Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
WW domain binding protein 11
Synonyms:
Npwbp,  SIPP1,  2510026P17Rik,  D6Wsu113e

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 Wbp11 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 Wbp11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Unilateral renal agenesis, Wide nose, Butterfly vertebrae, Submucous cleft hard ... OMIM:619227

The table below shows human diseases predicted to be associated to Wbp11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Depressed nasal bridge, Rhizomelia, Unilateral renal agenesis, Renal hypo... OMIM:617661
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... OMIM:608681
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Delayed skeletal maturation, M... ORPHA:3268
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Abnorm... ORPHA:2522
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of ... ORPHA:2759
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Verheij Syndrome
Branchial cyst, Clinodactyly, Short neck, Hip dislocation, Short nose, Short 5th finger, Broad na... OMIM:615583
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilater... OMIM:619859
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short n... OMIM:122600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Sandal gap, Abn... ORPHA:2180
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Short neck, Sprengel anom... ORPHA:958
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa... OMIM:619345
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Cleft ... OMIM:214300
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Short thorax, Intrauterine growth retardation, Anteverte... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Anal atresia, ... OMIM:309620
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Anal atresia, Abnormal sacrum morphology, S... ORPHA:1436
Bresek Syndrome
Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Vesicoureteral refl... ORPHA:85284
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Intrauterine growt... OMIM:220210
Cerebrofaciothoracic Dysplasia
Cerebral cortical atrophy, Narrow chest, Cleft upper lip, Wide mouth, Polyhydramnios, Hypoplasia ... ORPHA:1394
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Decreased testicular... ORPHA:2234
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Unilateral renal agenesis, Wide nose, Butterfly vertebrae, Submucous cleft hard ... OMIM:619227
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Cryptorchid... OMIM:108720
Braddock Syndrome
Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardation, Missing ri... ORPHA:52047
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Long philtrum, Bulbous nose, Acetabular dysplasia, Cervical C2/C3 vert... OMIM:616549
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped chest, Hip contracture, Short neck,... OMIM:178110
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Diaphanospondylodysostosis
Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S... ORPHA:66637
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
3C Syndrome
Finger syndactyly, Postnatal growth retardation, Short neck, Anal atresia, Hypospadias, Short nos... ORPHA:7
Osteoglosphonic Dysplasia
Severe short stature, Choanal atresia, Rhizomelia, Abnormal clavicle morphology, Abnormal form of... ORPHA:2645
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger, Intrauterine ... OMIM:312150
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Cryptorchidism, Short neck, High palate, Hip dis... ORPHA:99776
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Reduced cerebral white matter volume, Downturned corners of mouth, Long philtr... OMIM:617333
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ... OMIM:614701
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... OMIM:118100
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Cryptorchidism, Patellar aplasia, Narrow mouth, Arachn... OMIM:265000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Broad thumb, ... ORPHA:370010
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Trigonocephaly 1
Wide nasal bridge, Lumbar hemivertebrae, High, narrow palate, Long penis, Meckel diverticulum, Lo... OMIM:190440
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Ectopic kid... OMIM:212780
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Cryptorchidism, Neonatal death, Micropen... OMIM:146510
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral nec... OMIM:184255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short ribs, Missing ribs, R... OMIM:271520
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po... ORPHA:294975
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synosto... OMIM:151050
Al Kaissi Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Small hand, Clin... OMIM:617694
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Hypoplastic cervical vertebrae, Abnor... ORPHA:2635
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Short distal phalanx of finger, Myelomeningocele, Intrau... ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Pectus carinatum, Downturned corners of mouth, Bilateral cryptorchidism, ... OMIM:617796
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fetal distress, Broad ribs, Osteomyelitis, Splenomegaly, Joint swelling, Flaring of r... OMIM:612852
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Becker Nevus Syndrome
Cervical ribs, Hemivertebrae, Unilateral breast hypoplasia, Pectus excavatum, Scoliosis OMIM:604919
Lamb-Shaffer Syndrome
Broad nasal tip, Thick vermilion border, Mild postnatal growth retardation, Microcephaly, Fused c... ORPHA:530983
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Disproportionate short stature, Vertebral wedging, Abnormal form of the v... ORPHA:40
Kbg Syndrome
Cryptorchidism, Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation... ORPHA:2332
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:253290
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Diamond-Blackfan Anemia 7
Choanal atresia, Osteopenia, Increased mean corpuscular volume, Short thumb, Fetal distress, Hors... OMIM:612562
