Toe sy... OMIM:241800
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointes... ORPHA:1834
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Achondrogenesis, Type Ib
Narrow chest, Short ribs, Hypoplastic ilia, Micromelia, Umbilical hernia OMIM:600972
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death, Palmoplantar blistering OMIM:226735
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Thoracic hypo... ORPHA:56304
Bone Dysplasia, Lethal Holmgren Type
Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Narrow chest, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Th... OMIM:151210
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal rib morphology, Tracheoesophageal fistula, Intestina... ORPHA:93941
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Internally ro... OMIM:617468
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Edema of the dorsum of hands, Polyhydramnios, Thin ribs, Facial dip... ORPHA:171430
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum, Intestin... ORPHA:2140
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion co... OMIM:616531
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Clinodactyly of the 5th finger, Sa... ORPHA:1520
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Narrow chest, Encephalocele, Short long bone, Short ribs, Bowing of... OMIM:224400
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Metaphyseal cupping, S... ORPHA:85166
Achondrogenesis Type 2
Delayed pubic bone ossification, Narrow chest, Short long bone, Short ribs, Hypoplastic ilia, Mic... ORPHA:93296
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fi... OMIM:616867
Achondrogenesis, Type Ia
Hypoplasia of the radius, Hypoplastic sacrum, Bell-shaped thorax, Talipes equinovarus, Severe lim... OMIM:200600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... ORPHA:2538
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... ORPHA:1263
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Proximal placement of thumb, Abnor... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Flared metaphysis, Delayed epiphyseal ossificat... OMIM:602557
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Short lo... OMIM:613091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short... OMIM:614091
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sciatic notch, Polyhydram... OMIM:263210
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Thanatophoric Dysplasia, Type I
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187600
Lethal Congenital Contracture Syndrome 10
Narrow palate, Adducted thumb, Hydrops fetalis, Torticollis, Narrow chest, Femoral bowing, Ventri... OMIM:617022
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Polyhydramnios, Pulmonary hypoplasia, Tetralogy of Fa... ORPHA:3033
Atelosteogenesis, Type Ii
Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab... OMIM:256050
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Polyhydramn... OMIM:255320
Acces Syndrome
Clinodactyly of the 5th finger, Ectrodactyly, Tracheoesophageal fistula, Split foot, Hip dysplasi... OMIM:619959
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Congenital contracture, Intestinal malrotation, Camptodac... ORPHA:115
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Facial palsy, Tra... ORPHA:3068
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Skeletal muscle atrophy, Ede... OMIM:253310
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Infantile Myofibromatosis
Abnormal metaphysis morphology, Intestinal obstruction, Abnormal intestine morphology, Neoplasm o... ORPHA:2591
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Anencephaly, Encephalocele, Abnormal ... ORPHA:1335
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Fliedner-Zweier Syndrome
Meningocele, High palate, Pectus excavatum, Tracheoesophageal fistula, Anal atresia, Bicuspid aor... OMIM:620511
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Inguinal hernia, Meningocele, Spina bifida occulta, Finger synda... ORPHA:2311
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Flared metaphysis, Short ribs, Pleural effusion, Ascites, Hypert... OMIM:616897
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... OMIM:236500
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Long toe, Dev... ORPHA:1692
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiphyseal ossification, Metaphyseal ... OMIM:613320
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Mesomelia, Nonimmune hydrops fetalis, Thoracic hyp... OMIM:215140
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Frontal encephalocele, Patent ductus arteriosus ORPHA:261102
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Neonatal death, Pulm... OMIM:614096
Three M Syndrome 1
Clinodactyly of the 5th finger, Spina bifida occulta, Slender long bone, Short thorax, Short ribs... OMIM:273750
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Short thorax, Anal atresia, Omp... ORPHA:261344
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia, Malrotation of small bo... ORPHA:139466
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Short ribs, Ascites, Intestinal malrotation, Edema, Short finger, I... OMIM:269860
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencepha... OMIM:616546
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Recurrent respiratory infections, Long toe, Gastroesophageal reflux, Pate... OMIM:618316
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia ORPHA:3032
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Odontochondrodysplasia 1
Narrow chest, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the... OMIM:184260
Prieto Syndrome
Radial deviation of finger, 11 pairs of ribs, Coxa valga, Clinodactyly, Talipes equinovarus OMIM:309610