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... ORPHA:3320
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Pancytopenia, Hypersplenism, Hepatomegaly, Thoracic kyphoscoliosis, Choanal atresia... OMIM:613385
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Microcephaly, Hemivertebrae, Short stature, Anal atresia, Low hanging columella... OMIM:619318
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Choanal atresia, Ulnar deviation of finger, Short 1st metacarpal, Triph... ORPHA:949
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Short neck, Hypospadias, Vertebral ... ORPHA:2311
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Microcephaly, Fused... ORPHA:1445
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, An... ORPHA:2319
Diaphanospondylodysostosis
Bell-shaped thorax, Decreased skull ossification, Short neck, Disproportionate short-trunk short ... OMIM:608022
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Overlapping toe, Hypoplasia of the corpus cal... OMIM:213980
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental e... ORPHA:2916
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Deviation of finger, Bilateral cleft palate, Vertebral segmentati... ORPHA:1104
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Cryptorchidism, Agenesis of corpus ... ORPHA:77298
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Radio... ORPHA:1988
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral calcification, Cryptorchidism, Bowing... ORPHA:628
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Atelosteogenesis, Type Ii
Increased intervertebral space, Short neck, Short greater sciatic notch, Flat acetabular roof, Ce... OMIM:256050
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Sprengel anomaly, Vertebral wedging, Calcification of falx cer... OMIM:109400
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Intellectual Developmental Disorder, Autosomal Dominant 1
Secondary microcephaly, Postnatal growth retardation, Open mouth, Everted lower lip vermilion, Sh... OMIM:156200
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Gapo Syndrome
Decreased skull ossification, Everted lower lip vermilion, Choanal atresia, Delayed skeletal matu... ORPHA:2067
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Prominent nasal bridg... ORPHA:1703
Postaxial Acrofacial Dysostosis
Choanal atresia, Congenital hip dislocation, Conical tooth, Supernumerary vertebrae, Short thumb,... OMIM:263750
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the ureter, Abnormal gastrointestinal tract morphology,... ORPHA:1834
Gorlin Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Cerebral calc... ORPHA:377
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Abnormal lung lobation, Camptodactyly of finger... ORPHA:2631
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Congenital hip dislocation, Absent nipple, Umbilical h... OMIM:104350
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
X-Linked Intellectual Disability, Snyder Type
Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Cerebral edema, High p... ORPHA:3063
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Craniofacial osteosclerosis, Cortical sclerosis, Diaph... OMIM:122860
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Ope... ORPHA:93932
Poland Syndrome
Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, En... ORPHA:2911
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Zttk Syndrome
Small hand, Absent gallbladder, Narrow mouth, Hypoplasia of the corpus callosum, Breech presentat... OMIM:617140
Microform Holoprosencephaly
Choanal atresia, Panhypopituitarism, Intrauterine growth retardation, Narrow nasal bridge, Anteve... ORPHA:280200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Postnatal growth retardation, Contracture of the distal interphalangeal joint of the f... ORPHA:83617
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Squared iliac bones, Umbilical hernia, Shoulder dislocation, Knee dislocation, Crypto... OMIM:618000
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Megalencephaly, Premature ru... OMIM:100800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal hypoplasia, Ureteral agenesis, Bulbous nose, Anteverted nares, Oligohydram... OMIM:236500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Decreased skull ossification, Short neck, Multiple prenatal fractures... OMIM:616897
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Microcephaly, Thin upper lip vermilion, Smooth philtrum, Micropenis, Hemivertebra... ORPHA:370079
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, D... OMIM:609053
Raine Syndrome
Natal tooth, Long hallux, Cerebral calcification, Narrow mouth, Protruding tongue, Neonatal death... OMIM:259775
Fetal Akinesia Deformation Sequence 1
Thin ribs, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, Elbow ankylosis, High palat... OMIM:208150
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Gastroesophageal reflux, Broad thumb, Prominent fingertip pads, Long philtrum, Thoracic hemiverte... OMIM:619721
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Absent radius, Abnormal nasopharynx morphology, Anal atresia, Syndac... OMIM:607323
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Postnatal growth retardation, Punctate verteb... OMIM:302960
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, B... OMIM:135100
Burn-Mckeown Syndrome
Choanal atresia, Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Bilateral choanal atre... OMIM:608572
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Protruding tongue, Hypospadias, Widel... OMIM:301040
Lamb-Shaffer Syndrome
Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Dental crowding, Clinodactyly, Bulbo... OMIM:616803
Cornelia De Lange Syndrome 1
Cryptorchidism, Short neck, High palate, Dislocated radial head, Ectopic kidney, Hypospadias, Hig... OMIM:122470
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Thakker-Donnai Syndrome
Downturned corners of mouth, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Nar... ORPHA:1780
Thanatophoric Dysplasia, Type I
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat... OMIM:187600
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, High palate, Cleft lip, K... OMIM:619110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Vertebral segmentation defect, Short long bone, Shor... OMIM:618845
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Hypoplasia of the corpus callosum, Anal atresia, Short foot, Hip dislocation, Choanal... OMIM:300968
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Abnormal rib morphology, Delayed cranial suture closure, Camptodac... ORPHA:83
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Underdeveloped nasal a... OMIM:184460
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Torus palatinus, Generalized ost... ORPHA:2790
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Irregula... OMIM:619148
Anauxetic Dysplasia 2
Short neck, Hypoplastic iliac body, Metaphyseal dysplasia, Thoracolumbar kyphoscoliosis, Ovoid ve... OMIM:617396
Mosaic Trisomy 20
Narrow chest, Cleft lip, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Intrauterine grow... ORPHA:1724
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Finger syndactyly, Open bite, Cryptorchidism, Anodontia, Short neck, Hypospadi... ORPHA:3107
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Basal ganglia calcification, Cerebral calcification, Cryptorchidis... OMIM:620371
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Fused cervical vertebrae ORPHA:238722
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Abnormal form of the vertebral bodies, Abnormal palate morphology, Abnormal meta... ORPHA:93262
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Limited elbow movemen... OMIM:134780
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Cleft upper lip, Polymicrogyria, 11 pairs of ribs, ... OMIM:264480
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Short foo... ORPHA:915
Robinow Syndrome
Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in ... ORPHA:97360
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Recurrent pneumonia, Thoracic hypoplasia, Short femoral ... OMIM:602271
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Thickened nucha... ORPHA:93298
Aicardi Syndrome
Postnatal growth retardation, Hepatoblastoma, Polymicrogyria, Butterfly vertebrae, Missing ribs, ... OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis... ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Depressed nasal bridge, Broad nasal tip, Scoliosis, Cleft lip, Decrea... OMIM:618223
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Microcephaly, Vertebral fusion OMIM:251250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul... ORPHA:95699
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Aplasia/Hypoplasia of th... ORPHA:2970
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Disproportionate short... ORPHA:85166
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... ORPHA:1801
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Cryptorchidism, Hypoplasia of the corpus callo... OMIM:206900
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Abnormal ulnar meta... ORPHA:85198
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, ... ORPHA:2463
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Absent vertebral body mineralization, Delayed ... ORPHA:93296
Meier-Gorlin Syndrome 7
Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Urethral stricture, Dislocated r... OMIM:617063
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnormal femoral met... OMIM:200600
Shashi-Pena Syndrome
Unilateral renal agenesis, Broad nasal tip, Reduced cerebral white matter volume, Intrauterine gr... OMIM:617190
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, ... OMIM:617159
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Narrow mouth, Neonatal death, Hypospa... OMIM:275210
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Gastroesophageal reflux, Limitation of joint mobility, Interphalangeal joint con... OMIM:151200
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Aplasia... ORPHA:887
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Joint stiffness, Abnormal hip bone morphology, Vesicou... ORPHA:1166
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Thin upper lip vermilion, Short neck, Short stat... ORPHA:2015
Frontometaphyseal Dysplasia 2
Broad thumb, Cryptorchidism, Hip contracture, Dislocated radial head, High palate, Short metacarp... OMIM:617137
Koolen-De Vries Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Arachnodactyly, Everted lower lip verm... ORPHA:96169
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Bifid uvula, Toe syndactyly, Finger syndactyly, Broad th... ORPHA:87
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Fibrous syngnathia, Lip ... ORPHA:1300
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Short stature, Pectus excavat... ORPHA:93302
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Anteriorly placed anus, Abnor... ORPHA:280195
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Nemaline Myopathy 9
Narrow chest, Arthrogryposis multiplex congenita, Fetal akinesia sequence, Breech presentation, P... OMIM:615731
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Microcephaly, Abnormal rib morphology ORPHA:2435
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Choanal atresia, Nephrocalcinosis, Osteopenia, Metaphyseal cupping, Tooth m... OMIM:156400
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Short neck, Chordee,... OMIM:166250
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Downturned corn... ORPHA:521308
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Choanal atresia, Prominent nasal bridge, Agenesis of corpus callosum, Short neck, Short stature, ... ORPHA:52055
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Abnormal mesentery m... ORPHA:2167
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Narrow mouth, 2-5 finger cutaneous syndactyly, Anal atresia, 2-5 to... OMIM:617746
Progressive Non-Infectious Anterior Vertebral Fusion
Wide nasal bridge, Depressed nasal bridge, Proximal radio-ulnar synostosis, Abnormality of the ve... ORPHA:2062
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Narrow mout... OMIM:611209