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Polyhydra... ORPHA:141127
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, 2-3 toe syndactyly, High palate, Pectus excavatum, Umbilical her... ORPHA:284180
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Polyhydramnios, Abnormal ilium morphology, Narrow chest, Short th... ORPHA:2655
Achondrogenesis, Type Ii
Short tubular bones of the hand, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Sh... OMIM:200610
Congenital Tracheomalacia
Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Bronch... ORPHA:95430
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Short finger, Polyhydramnios, Amyoplasia, Thin ribs, Cleft palate, Pulmonary h... OMIM:312150
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Clinodactyly of the 5th finger, Esophageal atresia, Missing ribs, Tracheoesophage... OMIM:619859
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Triphalangeal thumb, Inguinal hern... ORPHA:36
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Proximal placement of thumb, Myelomen... ORPHA:94065
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Cleft palate, Tetralogy of Fallot,... ORPHA:1166
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Encephalocele, Clubbing of fingers, Hypoplastic pubic bone, Narrow chest, Short ... ORPHA:1865
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Abnormal fibula morphology, Abnormal fem... ORPHA:2063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Hypoplasti... ORPHA:2092
Renal Agenesis, Bilateral
Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Pulmonary hy... ORPHA:1848
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Broad thumb, Velopharyngeal insufficiency, Abnormal heart morpho... OMIM:300978
Esophageal Atresia
Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Clin... ORPHA:1199
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Micrognathia, 11 pairs of ribs, Camptodactyly OMIM:618393
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Kagami-Ogata Syndrome
Long clavicles, Polyhydramnios, Bell-shaped thorax, Inguinal hernia, Thin ribs, Diastasis recti, ... OMIM:608149
Achondrogenesis Type 1B
Hydrops fetalis, Polyhydramnios, Talipes equinovarus, Narrow chest, Short thorax, Femoral hernia,... ORPHA:93298
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met... OMIM:600920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis... OMIM:265380
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Short finger, Polyhydramnios, Amyoplasia, Thin ribs, Cleft palate, Pulmonary h... OMIM:253290
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, High palate, Increased variability... OMIM:616866
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:619003
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Ulnar ... OMIM:166300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal joint contracture of finger, ... ORPHA:1145
Methimazole Embryofetopathy
Polyhydramnios, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Achondrogenesis Type 1A
Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Femoral hernia, Micromelia, Short pa... ORPHA:93299
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Pulmona... ORPHA:1486
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ... ORPHA:2879
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Poland Syndrome
Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec... ORPHA:2911
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs, Meningocele ORPHA:1759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Atrial... OMIM:300887
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... OMIM:308050
Tracheal Agenesis
Polyhydramnios, Tracheal atresia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morpho... ORPHA:3346
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Abnormal skeletal muscle morphology, Neoplasm of the lung, Tracheoesoph... ORPHA:142
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Rhombencephalosynapsis
Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Tracheoesophageal fist... ORPHA:59315
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Esophageal atresia, Spina bifida occulta, Pectus excavatum, T... OMIM:619227
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Esophageal atresia, Tracheoesophageal fistula, Bilateral radial aplasia, ... OMIM:300514
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Vacterl With Hydrocephalus
Hypoplasia of the radius, Polyhydramnios, Esophageal atresia, Inguinal hernia, Femoral hernia, Sp... ORPHA:3412
Alg3-Cdg
Abnormality of the gastrointestinal tract, Neural tube defect, Cardiomyopathy, High palate, Abnor... ORPHA:79321
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Long clavicles, Occipital encephalocele, Bell-shaped thorax, Early oss... ORPHA:397715
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin... OMIM:263520
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Tracheoesophageal ... ORPHA:210122
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, Recurrent resp... ORPHA:1839
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Omp... ORPHA:3035
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Mesomelic/rhiz... ORPHA:1354
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv... OMIM:616300
Sirenomelia
Sirenomelia, Tracheoesophageal fistula, Anal atresia, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:3169
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Ompha... ORPHA:63260
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Flared ... OMIM:277590
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Tracheomalacia, Tracheoesophageal fistula, Foot... ORPHA:268249
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Patellar hypoplasia, Abnormal trac... ORPHA:2257
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Flared, irregular rib ends, Coxa vara, Micromelia ORPHA:168555