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia o... ORPHA:818
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis... OMIM:602535
Sprengel Deformity
Abnormal shoulder morphology, Short neck, Cleft palate ORPHA:3181
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Amniotic ... ORPHA:1486
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo... ORPHA:90650
Ulna Metaphyseal Dysplasia Syndrome
Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal f... ORPHA:1837
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Choanal atresia, Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryp... OMIM:300472
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Delayed eruption of primary teeth, Midgut malrotation,... ORPHA:2409
Microcephaly 10, Primary, Autosomal Recessive
Choanal atresia, Reduced cerebral white matter volume, Cerebral atrophy, Intrauterine growth reta... OMIM:615095
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis b... ORPHA:1426
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Cryptorchidism, Short neck, Anal atresi... OMIM:305450
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Doors Syndrome
Wide nasal base, Aspiration pneumonia, Thrombocytosis, Short lingual frenulum, Adrenal hyperplasi... ORPHA:79500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen... OMIM:609223
Trisomy 10P
Thumb contracture, Absent gallbladder, Periventricular white matter hypodensities, High palate, R... ORPHA:171929
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Pectus carinatum, Gastroesophageal reflux, Exaggerated median tongue furrow, Denta... ORPHA:313892
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... ORPHA:1112
Keratoconus Posticus Circumscriptus
Cleft upper lip, Vesicoureteral reflux, Limited elbow extension and supination, Short neck, Brach... OMIM:244600
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Cr... ORPHA:3412
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Radioulnar ... OMIM:192350
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Osteopenia, Clinodactyly, Ectrodactyly, Cleft upper lip, Tooth agenesis... OMIM:147950
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, S... ORPHA:3035
Rere-Related Neurodevelopmental Syndrome
Choanal atresia, Hypospadias, Gastroesophageal reflux, Postnatal growth retardation, Intrauterine... ORPHA:494344
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, High, narr... ORPHA:261330
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature, Abnormal ... ORPHA:93304
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Prominent nasal bridge, Microcephaly, Short stature, Pectus excavatum,... ORPHA:85273
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Aspergillosis
Pneumonia, Abnormality of the vertebral column, Hepatitis, Nasal congestion, Osteomyelitis, Pleur... ORPHA:1163
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Short thorax, Abnormal enchondral ossification, Umbilical her... ORPHA:93299
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphol... ORPHA:1199
Kabuki Syndrome
Small hand, Cryptorchidism, Vertebral clefting, High palate, Hypospadias, Hip dislocation, Short ... ORPHA:2322
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossification of carpal... OMIM:618363
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Joint disloca... ORPHA:1190
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ... ORPHA:2369
Caudal Regression Syndrome
Pulmonary hypoplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, A... ORPHA:3027
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Macroglossia, Gastroesophageal reflux, Cerebral atrophy, Anteverted nares, Decreased fetal moveme... OMIM:619876
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Cryptorchidism, Anal atresia, Non-midlin... ORPHA:3380
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Tracheomalacia, Downturned corners of mouth, Aspira... OMIM:616368
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Pontine Tegmental Cap Dysplasia
Hypoplasia of the corpus callosum, Ankle clonus, Rib fusion, Dysphagia, Hemivertebrae, Scoliosis OMIM:614688
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Lymphedema, Oligohydramnios, Abnormal thorax morp... ORPHA:1318
Chromosome 9P Deletion Syndrome
Narrow mouth, Short neck, High palate, Hypospadias, High, narrow palate, Choanal atresia, Thin up... OMIM:158170
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Intrauterine growth retardation, Oligohydramnios, ... ORPHA:2145
Thanatophoric Dysplasia
Platyspondyly, Depressed nasal bridge, Narrow chest, Abnormal ilium morphology, Disproportionate ... ORPHA:2655
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Anteverted nares, Gingival overgrowth, Reduced bone mineral d... ORPHA:561
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality ... ORPHA:2616
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Cryptorchidism, ... ORPHA:2658
Restrictive Dermopathy
Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Large placenta, Narrow mou... ORPHA:1662
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidism, Barrel-shap... OMIM:276820
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Narrow mouth, Encephalocele, Cryptorchidism, Shor... ORPHA:1865
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Short toe, De... ORPHA:1327
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Cholestasis, Thoracolumbar scoliosis, Hepatomegaly, Polycystic kidney dysplasia, Choanal atresia,... OMIM:610199
Three M Syndrome 1
Postnatal growth retardation, Short neck, Hypospadias, Hip dislocation, Short 5th finger, Joint d... OMIM:273750
Marden-Walker Syndrome
Joint contracture of the hand, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Agenes... OMIM:248700
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Hip dislocation, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Lu... OMIM:619451
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology, Short stature, Ectopic kidney ORPHA:2578
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Perineal fistula, ... ORPHA:2753
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Limitation of joint mobility, Disproportionate short-limb short ... ORPHA:93351
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... OMIM:271630
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal mor... ORPHA:3104
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Na... OMIM:600920
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Atelectasis, Open mouth, Protruding tongue, Recurrent lowe... ORPHA:258
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... ORPHA:582
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Disproportionate short-limb short sta... OMIM:259440
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand... ORPHA:1159
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hip dislocation, Microglossia, Occipital encephalocele, Toe syndactyly, P... OMIM:241800
Lethal Congenital Contracture Syndrome 10
Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Intrauterine growth retardati... OMIM:617022
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Open bite, Congenital pyloric atresia, Reduced bone mineral ... ORPHA:2617
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Distal Deletion 17Q
Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the... ORPHA:1597
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Tarsal synostosis, Short foot, Fused cervical vertebrae, Gastroesophageal refl... OMIM:157800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Hypoplasia of the corpus callosum, Arachnodactyly, Dysphagia, Short nose, Abn... ORPHA:500150
Microcephaly-Micromelia Syndrome
Short tibia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Humeroradial synostosis, Ne... OMIM:251230
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Cervical ribs, Intestinal ma... ORPHA:77300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Flat acetabular roof, Hig... OMIM:614091
Diastrophic Dysplasia
Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproporti... OMIM:222600
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona... ORPHA:239
Roifman Syndrome
Postnatal growth retardation, Hip contracture, Hepatomegaly, Short metacarpal, Irregular vertebra... OMIM:616651
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... OMIM:609616
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Arthrogryposis multiplex congenita, Dental crowding, Internally rotate... OMIM:617468
Edinburgh Malformation Syndrome
Choanal atresia, Slender finger, Ulnar deviation of finger, Downturned corners of mouth, Joint st... ORPHA:1895
Deeah Syndrome
Overlapping fingers, Narrow mouth, Cryptorchidism, Prominent nasal tip, Short neck, Micropenis, C... OMIM:619004
Noonan Syndrome 7
Depressed nasal bridge, Pectus carinatum, Growth delay, Joint hypermobility, Cubitus valgus, Shor... OMIM:613706
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal ... OMIM:102370
Three M Syndrome 2
Thin ribs, Clinodactyly, Prominent nasal tip, Short neck, High palate, Short 5th finger, Pectus c... OMIM:612921
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Hypoplasia of the odontoid process, Lymphopenia, Narrow vertebral i... OMIM:250250
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Dispro... OMIM:184250
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, Short neck, Ant... OMIM:300232
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Small abnormally formed scapulae, Narrow chest, Hypoplastic ilia, Lethal short-lim... OMIM:187601
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Monosomy 9P
Limitation of joint mobility, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Short ne... ORPHA:261112
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Hypopituitarism, Polydactyly affecting t... ORPHA:672
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, High palate, Broad nasal tip, Vertebral segmentation defect... OMIM:612530
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Long philtrum, Broad long bones, Short tubular bones o... OMIM:200610
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand... OMIM:607597
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell... OMIM:614524
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Chromosome 16P13.3 Duplication Syndrome
Cryptorchidism, Short neck, Hip dislocation, Short nose, Wide nose, Short toe, Cervical C5/C6 ver... OMIM:613458
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed skeleta... ORPHA:2643
Alagille Syndrome 1
Cholestasis, Cirrhosis, Long nose, Focal segmental glomerulosclerosis, Bulbous nose, Butterfly ve... OMIM:118450
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Wide nasal bridge, Anisospondyly, Occipital encephalocele, Disproportionate... OMIM:224410
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Rhizomelia, Platyspondyly, Metaphyseal cupping of metacarpals, ... OMIM:300863
Mosaic Trisomy 8
Limitation of joint mobility, Cryptorchidism, Patellar aplasia, Agenesis of corpus callosum, Shor... ORPHA:96061
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Cryptorchidism, Encephaloce... ORPHA:2162
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Dispropor... OMIM:253010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Arthralgia of the hip, Broad femoral neck, Flared femoral me... OMIM:609324
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnorma... ORPHA:52
Renpenning Syndrome
Severe short stature, Hypospadias, High, narrow palate, Broad columella, Decreased testicular siz... ORPHA:3242
Crouzon Syndrome
Choanal atresia, Multiple suture craniosynostosis, Convex nasal ridge, Narrow palate, Abnormal sa... ORPHA:207
Koolen-De Vries Syndrome
Pear-shaped nose, Cryptorchidism, Hypoplasia of the corpus callosum, Open mouth, Everted lower li... OMIM:610443
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morphology, Cryptorchidism, Shor... ORPHA:163654
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular r... ORPHA:168555
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Overlapping toe, Large placenta, Open mouth, Flexion contracture of... ORPHA:254528
Cloacal Exstrophy
Hip dislocation, Hydroureter, Ureterocele, Intestinal duplication, Myelomeningocele, Horseshoe ki... ORPHA:93929