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Ventricul... ORPHA:2143
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Atelosteogenesis Type I
Abnormal fibula morphology, Polyhydramnios, Rhizomelia, Laryngotracheal stenosis, Narrow chest, S... ORPHA:1190
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow palate,... OMIM:200980
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Inguinal hernia, Recurrent respiratory infections, ... OMIM:609029
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Inguinal hernia, High palate, Abnormal heart morphology, Cleft pala... OMIM:614608
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Achondrogenesis
Hydrops fetalis, Polyhydramnios, Inguinal hernia, Narrow chest, Short thorax, Micromelia, Umbilic... ORPHA:932
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Transposition of the great arteries, Preaxial ... OMIM:192350
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Clinodactyly of the ... ORPHA:1001
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Otopalatodigital Syndrome Type 2
Glossoptosis, Myelomeningocele, Flared iliac wing, Abnormal cardiac septum morphology, Fibular ap... ORPHA:90652
Metaphyseal Chondrodysplasia, Jansen Type
Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long bone, Short ... OMIM:156400
Nail-Patella Syndrome
Limited elbow extension, Thickening of the lateral border of the scapula, Clinodactyly of the 5th... OMIM:161200
Fryns Syndrome
Congenital diaphragmatic hernia, Aganglionic megacolon, Clinodactyly of the 5th finger, Polyhydra... ORPHA:2059
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Posterior rib fusion ORPHA:1797
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Coxa valga, Genu varum, Camptodactyly,... OMIM:224690
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Tracheoesophageal fistula, Patent ductus arteriosus, Ventri... ORPHA:77298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Spondylocostal Dysostosis 5
Pectus carinatum, Supernumerary ribs, Posterior rib fusion, Missing ribs OMIM:122600
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Split hand, Short ribs, Irregular carpal bones, Shallow ... OMIM:252600
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Gastroesophageal reflux, Brachydactyly, Bicuspid aortic valve, Vent... OMIM:617450
Emanuel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Recurrent respiratory infections, Gastroesophag... ORPHA:96170
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus ... OMIM:245600
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Inguinal hernia, Tracheomalacia, Bell-shaped thorax,... OMIM:608022
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Fanconi Anemia
Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tracheoesophageal ... ORPHA:84
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Inguinal hernia, Postaxial ... OMIM:175700
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal... ORPHA:261197
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Emphysema, Atelectasis, Inguinal hernia, Sandal gap, Gastroesophageal reflux, Mo... OMIM:613177
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mosaic Trisomy 16
Large placenta, Abnormality of the gastrointestinal tract, Meckel diverticulum, Single transverse... ORPHA:1708
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Tracheomalacia, Paten... ORPHA:2745
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p... OMIM:611812
Congenital Myopathy 22B, Severe Fetal
Pectus excavatum, Ascites, Nonimmune hydrops fetalis, Thoracic hypoplasia, Elbow flexion contract... OMIM:620369
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Hypoplasia of the diaphragm, Abnormal... ORPHA:185
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, ... OMIM:618280
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Marden-Walker Syndrome
High, narrow palate, Dextrocardia, Inguinal hernia, Abnormal sternum morphology, High palate, Cam... OMIM:248700
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Palmar pits, Abnormal sternum morphology, Short ribs, Spina bi... OMIM:109400
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Patent ductus arteriosus, Narrow chest, Single transverse palmar crea... OMIM:619148
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Truncus arteriosus, Femoral bowing, H... OMIM:615415
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing rib... OMIM:251230
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sandal gap, High palate, Pectus excavatum, Cleft palate, Pulmona... OMIM:612530
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Pulmonary hypoplasia, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Bilateral lung agenesis, Inguinal hernia, Hypoplastic left atriu... OMIM:601186
Holt-Oram Syndrome
Pectus excavatum, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal metacarpal mo... ORPHA:392
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Abnormality of the diaphragm, Polyhydramnios, Thoracic kyphoscoliosis, Wris... OMIM:616503
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Trach... ORPHA:1780
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles, Short thorax, ... ORPHA:50945
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short... OMIM:618188
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Narrow chest, Halberd-shaped pelv... ORPHA:2635
Feingold Syndrome 1
Gastrointestinal atresia, Tricuspid atresia, Polyhydramnios, Esophageal atresia, 2-3 toe syndacty... OMIM:164280
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
Hypophosphatasia, Infantile
Metaphyseal cupping, Short ribs, Micromelia, Short lower limbs, Rachitic rosary, Bowing of the legs OMIM:241500