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, ... OMIM:132400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Absence of stomach bubble on ... OMIM:314390
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Short neck, Widely-spaced maxillary central in... OMIM:148050
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, N... ORPHA:3082
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Rhizomelia, Hip dislocation, Limitation of joint mobility, Abnormal form ... ORPHA:3098
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Delayed skeletal maturation, Thick lower lip vermilion, In... OMIM:234250
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short palm, Hepatomegaly, Short fo... OMIM:269860
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arthrogryposis mul... OMIM:253310
Phaver Syndrome
Depressed nasal bridge, Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bo... ORPHA:2876
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint mobility, Tracheomalacia... ORPHA:93260
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypospadias, Wi... OMIM:211380
Coffin-Siris Syndrome 1
Postnatal growth retardation, Cryptorchidism, Hypoplasia of the corpus callosum, Aplasia/Hypoplas... OMIM:135900
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Diaphyseal undertubulation, Abnormal rib morphology, S... ORPHA:1513
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Ankyloglossia, Prolonged neonatal jaund... OMIM:620186
Sheldon-Hall Syndrome
Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Joint stiffness, ... ORPHA:1147
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Di... OMIM:613330
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Cleft lip, Arachnodactyly, Microcephaly, Long toe, Cleft palate, Thoracic kyphosis OMIM:300263
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Grant Syndrome
Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Joint dislocation, Abnorm... ORPHA:2097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizonta... OMIM:615633
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Cryptorchidism, Short neck, High palate, Hypospadias, Broad nasal tip, Tr... ORPHA:96121
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hip contracture, Short neck, Breech presentation, Hepatomegaly, High palate, Short nos... OMIM:620369
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Hatipoglu Immunodeficiency Syndrome
Intrauterine growth retardation, Pancytopenia, Cryptorchidism, Recurrent bronchitis, Proportionat... OMIM:620331
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Supernumerary nipple, Anteverted nares, Submucous cleft hard palate, Joint ... OMIM:619122
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Absent gallbladder, Neonatal death, Short neck, Anal atresia, Cleft lip... OMIM:617925
Melnick-Needles Syndrome
Tooth malposition, Delayed cranial suture closure, Bowing of the long bones, Cone-shaped epiphyse... ORPHA:2484
Bamforth-Lazarus Syndrome
Polyhydramnios, Bilateral choanal atresia, Cleft palate OMIM:241850
Bamforth-Lazarus Syndrome
Polyhydramnios, Choanal atresia, Cleft palate ORPHA:1226
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Depressed nasal bridge, Epiphyseal dysplasia, Premature osteoarthritis, Anteverted... OMIM:184840
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, E... ORPHA:1791
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Aplasia/Hypoplasia of the corpus callosum, Abnormal tongue morpholog... ORPHA:531151
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Overhanging nasal tip, Narrow nasa... ORPHA:85172
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... OMIM:166210
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Roifman Syndrome
Epiphyseal dysplasia, Postnatal growth retardation, Hepatosplenomegaly, Hypoplasia of the corpus ... ORPHA:353298
Feingold Syndrome
Depressed nasal bridge, Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal f... ORPHA:1305
Craniofacioskeletal Syndrome
Choanal atresia, Small hand, Intrauterine growth retardation, Absent gallbladder, Cryptorchidism,... OMIM:300712
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Hypospadias, Short nose, Gastroesophageal r... OMIM:618316
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Intrauterine growth retardation, Sho... ORPHA:1326
Charge Syndrome
Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Micropenis... ORPHA:138
Even-Plus Syndrome
Severe short stature, Depressed nasal ridge, Bifid nasal tip, Renal hypoplasia, Epiphyseal dyspla... OMIM:616854
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Bell-shaped thorax, Genu valg... ORPHA:56304
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... OMIM:184252
Mucopolysaccharidosis, Type X
Wide nasal bridge, Platyspondyly, Broad clavicles, Long philtrum, Irregular acetabular roof, Open... OMIM:619698
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Abnormal gastrointestinal tract ... ORPHA:2990
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Flared nostrils, Small hand, Tooth malposition, Limitation of joint mobility, Ov... ORPHA:480880
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies... ORPHA:2021
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Dental crowding, Slender long bone, Persistent open anter... OMIM:620601
Gm1-Gangliosidosis, Type I
Severe short stature, Depressed nasal ridge, Intrauterine growth retardation, Joint stiffness, Gi... OMIM:230500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Rhizomelia, Platyspondyly, Metaphyseal cupping of metacarpals, ... ORPHA:163966
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Abnormal placenta ... ORPHA:79255
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, ... OMIM:119580
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short distal phalanx of finger, Tooth agenesis, Op... ORPHA:1248
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Decreased skull ossification, Abnorm... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Disproportionate short-limb short stature, Thoracic hypoplasi... OMIM:608728
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Abnormal hip bone mo... ORPHA:3068
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... ORPHA:93941
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Arachnodactyly, Short neck, Patellar dislocation, Hy... ORPHA:567
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Broad thumb, Finger syndactyly... OMIM:101600
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip bone morphology, Hyperlordos... ORPHA:577
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Hydroureter, Duplicated colon, Anteriorly plac... OMIM:258040
Seckel Syndrome 5
Hypospadias, Abnormal cortical gyration, Delayed skeletal maturation, Selective tooth agenesis, 1... OMIM:613823
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Cryptorchidism, Radi... ORPHA:199
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Protruding tongue, Bowing of the long bones, Short metacarpal,... ORPHA:50945
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acetabular roof, S... ORPHA:163649
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyl... OMIM:618961
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Beaking of vertebral bodies, H... OMIM:150250
Choanal Atresia And Lymphedema
Pericardial effusion, Choanal atresia, High palate, Lymphedema OMIM:613611
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Elbow... OMIM:108721
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Oliguria, Elevated circulating hepatic transaminase concentratio... ORPHA:319213
Trisomy 13
High, narrow palate, Abnormality of the dentition, Narrow chest, Abnormal pelvic girdle bone morp... ORPHA:3378
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Pectus carinatum, Polysyndactyly o... OMIM:263520
Peters-Plus Syndrome
Square pelvis bone, Postnatal growth retardation, Short lingual frenulum, Cryptorchidism, Agenesi... OMIM:261540
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Overlapping toe, Cryptorchidism, Short neck, Hypospadias, U-Shaped upper lip verm... OMIM:601808
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Cryptorchidism, Hypoplasia of the corpus callosum, High palate, ... OMIM:616975
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Open bite, Agenesis of corpus callosum, Foot pol... ORPHA:2750
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Abnormal bone ossification, Diaphy... ORPHA:175
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Thick lower lip vermilion, Th... ORPHA:583
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Abnormality of the vertebral column, Cleft upper lip, Sprengel anomaly... OMIM:601076
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Pfeiffer Syndrome Type 2
Deviation of the thumb, Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint ... ORPHA:93259
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Cantu Syndrome
Thick upper lip vermilion, Broad first metatarsal, Short neck, Hypoplastic ischiopubic ramus, Sho... OMIM:239850
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Schizen... OMIM:615220
Mosaic Trisomy 16
Pulmonary hypoplasia, Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly pla... ORPHA:1708
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Postnatal growth retardation, Abnormal bone ossification, Hepatomegaly, Dysphagia, Sho... ORPHA:73230
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Narrow chest, Coronal crani... OMIM:207410
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Apla... ORPHA:3301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Methimazole Embryofetopathy
Choanal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, ... ORPHA:1923
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Diamond-Blackfan Anemia 10
Choanal atresia, Growth delay, Macrocytic anemia, Steroid-responsive anemia, Supernumerary ribs, ... OMIM:613309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Elbow contracture, Microcephaly, Abnormal cerebral white matter morphology, Hyperlo... OMIM:606612
Bainbridge-Ropers Syndrome
Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum, Arachnodactyly, Breech p... OMIM:615485
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia... OMIM:308300
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Intrauterine growth ... OMIM:617713
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... ORPHA:1507
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Anteverted nares, Abnormal hip... ORPHA:1488
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Abnormal palate m... ORPHA:2475
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of the corpus call... OMIM:269150
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat... OMIM:615777
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, High palate, Short foot, Short nose, Syndactyly, Abnormal rib cage morphology, Pr... OMIM:227330
Fetal Akinesia Deformation Sequence
Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, I... ORPHA:994
Osteogenesis Imperfecta, Type Xix
Severe short stature, Pectus carinatum, Rhizomelia, Osteopenia, Dentinogenesis imperfecta, Verteb... OMIM:301014
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skull base, Cryptorchidism, Biconc... OMIM:130720
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Decre... ORPHA:2772
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Umbilical hernia, Heparan sulfate excretion in urin... OMIM:252900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Hypoplasia of the corpus callosum, Short foot, Short nose, Choanal atre... OMIM:301044
Bruck Syndrome 1
Platyspondyly, Pectus carinatum, Ankle flexion contracture, Abnormality of the dentition, Vertebr... OMIM:259450
Treacher-Collins Syndrome
Open bite, Narrow mouth, Encephalocele, Cryptorchidism, High palate, Rectovaginal fistula, Thyroi... ORPHA:861
Cat-Eye Syndrome
Intrauterine growth retardation, Hydronephrosis, Abnormal rib morphology, Short stature, Anal atr... ORPHA:195
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Hallermann-Streiff Syndrome
Rib exostoses, Small hand, Natal tooth, Narrow mouth, Cryptorchidism, Short foot, High, narrow pa... ORPHA:2108
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Thoracic hypoplasia, Upper limb undergrowth, Anteverted nares, Nonimmune hydrops fetalis, Polyhyd... OMIM:613124