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Intestinal atresia, Recurrent respiratory infections, ... ORPHA:2970
Trisomy 18
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Narrow palate, Anenc... ORPHA:3380
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Pectus excavatum, Arachnodactyly, Ol... OMIM:219100
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Brachydactyly OMIM:613819
Spondylospinal Thoracic Dysostosis
Short thorax, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy... OMIM:107480
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Repeated pneumothora... OMIM:617602
Zaki Syndrome
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Patent foramen ovale, High palat... OMIM:619648
Congenital Myopathy 17
Overlapping fingers, Polyhydramnios, Narrow chest, Tapered finger, High palate, Pectus excavatum,... OMIM:618975
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia, Tracheomalacia OMIM:245650
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... OMIM:108720
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Abnormal rib morphology, Congenital hip dislo... ORPHA:1647
Cree Mental Retardation Syndrome
Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs... OMIM:606851
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Tracheomalacia, Secundum atrial septal defect, Pulmonary ... OMIM:202650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Tracheal atresia, Patent ductus arteriosus, Abnormal car... OMIM:601612
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Rib fusion, Contracture of the proximal interphalangeal joint... OMIM:609813
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum OMIM:618624
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Incr... OMIM:619879
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Inguinal hernia, Spina bifida occulta, Finger syndactyly, Abnor... ORPHA:2990
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Fetal Akinesia Deformation Sequence
Polyhydramnios, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of finge... ORPHA:994
Meacham Syndrome
Congenital alveolar dysplasia, Stillbirth, Transposition of the great arteries, Partial anomalous... OMIM:608978
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Microcolon, Pulmonic stenosis, Intestinal malrotation, Cervical ... OMIM:600001
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short thorax, Short long bone, Short ribs, Enl... ORPHA:3003
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Polyhydramnios, Encephalocele, Narrow chest, Short thorax, Microm... ORPHA:93274
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Pectus carinatum, Ventricular hypertrophy, High... OMIM:208050
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, High palate, Pectus excavatum, Coronary-pu... OMIM:619699
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Short long bone, Bowing of the long bones, Micromelia, Neonatal death, P... OMIM:224410
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilat... OMIM:618022
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Short sternum, Diaphragmati... OMIM:222448
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Cleft palate, Brachydactyly, ... ORPHA:2145
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Limb undergrowth, Aplasia/Hypoplasia of the lungs, Abnormal limb... ORPHA:2204
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal clavicle morphology, Encephaloc... ORPHA:991
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I... OMIM:229850
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh... OMIM:620073
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia... OMIM:613803
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Absent radius, Overlap... OMIM:154400
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... OMIM:607143
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Nonimmune hydrops fetalis, Thoracic hypoplasia, Sm... OMIM:208150
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia, Bilateral talipes equinovarus OMIM:618174
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Missing ribs, Abnormal rib morphology, Arachnodactyly, Long palm ORPHA:2759
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe synd... OMIM:620025
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Pectus excavatum, Sprengel anoma... OMIM:304110
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Mesomelia, Hip dislocation, Trachea... ORPHA:818
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Bilateral single transverse palmar creases, Pectus carinatum, Arachnodactyly, Recurrent respirato... ORPHA:1548
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology OMIM:602196
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Polyhydramnios, Gastroesophageal reflux, Hig... ORPHA:363528
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Glossitis, High palate, Tracheoesophageal fistula, Patent ductus arteriosus, Atrial... OMIM:277380
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal lung lobation, Transposition of... ORPHA:3097
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Dysphagia, ... OMIM:601559
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Clinodactyly of the 5th finger, Esophageal atresia, Spina bifida occulta... OMIM:301030
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Pectus excavatum... OMIM:304120
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Hip dysplasia, Recurrent respiratory infections, ... ORPHA:412035
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Recurrent respiratory infections, Pulmonary arte... OMIM:616777
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Submucous cleft hard palate,... ORPHA:250999
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Pectus excavatum, Missing ribs ORPHA:52047
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Metatarsus ... OMIM:616266
Autosomal Recessive Amelia
Polyhydramnios, Amelia involving the upper limbs, Acromelia of the lower limbs, Aplasia/Hypoplasi... ORPHA:1027
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Complete duplicatio... OMIM:227646
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Malrotation... OMIM:122470
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Cardiomyopathy, Pectus excavatum, Broad thumb, Umbilical hernia,... ORPHA:373
Oligomeganephronia
Congenital diaphragmatic hernia, Dehydration, Pulmonary venous occlusion, Secundum atrial septal ... ORPHA:2260
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Short long bone, Camp... OMIM:113000
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia, Spina bifida occulta OMIM:184400
Martinez-Frias Syndrome
Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden... OMIM:601346
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Anal stenosis, Polyhydramnios, Abnormal ilium morphology, Gastro... OMIM:614080
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal rib morphology ORPHA:2790
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Inguinal hernia, Gastr... OMIM:618651
Charge Syndrome
Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysp... OMIM:214800
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Pectus carinatum, Pectus excavatum, Arachnodactyly, Slender long bones w... ORPHA:536467
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Synda... OMIM:600325
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Enlarged thorax, Camptodactyly of finger, Abnormal pleura morphology, Adducted t... ORPHA:2570
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest OMIM:617661
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process OMIM:612913
Distal Triplication 15Q
Abnormal sternum morphology, High palate, Camptodactyly, Arachnodactyly, Abnormal heart morpholog... ORPHA:314588
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Mecke... OMIM:312870
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T... OMIM:266920
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Postaxial hand polydactyly, Cleft palate, Brachydactyly, Abnorma... ORPHA:2075
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifida occulta, Prominent ste... OMIM:617877
Distal Deletion 15Q
Congenital diaphragmatic hernia, Short finger, 2-3 toe cutaneous syndactyly, Finger clinodactyly,... ORPHA:1596
Tetrasomy 5P
Clinodactyly of the 5th finger, Short hallux, High palate, Pectus excavatum, Long fingers, Pulmon... ORPHA:3309
Charge Syndrome
Polydactyly, Abnormal aortic valve morphology, Abnormal tibia morphology, Clinodactyly of the 5th... ORPHA:138
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Cervical ribs, Transposition of t... ORPHA:2255
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short distal phalan... ORPHA:86822
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Abnormal tracheal morphology, Lymphede... OMIM:616006
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Inguinal hernia, Pectus carinatum, Lymphedema, Pectus excavatum, Epiphy... OMIM:607131
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, High, narrow palate, Atrioventricular canal defect, Inguinal her... ORPHA:2409
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Short long bone, Postaxial hand polydactyly, Short ribs, Postaxial... OMIM:617088
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Emphysema, Inguinal hernia,... OMIM:614437
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Sandal gap, Ascites, Oligohydramnios, Aplasia/Hypoplasia of the lungs ORPHA:1046
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate ORPHA:95706
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Penile Agenesis
Rectal fistula, Bilateral lung agenesis, Anorectal anomaly, Tracheoesophageal fistula, Bilateral ... ORPHA:49
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Polyhydramnios, Narrow chest, Short greater sciatic notch, Femora... ORPHA:1860
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Short thorax, Single tr... OMIM:218330
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab... ORPHA:2319
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Clinodactyly, Transposition of the great arteries... OMIM:256520
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Glossoptosis, Pectus exca... ORPHA:2886
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Spina bifida occulta, Short thorax, Pectus excavatum, Missing ribs, Myelomeni... OMIM:613686
Cebalid Syndrome
Congenital diaphragmatic hernia, High palate OMIM:618774
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal thorax morphology, Recurrent respiratory infections, Sh... ORPHA:280
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Inguinal hernia, Coronary artery fistula, Pectus e... OMIM:614294
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Intestinal perforation, Tracheoesophageal fistula, Abnormal myocardi... ORPHA:537
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Acalvaria
Abnormal lung lobation, Postaxial hand polydactyly, Omphalocele, Spina bifida, Cleft palate ORPHA:945
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Talipes equinovarus, Postaxial hand polydactyly, Cleft pala... OMIM:612284
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Tracheoesophageal fistula, Anal atresia, Intestinal malrotation, Aplasia/Hypoplasia of the radius... ORPHA:2973
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:88630
Genitopatellar Syndrome
Gastroesophageal reflux, Hypoplastic ilia, Hypoplastic ischia, Short palm, Hip contracture, Radio... ORPHA:85201
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Recurrent respiratory infections, Patent fora... ORPHA:980
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Congenital muscular torticollis, Ectopic anus, Anal atresia, Spina ... ORPHA:2345
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Aplasia ... ORPHA:3472
Septo-Optic Dysplasia Spectrum
Cleft palate, Esophageal atresia, Tracheoesophageal fistula ORPHA:3157
Iniencephaly
Congenital diaphragmatic hernia, Rocker bottom foot, Polyhydramnios, Rhizomelia, Anencephaly, Enc... ORPHA:63259
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital... OMIM:236700
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Cleft palate, Supernumerary ribs,... OMIM:613309
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Pa... OMIM:618454
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly ORPHA:370079
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Encephalocele, Narrow chest, Pericardial effusion, Cleft pa... OMIM:613885
Caudal Regression Syndrome
Abnormal iliac wing morphology, Abnormal pelvic girdle bone morphology, Anal atresia, Missing rib... ORPHA:3027
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Micrognathia, 11 pairs of ribs OMIM:618356
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Abnormal lung morphology, Duodenal stenosis, Pulmonary hypoplasia ORPHA:2470
Alg9-Cdg
Narrow greater sciatic notch, Short long bone, Abnormal heart morphology, Bifid uvula, Right vent... ORPHA:79328
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ascites, Neonatal death, Pulmonary hypoplasia, Thoracic hypoplasia, Dysphagia, No... OMIM:608013
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial hand polydactyly... OMIM:200995
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal her... ORPHA:1272
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormal rib morphology, Hand polydactyly, Cleft palate, Abnormal... ORPHA:2167
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus... OMIM:615996
Seckel Syndrome 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... OMIM:210600
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Chronic Granulomatous Disease
Pyloric stenosis, Recurrent respiratory infections, Tracheoesophageal fistula ORPHA:379
White-Sutton Syndrome
Congenital diaphragmatic hernia, Gastroesophageal reflux, Facial hypotonia, Patent foramen ovale,... OMIM:616364
Ritscher-Schinzel Syndrome 1
Micrognathia, Syndactyly, Missing ribs OMIM:220210
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Ingui... ORPHA:221120
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Coxa... ORPHA:1988
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Missing ribs, Rib fusion OMIM:271520
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Myelomening... OMIM:305600
Williams Syndrome
Pectus excavatum, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prolapse, Umbilical ... ORPHA:904
Meier-Gorlin Syndrome 7
Anal stenosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyly, Clu... OMIM:617063
Teebi Hypertelorism Syndrome 1
Omphalocele, Pulmonary hypoplasia, Broad palm, Atrial septal defect, Ventricular septal defect, S... OMIM:145420
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, High, narrow palate, Cubitus valgus, Bell-shaped thorax, Epiphyseal stippling... OMIM:214100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Abnormal ... ORPHA:254534
Treacher-Collins Syndrome
Encephalocele, Rectovaginal fistula, Abnormal dental enamel morphology, Glossoptosis, High palate... ORPHA:861
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My... ORPHA:93322
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Inguinal hernia, Abnormal sternum morphology, Ventricular hypert... OMIM:619656
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Narrow chest, Short ribs, Postaxial hand polydactyly, Pectus excavatum, ... OMIM:613610
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft pa... OMIM:614815
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Cdags Syndrome
Short clavicles, Short ribs OMIM:603116
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios OMIM:602088
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Bilateral talipes equinovarus, Anal atresia, Cleft... OMIM:614083
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Short 5th finger, 2-3 toe syndactyly, Th... ORPHA:508498
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Preax... ORPHA:96179
Holoprosencephaly
Congenital diaphragmatic hernia, Intestinal atresia, Encephalocele, Gastroesophageal reflux, Bran... ORPHA:2162
Meckel Syndrome, Type 1
Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Syndact... OMIM:249000
Dyskeratosis Congenita
Anorectal anomaly, Esophageal stenosis, Tracheoesophageal fistula, Coarse metaphyseal trabeculari... ORPHA:1775
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Limb hypertonia, Pulmonary hypoplasia, Cardiomegaly, Short femur, Short tibia, Tali... OMIM:620306
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Inguinal hernia, Umbilical hernia, Hip dysplasia... OMIM:618846
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydrops fetalis, Atelectasis, Hammertoe, Limb hypertonia, Hydranencephaly, Tracheo... OMIM:620371
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Single transverse palmar cr... OMIM:269150
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Pectus excavatum, Aplasia of... OMIM:142900
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Neu-Laxova Syndrome
Muscular dystrophy, Polyhydramnios, Aplasia/Hypoplasia involving the skeletal musculature, Spina ... ORPHA:2671
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Pulmona... OMIM:619708
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Cleft palate ORPHA:1915
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Ectopic anus... ORPHA:2549
Restrictive Dermopathy 1
Rocker bottom foot, Short umbilical cord, Atrial septal defect, Thin clavicles, Stillbirth, Polyh... OMIM:275210
Ulbright-Hodes Syndrome