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral atrophy, Knee dislocation, Small epip... OMIM:620269
Three M Syndrome 3
Slender long bone, Long philtrum, Anteverted nares, Increased vertebral height, Thick vermilion b... OMIM:614205
Mosaic Trisomy 1
Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, Hepatic agenesis, 2-3... ORPHA:1692
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Intrauterine growth retardation, Decreased fetal movement, Distal arth... OMIM:617194
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Thick anterior alveolar ridges, Apl... ORPHA:2839
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Joint stiffness... OMIM:252930
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Multicystic kidney dysplasia, High, narrow palate, ... ORPHA:3015
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Delayed skeletal maturation, Delayed eruption of teeth, Small placenta, Postnatal g... ORPHA:73272
Basilicata-Akhtar Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Anteverted nares, Tented upper lip vermilio... OMIM:301032
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Medium chain dicarboxyl... OMIM:201450
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Hypoplastic nasal bridge, Long philtrum, Postnatal growth retardation, Intrauterine growth retard... OMIM:620510
Congenital Tufting Enteropathy
Cholestatic liver disease, Choanal atresia, Abnormal large intestinal mucosa morphology, Villous ... ORPHA:92050
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2050
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, U... OMIM:253220
Cerebrofacioarticular Syndrome
Wide nasal bridge, Osteopenia, Renal hypoplasia, Anal stenosis, Caudal appendage, Tracheomalacia,... ORPHA:314679
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydro... ORPHA:1458
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Hypoplasia of the ... ORPHA:798
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Abnormality of the ... ORPHA:1926
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Anal atresia, Polycystic kidney dysplasia, Cone-shaped epiphysis, Th... OMIM:613091
Meckel Syndrome, Type 8
Depressed nasal ridge, Narrow chest, Occipital encephalocele, Cleft upper lip, Encephalocele, Pol... OMIM:613885
Charge Syndrome
Lymphopenia, Postnatal growth retardation, Cryptorchidism, Micropenis, Radial head subluxation, A... OMIM:214800
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Postnatal growth retardation, Intra... ORPHA:397590
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Intrauterine growth retar... ORPHA:1323
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Microcephaly, Joint contracture, Cerebral edema, Growth delay OMIM:614462
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... ORPHA:373
Wolf-Hirschhorn Syndrome
Cryptorchidism, Agenesis of corpus callosum, Radioulnar synostosis, Short hallux, Hypospadias, Hi... OMIM:194190
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Downturned corners of mouth, Delayed skeletal ma... OMIM:616817
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ... ORPHA:429
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Pulmonary hypoplasia, Long philtrum, Anteverted nares, Bell-sh... OMIM:608149
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Urinary incontinence, Short distal phalanx of finger, Cleft lip, Sandal gap, D... OMIM:617927
Monosomy 18Q
Open mouth, Arachnodactyly, High palate, Downturned corners of mouth, Delayed skeletal maturation... ORPHA:1600
Kilquist Syndrome
Choanal atresia, Pectus carinatum, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, 2... OMIM:619080
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Hypophosphatasia, Infantile
Unossified vertebral bodies, Vertebral clefting, Disproportionate short-limb short stature, Incre... OMIM:241500
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Pancytopenia, Cryptorchidism, Dislocated radial he... OMIM:210600
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Cryptorchidism, Bifid sacrum... ORPHA:1756
Distal Deletion 10P
Wide nasal bridge, Intrauterine growth retardation, Joint stiffness, Cryptorchidism, Polycystic o... ORPHA:1580
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, Proportio... OMIM:609654
Opsismodysplasia
Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Ante... OMIM:258480
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Short neck, Hepatomegaly, Osteopenia, Short 1st m... OMIM:620076
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Slender finger, Preaxial hand polydactyly, Anteverted nares, Microcephaly, Progr... OMIM:610536
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Holt-Oram Syndrome
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... ORPHA:392
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Underdeveloped nasal alae, Abnormal lung lobation, Oligohydramnios, Decrease... OMIM:263210
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irre... ORPHA:263463
Fryns Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Anal atres... ORPHA:2059
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Dis... ORPHA:1856
Fetal Alcohol Syndrome
Intrauterine growth retardation, Anteverted nares, Joint stiffness, Vertebral segmentation defect... ORPHA:1915
Acrofacial Dysostosis, Catania Type
Cerebral cortical atrophy, Carious teeth, Intrauterine growth retardation, Prominent nose, Crypto... OMIM:101805
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ... OMIM:619355
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Cryptorchidism, Agenesis of corpus callosum, Short neck... OMIM:229850
Kagami-Ogata Syndrome
Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Postnatal... ORPHA:254519
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Abnormal sacral segmentation, Oral-pharyngeal dysphagia,... ORPHA:480907
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hepa... ORPHA:247585
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Aplastic anemia, Absent thumb, Abnormal ... OMIM:300514
Stuve-Wiedemann Syndrome 1
Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Metaphyseal rarefaction, Bow... OMIM:601559
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities