Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
goosecoid homeobox
Synonyms:
goosecoid

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 Gsc 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 Gsc by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, Conductive hearing impairment, Atresia of the external auditory canal, Flexion cont... OMIM:602471

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Accessory oral frenulum, Large earlobe, Absent tragus, Overfolded h... ORPHA:79113
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... ORPHA:3236
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Broad nasal tip, Conductive hearing impairment, Atresia of t... OMIM:239800
Femoral-Facial Syndrome
Hip dysplasia, Scoliosis, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Abnormality of the middle ear ossicles, Conductive hearing impairme... ORPHA:2549
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Johnson Neuroectodermal Syndrome
Carious teeth, Bulbous nose, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:2316
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft lip, Ora... OMIM:141400
Lambotte Syndrome
Convex nasal ridge, Narrow mouth, Macrotia, Atresia of the external auditory canal, Retrognathia OMIM:245552
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Otofaciocervical Syndrome
Abnormality of the antihelix, Scapular winging, Macrotia, Conductive hearing impairment, Atresia ... ORPHA:2792
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Conductive hearing impairment, Atresia of the external auditory ... OMIM:147770
Acrootoocular Syndrome
Small thenar eminence, Delayed eruption of teeth, Choking episodes, Small hypothenar eminence, Ab... ORPHA:2980
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Nager Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Abnormal palate morpho... ORPHA:245
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:2213
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal... OMIM:264475
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Un... OMIM:173800
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Overfolded helix, Conductive hearing impairment, Atresia of the ext... OMIM:610536
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, A... OMIM:613808
Verloove Vanhorick-Brubakk Syndrome
Atresia of the external auditory canal, Non-midline cleft lip, Low-set ears, Aplasia/Hypoplasia o... ORPHA:3429
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteverted nares, Conductive hearing impairment, Low-set, posteriorly ro... ORPHA:1488
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Choanal atresia, Low-set e... OMIM:613309
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Wide nasal bridge, Stenosis of the exte... ORPHA:1513
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Smith-Magenis Syndrome
Mandibular prognathia, Morphological abnormality of the middle ear, Abnormality of the larynx, Ab... OMIM:182290
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality... ORPHA:2501
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneu... ORPHA:99772
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Nasal congestion, Recurrent otitis media, Cough, Absent outer... OMIM:616037
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly, Ste... OMIM:608257
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Mandibular prognathia, Clavicula... ORPHA:2790
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Low-set, posteriorly rotated ears, Wide mouth, Wide nasal ... ORPHA:1703
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Chronic sinusitis, Anomalous p... ORPHA:244
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, Conductive hearing impairment, Atresia of the external auditory canal, Flexion cont... OMIM:602471
Van Maldergem Syndrome 1
Wide anterior fontanel, Downturned corners of mouth, Conductive hearing impairment, Atresia of th... OMIM:601390
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Van Maldergem Syndrome 2
Wide anterior fontanel, Downturned corners of mouth, Conductive hearing impairment, Atresia of th... OMIM:615546
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Kyphosis, Rib fus... ORPHA:64755
Kbg Syndrome
Long philtrum, Oligodontia, Underdeveloped nasal alae, Macrotia, Thoracic kyphosis, Rib fusion, R... OMIM:148050
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Crouzon Syndrome
Abnormal nasopharynx morphology, Dental crowding, Conductive hearing impairment, Mandibular progn... OMIM:123500
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral... OMIM:608728
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, Short digit, Microgn... OMIM:268310
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhiz... OMIM:608940
Hypochondroplasia
Limited elbow extension, Lumbar hyperlordosis, Short long bone, Flared metaphysis, Genu varum, Br... OMIM:146000
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairment, Craniofac... ORPHA:2789
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Carious teeth, Delayed eru... OMIM:265800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal, Hypodontia, Selective toot... OMIM:106260
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Abnormality of the ribs, Upper limb undergrowth, Short metatarsal, Platyspondyly, Hy... ORPHA:93351
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Broad thumb, Narrow mouth, Pectus carinatum, Broad hallux phala... ORPHA:261295
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Vertebral segmentation defect, Hemivertebrae, Vertebral fusion, Abnorma... OMIM:613686
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Choanal stenosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial ... OMIM:122860
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Mandibular prog... OMIM:223800
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Cardiospondylocarpofacial Syndrome
Long philtrum, Tarsal synostosis, Anteverted nares, Conductive hearing impairment, Recurrent otit... OMIM:157800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Barber-Say Syndrome
Delayed eruption of teeth, Bulbous nose, Atresia of the external auditory canal, Wide mouth, Abno... ORPHA:1231
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media, Abno... OMIM:221320
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... ORPHA:2673
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal, Hyposmia OMIM:607842
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Bell-shaped thorax, Limb undergrowth... ORPHA:1803
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Macrotia, Conductive hearing impairment, Choanal ste... OMIM:601808
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the lo... ORPHA:2097
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Metaphyseal cupping of metacarpals... OMIM:250460
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Macrotia, Mandibular prognathia, Cupped ear, Hypoplasia of the maxilla ORPHA:93945
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irr... OMIM:601560
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Nasal polyp... OMIM:244400
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Conductive hearing impairment, Hy... OMIM:136760
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Exostosis of the e... OMIM:265000
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Bowing of the lo... ORPHA:2631
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el... ORPHA:429
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Protruding ear, ... OMIM:618737
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal po... OMIM:242680
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Hemivertebrae, Vert... OMIM:122600
Lipoid Proteinosis
Tongue nodules, Dysphagia, Nasal polyposis, Microglossia, Abnormal oral mucosa morphology, Abnorm... ORPHA:530
Metatropic Dysplasia
Scoliosis, Platyspondyly, Enlarged joints, Anisospondyly, Long coccyx, Narrow chest, Flared femor... OMIM:156530
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Lujan-Fryns Syndrome
Camptodactyly of finger, Short philtrum, Dental crowding, Pectus excavatum, Abnormality of the de... ORPHA:776
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Abnormality of the ribs, Abnormal clavicle morphology, Sc... ORPHA:628
Autosomal Recessive Multiple Pterygium Syndrome
Arthrogryposis multiplex congenita, Abnormal sternum morphology, Oral cleft, Skeletal muscle atro... ORPHA:2990
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... OMIM:184460
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Pectus carinatum, Mandibular prognathia, Pectus excavatum, High palate, Arachnodact... OMIM:300676
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Depressed nasal ridge, Ulnar deviation of the ... ORPHA:1529
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Abnormality of the antihelix, Postaxial hand polydactyly, Toe synd... ORPHA:3082
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Absent tragus, Conductive hearing impairment, Atresia of the external audito... OMIM:603457
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Overfolded ... ORPHA:2759
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Promine... OMIM:607326
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Low-set, posteriorly rotated ears, H... ORPHA:2972
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choanal atresia, Mesoa... OMIM:146510
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal form of the... ORPHA:1354
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Platyspondyly, Short neck, Narrow chest, A... ORPHA:93267
Lateral Meningocele Syndrome
Wormian bones, Abnormality of the middle ear ossicles, Long philtrum, Dental crowding, Conductive... OMIM:130720
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Absent respiratory ciliary axoneme ra... OMIM:242670
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Bowing of the long bones,... ORPHA:1802
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Low-set ears, Retrognathi... ORPHA:2958
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... ORPHA:2145
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Bell-shaped t... OMIM:187760
Mycophenolate Mofetil Embryopathy
Anotia, Atresia of the external auditory canal, Tracheomalacia, Oral cleft, Hearing impairment, C... ORPHA:268249
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Mandibular prognathia, Sprenge... ORPHA:2180
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, Macrotia, Mandibular prognathia, Pectus ... ORPHA:3242
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Finger syndactyly, Abnormal form of the vertebr... ORPHA:2311
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Platyspondyly, Wide anterior fontanel, Narrow ... OMIM:618853
Pfeiffer Syndrome Type 2
Short nose, Atresia of the external auditory canal, Intestinal malrotation, Choanal atresia, Trac... ORPHA:93259
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, R... ORPHA:199306
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongu... OMIM:252100
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Mandibular prognathia, Short columella, Abnormality... ORPHA:1248
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Antecubital pte... ORPHA:93320
Hemifacial Microsomia
Anotia, Hypoplasia of facial musculature, Unilateral external ear deformity, Branchial anomaly, C... OMIM:164210
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubi... OMIM:151210
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, High, narrow palate, Micrognathia, Elbow flexion contracture, In... ORPHA:536516
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, Choanal st... OMIM:600920
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Trismus, Abnormal hip bone ... ORPHA:916
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Conductive hearing impairment, Low-set, posteriorl... ORPHA:1307
Aarskog-Scott Syndrome
Oral cleft, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Pectus excavatum, External... ORPHA:915
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Thora... OMIM:602271
Auriculocondylar Syndrome 2
Apnea, Short mandibular rami, Narrow mouth, Dental crowding, Overfolding of the superior helices,... OMIM:614669
Kyphomelic Dysplasia
Radial bowing, Anterior rib cupping, Lateral clavicle hook, Short femur, Platyspondyly, Micrognat... OMIM:211350
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal, Oligodontia of p... ORPHA:2010
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Horizontal sacr... OMIM:112350
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Short ribs, Narrow chest OMIM:211120
Acrofacial Dysostosis 1, Nager Type
Prominent nasal bridge, Laryngeal hypoplasia, Conductive hearing impairment, Atresia of the exter... OMIM:154400
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Death in infancy, Tracheom... ORPHA:1393
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Limited elbow extension, Dislocated radial head, Scoliosis, Platyspondyly, Abnorma... ORPHA:93359
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Pectus excavatum, Kyphosis, Abnormal hip... ORPHA:2522
Monosomy 9P
Anotia, Long philtrum, Abnormality of the antihelix, Narrow mouth, Anteverted nares, Short nose, ... ORPHA:261112
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Micrognathia, Vertebral fusion, Cleft palate, Supernumerary ribs, Prominent nose OMIM:221950
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Slender long bone, A... ORPHA:1486
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Low-set, posteriorly rotated ears, Atresia of the external auditory ... ORPHA:1770
Treacher Collins Syndrome 1
Narrow mouth, Conductive hearing impairment, Hypoplasia of the pharynx, Atresia of the external a... OMIM:154500
Robinow Syndrome
Dental crowding, Short distal phalanx of finger, Oral cleft, Triangular mouth, Micrognathia, Depr... ORPHA:97360
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Metaphyseal irregul... OMIM:618395
Fraser Syndrome 1
Underdeveloped nasal alae, Dental crowding, Choanal stenosis, Atresia of the external auditory ca... OMIM:219000
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis, Aspirin-induced asthma, Asthma OMIM:208550
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1509
Cleidocranial Dysplasia
Open bite, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Sleep apnea, Narrow c... ORPHA:1452
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Restrictive ventilatory defect, Short nose, Macrotia, 2-3 toe syndac... OMIM:218000
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Clinodactyly, Protruding ear, High palate, Prominent nasal bridge, Taper... ORPHA:85279
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, Posteriorly rotat... OMIM:224410
Eosinophilic Granulomatosis With Polyangiitis
Pulmonary infiltrates, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Dysphagia, Re... ORPHA:183
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormality of the philtrum, Microretrognathia, Chronic otitis medi... ORPHA:276422
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal stenosis, Overfolded helix, Choanal atresia, Short distal p... OMIM:602535
Pai Syndrome
Nasal polyposis, Midline defect of the nose, Cleft palate, Abnormal oral frenulum morphology, Bif... ORPHA:1993
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Short nose, Atresia of the external auditory canal, Wide mouth, Smooth p... ORPHA:261236
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Pyloric stenosis OMIM:133705
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Supernumerary ribs, Dysphagia, Episodic tachypnea, Thick nasal a... ORPHA:163961
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Hemivertebrae, Abnormal rib ca... OMIM:608406
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, De... OMIM:228520
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Deep philtrum, Pectus excavatum, In... ORPHA:77300
Melnick-Needles Syndrome
Scoliosis, Delayed eruption of teeth, Abnormality of the ribs, Short thorax, Anisospondyly, Narro... ORPHA:2484
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Anteverted nares, Wide nasal bridge, Cleft palate, Abnormalit... ORPHA:1797
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Conductive hearing impairment, Abnormal palate morphology, Choanal atresia, R... ORPHA:93262
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone... OMIM:614524
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Craniosynostosis, Long philtrum, Finger sy... ORPHA:178303
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Camptodactyly, Abnormality of the pinna, Cleft palate, High pala... OMIM:246560
Schinzel-Giedion Syndrome
Wormian bones, Choanal stenosis, Camptodactyly, Abnormality of the stapes, Abnormal thorax morpho... ORPHA:798
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomeli... OMIM:610319
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Narrow mouth, ... ORPHA:2412
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Cerebrofaciothoracic Dysplasia
Short nose, Narrow chest, Low-set, posteriorly rotated ears, Sprengel anomaly, Rib fusion, Wide m... ORPHA:1394
Kapur-Toriello Syndrome
Bulbous nose, Atresia of the external auditory canal, Intestinal malrotation, Low-set ears, Poste... ORPHA:2328
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Craniosynostosis, Bifid ribs, Postaxial hand polydactyly, Overlapping toe, Narrow chest, Short no... OMIM:213980
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Micrognathia, Preaxial hand ... OMIM:134780
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bulbous nose, Tapered toe, Macrotia, Rib fusion, Sensorineural hearing impairment, Asthma, Celiac... ORPHA:544488
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Pectus carinatum, Beaded ribs, Pectus excavatum, Kyphosi... OMIM:259440
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Bowing of ... OMIM:187600
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Carious teeth, Abnormal dental enamel morphology, Abnormality of the ribs... ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Thin vermilion border, Underdeveloped nasal alae, Atresia of the externa... ORPHA:920
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Scoliosis, Hypoplastic sacrum, Carpal bone hypoplasia, Mandibular progna... OMIM:304950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Broad thumb, Open mouth, Dental crowding, Abnormally folded helix, Deep philtrum,... OMIM:309520
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Anotia, Camptodactyly of finger, Narrow mouth, Atresia of the external audito... ORPHA:2554
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Abnorm... ORPHA:2616
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Bulbous nose, Clinodac... OMIM:170390
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Choanal stenosis, Coronal craniosynostosis, Micrognathia, Malar flattening... OMIM:241310
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Tented upper lip... ORPHA:2662
Coffin-Lowry Syndrome
Sleep apnea, Narrow palate, Open mouth, Short distal phalanx of finger, Sensorineural hearing imp... ORPHA:192
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Acromesomelia, B... ORPHA:968
Mucopolysaccharidosis, Type Iva
Scoliosis, Genu valgum, Carious teeth, Prominent sternum, Hyperlordosis, Constricted iliac wing, ... OMIM:253000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long b... ORPHA:440354
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Nasal polyposis, Median cleft lip OMIM:155145
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Anteverted nares, Flexion contracture, Bell-shaped thorax, Long f... OMIM:608149
Coxoauricular Syndrome
Hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:1508
Trisomy 8P
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, Aplasia/Hypoplasia of ... ORPHA:264450
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Underdeveloped nasal alae, Atresia of the external auditory canal, P... ORPHA:264200
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Stippled calcification proximal humeral epiphyses, Rhizomelia, Irregular vertebral end... OMIM:222765
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Carious teeth... OMIM:604922
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Martsolf Syndrome 1
Short phalanx of finger, Slender ulna, Metatarsus adductus, Broad fingertip, High palate, Microgn... OMIM:212720
Three M Syndrome 2
Prominent calcaneus, Delayed eruption of teeth, Short 5th finger, Long philtrum, Scapular winging... OMIM:612921
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Hand polydactyly, Abnormal vertebral morphology, Rib fusion, Microgn... ORPHA:261197
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Narrow mouth, Underdeveloped nasal alae, Choanal stenosis, Aphalangy... OMIM:218600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short philtrum, Thin vermilion border, Short middle phalanx of the 2nd finger... OMIM:156510
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Anterior rounding of ... OMIM:260660
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Wide anterior fontanel, Obtuse angle of mandible, Abnormal diaphysis m... ORPHA:85184
Stickler Syndrome Type 1
Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormality of epiphysi... ORPHA:90653
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Thoracic hypoplasia, Irregu... ORPHA:168549
Osteogenesis Imperfecta, Type V
Wormian bones, Platyspondyly, Biconcave vertebral bodies, Anterior radial head dislocation, Denti... OMIM:610967
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm, Micromelia ORPHA:168555
Craniometadiaphyseal Dysplasia
Scoliosis, Cubitus valgus, Wormian bones, Genu valgum, Carious teeth, Broad ribs, Wide anterior f... OMIM:269300
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Macrotia, Hypoplasia of the maxilla ORPHA:93950
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, Low-set, posteriorly rotated ears, Camptodactyly, Smooth philtrum, Wide na... OMIM:611209
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Flexion contracture of finger, Underdeveloped nasal alae, Dental... OMIM:618175
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Carious teeth, Prominent sternum, Hyperlordosis, Constricted iliac wing, ... OMIM:253010
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Narrow chest, Square pelvis bone, Bowing of ... ORPHA:166272
Fraser Syndrome
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Death in infa... ORPHA:2052
Crouzon Disease
Convex nasal ridge, Narrow palate, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:207
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Wormian bones, Thin vermilion border, Slender long bone, Narrow nose, ... OMIM:601812
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Microretrognathia, Abnormality of the pinna, Thick vermilion border, Posteriorly r... ORPHA:228396
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Wide anterior fontanel, Poorly ossified cervical vertebrae, Thora... OMIM:114290
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Hypoplastic scapula... ORPHA:93333
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na... OMIM:210720
Cog1-Cdg
Long philtrum, Narrow mouth, Posterior rib gap, Low-set, posteriorly rotated ears, Pierre-Robin s... ORPHA:263508
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Metaphyseal chondrodysplasia, Short nose, Metaphyseal cupping of metacarpals, Dea... ORPHA:163966
Meier-Gorlin Syndrome 1
Narrow mouth, Thick lower lip vermilion, Atresia of the external auditory canal, Camptodactyly, F... OMIM:224690
Saethre-Chotzen Syndrome
Open bite, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate, Narrow int... ORPHA:794
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Atelosteogenesis Type Iii
Elbow dislocation, Club-shaped distal femur, Absent radius, Micrognathia, Coronal cleft vertebrae... ORPHA:56305
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae OMIM:602196
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Lumbar hyperlordos... OMIM:169550
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Esophagitis, Atresia of the external auditory canal, Recurrent otitis ... OMIM:612562
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Wormian bones, Platyspondyly, Prominent sternum, Short neck, Flared iliac w... OMIM:300232
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Na... OMIM:250420
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic pelvis, Hypoplastic scapulae, Bilateral talipes equinovarus, Absent thumb, Short clav... OMIM:618022
Antley-Bixler Syndrome
Camptodactyly of finger, Long philtrum, Craniosynostosis, Narrow mouth, Narrow chest, Anteverted ... ORPHA:83
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Cupped ear,... OMIM:167730
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Metaphyseal irregularity, Central vertebral hypoplasia, Bell... OMIM:602557
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal, Cleft palate OMIM:614900
Achondrogenesis Type 1B
Long philtrum, Short thorax, Short nose, Narrow chest, Aplasia/Hypoplasia of the lungs, Short foo... ORPHA:93298
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Facial hypotonia, Macrotia, Mandibular prognathia, Diastema, Lower limb hypertonia, Smooth philtr... OMIM:300534
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Respiratory failure re... ORPHA:79345
Aicardi Syndrome
Hip dysplasia, Scoliosis, Prominence of the premaxilla, Rib fusion, Small hand, Block vertebrae, ... ORPHA:50
Benign Schwannoma
Vertigo, Nasal polyposis, Abnormality of the larynx, Abnormal esophagus morphology, Abnormal paro... ORPHA:252164
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Bulbous nose, Elbow dis... ORPHA:2769
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of the ribs, Abnormality of pelvic girdle bone morphology ORPHA:1506
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep phi... OMIM:137550
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Metaphyseal striations, Lo... OMIM:608154
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormali... ORPHA:2050
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Broad ribs, Narrow chest, Wide anterior fontane... ORPHA:2021
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elb... OMIM:171480
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Scoliosis, Rudimentary fibula, Hypoplasia of the radius, Short neck... ORPHA:958
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormality of the ribs, Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture, Long phal... OMIM:305620
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Downturned corners of mouth, Split hand, Abnormal thorax morphology,... ORPHA:280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Hypopl... OMIM:300863
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, Broad thumb, Bulbous nose, Overfolded helix, Skeletal muscle atrophy, High... ORPHA:481152
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle apl... OMIM:602483
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Craniofacial hyperostosis, Pectus carinatum, Abnormal palate mo... ORPHA:3068
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Subaortic Stenosis--Short Stature Syndrome
Short toe, Short phalanx of finger, Broad toe, Narrow mouth, Shield chest, Anteverted nares, Pect... OMIM:271960
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Micrognathia, Hypoplastic ... OMIM:224300
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the nose, Nasal polyposis, Esophageal neoplasm, Abnormality o... ORPHA:2869
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bones, Short ... ORPHA:3258
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Genu recurvatum, Emphysema, Low-s... OMIM:613804
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Narrow palate, Camptodactyly, Metatarsus adductus, High palate, Supernumerary r... OMIM:182212
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory insufficienc... OMIM:601559
Zttk Syndrome
Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, High palate, ... OMIM:617140
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Bulging of the costochond... OMIM:600081
Meier-Gorlin Syndrome 3
Narrow mouth, Narrow chest, Bronchomalacia, Micrognathia, Hypoplasia of the maxilla, Short thorax... OMIM:613803
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Micrognathia, Adducted thumb, Aplasia... ORPHA:3320
Eiken Syndrome
Multiple impacted teeth, Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Shor... OMIM:600002
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Choanal stenosi... OMIM:236500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Congenital muscula... ORPHA:2215
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Depressed nasal tip, Recurrent upper respiratory tract ... ORPHA:2399
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Narrow mouth, Short nose, Camptodactyly, Smooth philtrum, Abnorm... OMIM:608156
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr... OMIM:617925
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Beaded ribs, Tibial bowing, Crumpled long bones, ... OMIM:166210
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Posteriorly rotated ear... OMIM:273050
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Micrognathia, Aplasia/Hypoplasia o... ORPHA:1147
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, D... OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, Bowing of the legs, Spinal... OMIM:307800
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Wide anterior fontanel, Narrow chest, Abnormality of the isc... ORPHA:2347
Microcephaly-Micromelia Syndrome
Oligodactyly, Convex nasal ridge, Humeroradial synostosis, Craniosynostosis, Narrow mouth, Narrow... OMIM:251230
Microcephaly-Capillary Malformation Syndrome
Short nose, Short distal phalanx of finger, Low-set ears, Hearing impairment, Clinodactyly, Right... OMIM:614261
Distal Xq28 Microduplication Syndrome
Absent antihelix, Open mouth, Dental crowding, Recurrent upper respiratory tract infections, Epis... ORPHA:293939
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Choanal atresia, Cleft palate, Retrognathia, Micrognathia, Microtia, Hypoplasia... OMIM:616462
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Hypoplastic scapulae, Beaded r... OMIM:200600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple rib fractures, Micrognathia, Short femur, Fle... OMIM:616897
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Respiratory insufficiency, Fla... OMIM:616300
Holt-Oram Syndrome
Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morphology, Finger clinodac... OMIM:142900
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow dislocation,... ORPHA:90652
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Abnormality of the vertebral column, Mandibular prognat... OMIM:123000
Axenfeld-Rieger Syndrome
Anal stenosis, Everted lower lip vermilion, Hypodontia, Wide nasal bridge, Hearing impairment, De... ORPHA:782
Dysostosis, Stanescu Type
Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened long bone co... ORPHA:1798
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary c... ORPHA:93324
Achondrogenesis Type 1A
Long philtrum, Short thorax, Short nose, Narrow chest, Aplasia/Hypoplasia of the lungs, Multiple ... ORPHA:93299
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Sensorineural... OMIM:201000
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Non-midline cleft lip, Hypodontia, Supernume... ORPHA:199302
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Recurrent otitis media, Hypodontia... OMIM:129400
Mucopolysaccharidosis Type 3
Sensorineural hearing impairment, Abnormality of the ribs, Otitis media, Hip dysplasia, Genu valg... ORPHA:581
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:1788
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Autosomal Dominant Omodysplasia
Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Patellar disloc... ORPHA:93328
Shprintzen-Goldberg Syndrome
Craniosynostosis, Narrow chest, Elbow dislocation, Abnormality of the metaphysis, High, narrow pa... ORPHA:2462
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
Holt-Oram Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Scoliosis, Broad thumb, Radioulnar synosto... ORPHA:392
Jackson-Weiss Syndrome
Convex nasal ridge, Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia... ORPHA:1540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital muscular dystrophy, Atresia of the external auditory canal, Congenital contracture, Lo... OMIM:236670
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Renal Dysplasia-Limb Defects Syndrome
Thin vermilion border, Narrow mouth, Phocomelia, High palate, Micrognathia, Depressed nasal bridg... OMIM:266910
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, C... OMIM:277440
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Downturned corners of mouth, Split hand, Oral cleft, Metatarsus adduc... OMIM:194190
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Mosaic Trisomy 8
Camptodactyly of finger, Abnormality of the antihelix, Arthrogryposis multiplex congenita, Broad ... ORPHA:96061
Campomelic Dysplasia
Scoliosis, Short neck, Poorly ossified cervical vertebrae, Narrow chest, Hypoplastic inferior ili... ORPHA:140
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Intervertebral disc d... ORPHA:93311
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners... ORPHA:2409
Aarskog-Scott Syndrome
Short nose, Anteverted nares, Hypoplasia of the maxilla, Short palm, Curved linear dimple below t... OMIM:305400
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Biconcave vertebral bodies, Bowing of the long bones, Thin ribs, Micrognathia, Fem... OMIM:617952
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Atresia of the external aud... ORPHA:79500
Cohen Syndrome
Open mouth, Aplasia/Hypoplasia of the tongue, Sandal gap, Slender toe, Sensorineural hearing impa... ORPHA:193
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Short metacar... OMIM:617604
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Rib fusion, Hemivertebrae, Block vertebrae, Proximal pla... OMIM:304050
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Abnorm... ORPHA:2725
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Sandal gap, Tibial ... OMIM:108721
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Diastema, Postaxial polydactyly, Long thorax, Conical tooth, Overhan... OMIM:619142
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest, Mandibular... ORPHA:96334
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Short neck, Vertebral segment... OMIM:272460
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
Cohen Syndrome
Prominent nasal bridge, Genu valgum, Cubitus valgus, Short philtrum, Short metatarsal, Facial hyp... OMIM:216550
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Short neck, Barrel-shaped c... ORPHA:94068
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Respiratory distress, Narrow ches... OMIM:617895
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Microg... OMIM:601809
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Convex nasal ridge, Delayed closure of th... OMIM:614008
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... OMIM:164745
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Rachitic rosary, Bowing of the legs, Vertebral hyperostosis,... ORPHA:89936
Vertebral Hypersegmentation And Orofacial Anomalies
Thickened helices, Scapular winging, Supernumerary ribs, Pectus excavatum, Unilateral cleft lip, ... OMIM:619122
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Wide anterior fontanel, Narrow chest, Split hand, Hypoplastic ilia, S... ORPHA:1860
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Mandibular osteomyelitis, Fractures o... OMIM:166600
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Th... ORPHA:457395
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Craniosynostosis, Broad thumb, Dental crowding, Mandibular prognathia,... OMIM:101120
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Mandibular prognathia, Broad clavicles, Wide nasal bridge, Cor... OMIM:269500
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Scoliosis, Narrow chest, Persistent open anterior fontanelle, S... OMIM:119600
Pycnodysostosis
Abnormal clavicle morphology, Wormian bones, Delayed eruption of teeth, Hyperlordosis, Abnormalit... ORPHA:763
Craniofaciofrontodigital Syndrome
Cubitus valgus, Long philtrum, Broad ribs, Short nose, Hypoplastic pelvis, Palmoplantar cutis lax... OMIM:114620
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Sprengel anomaly, Cleft upper lip, Cleft palate, Abnormality of th... OMIM:601076
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Choanal stenosis, Mandibular... OMIM:259775
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Metaphyseal irregularity, Narrow chest, Short diaphyses, Rhizomelia, H... OMIM:245190
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Opsismodysplasia
Anterior rib cupping, Squared iliac bones, Scoliosis, Narrow chest, Rhizomelia, Metaphyseal cuppi... OMIM:258480
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Low-set ears, Thin ribs, Vertebral fusion, ... OMIM:312150
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hip dysplasia, Hyperplasia of the maxilla, Contractures of the joints of the lower limbs, Recurre... ORPHA:513456
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Pontine Tegmental Cap Dysplasia
Dysphagia, Rib fusion, Ankle clonus, Facial palsy, Sensorineural hearing impairment, Aspiration, ... OMIM:614688
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Overfolded helix, Conductive hearing... ORPHA:2876
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Abnormality of the antihelix, Bulbous nose, Short nose, Excessive salivation, Mandi... ORPHA:261144
Apert Syndrome
Delayed eruption of teeth, Convex nasal ridge, Broad thumb, Toe syndactyly, Narrow palate, Finger... ORPHA:87
Frontorhiny
Camptodactyly of finger, Midline nasal groove, Low-set, posteriorly rotated ears, Hypoplastic fro... ORPHA:391474
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Choanal stenosis, Finger syndactyly, Dental cro... OMIM:101600
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Narrow chest, Bowing of the long bones, Abnormality of... ORPHA:436
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Abnormality of the larynx, Aplasia/Hypoplasia involving the pelvis, Oral cleft, Ana... ORPHA:3301
Ellis-Van Creveld Syndrome
Genu valgum, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Narrow c... OMIM:225500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Schneckenbecken Dysplasia
Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Abnormal form of the vertebral... ORPHA:3144
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Pectus excavatum, K... OMIM:616294
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Anal stenosis, Mandibular prognathia, Everted lower lip vermilion, Hypodontia, Wi... OMIM:601499
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Abnormality of pelvic girdle bone morphology, Abnormality of the vertebral colum... OMIM:607634
Chromosome 1P36 Deletion Syndrome
Delayed closure of the anterior fontanelle, Asymmetry of the ears, Camptodactyly, Oral cleft, Met... OMIM:607872
Cystic Fibrosis
Clubbing of fingers, Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Steatorrhea, Recurrent... OMIM:219700
Pallister-Hall Syndrome
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... ORPHA:672
Trisomy 13
Long philtrum, Abnormality of the antihelix, Postaxial hand polydactyly, Narrow chest, High, narr... ORPHA:3378
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Prominent sternum, Overlapping toe,... ORPHA:254528
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Poorly ossified vertebrae... ORPHA:3003
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Cornelia De Lange Syndrome
Thin vermilion border, Downturned corners of mouth, Atresia of the external auditory canal, Intes... ORPHA:199
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Hallermann-Streiff Syndrome
Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasal alae, Nat... OMIM:234100
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Wide anterior fontanel, Kyphosis, Tibial ... OMIM:610915
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Auditory Neuropathy And Optic Atrophy
Hearing impairment, Pallor OMIM:617717
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Pallor ORPHA:71518
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Thin ribs, Craniosynostosis, Brachydactyly OMIM:618265
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Narrow mouth, M... ORPHA:261344
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... OMIM:309350
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Pectus excavatum, Hearing impairment, Distal amyotrophy, High palate, Micr... OMIM:617675
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Mucopolysaccharidosis Type 6
Genu valgum, Macroglossia, Broad ribs, Recurrent upper respiratory tract infections, Chronic otit... ORPHA:583
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Radio-Renal Syndrome
Convex nasal ridge, Hypoplasia of the radius, Dyspnea, Respiratory distress, Downturned corners o... ORPHA:3015
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Dermatitis, Atopic
Allergic rhinitis, Facial erythema, Asthma, Pallor, Dry skin OMIM:603165
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Overfolded helix, Dental crowding, Camptodactyly, Nat... OMIM:300373
Marshall Syndrome
Genu valgum, Long philtrum, Short nose, Thick lower lip vermilion, Anteverted nares, Hypoplastic ... ORPHA:560
3Mc Syndrome 2
Prominence of the premaxilla, Craniosynostosis, Diastasis recti, Radioulnar synostosis, Downturne... OMIM:265050
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Slender long bone, Thi... OMIM:244460
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Low-set ears, Thin ribs, Vertebral fusion, ... OMIM:253290
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Apnea, Craniosynostosis, Narrow chest, Abnormality of epiphysis morpho... ORPHA:667
Cerebrocostomandibular Syndrome
Anomalous tracheal cartilage, Congenital hip dislocation, High palate, Elbow flexion contracture,... OMIM:117650
Bruck Syndrome 2
Wormian bones, Platyspondyly, Pectus carinatum, Pterygium, Knee flexion contracture, Talipes equi... OMIM:609220
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion... OMIM:118100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxia... OMIM:613091
Cat-Eye Syndrome
Hip dysplasia, Abnormality of the ribs ORPHA:195
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Scoliosis, Short neck, Abnormal form of the vertebral bodies, Vertebral ... ORPHA:1834
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Underdeveloped nasal alae, Conductiv... ORPHA:306542
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Ankle swelling, Osteolysis invol... OMIM:166300
Primary Lateral Sclerosis, Juvenile
Dysphagia, Spasticity of facial muscles, Pallor, Difficulty in tongue movements OMIM:606353
Aspergillosis
Abnormality of long bone morphology, Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphol... ORPHA:1163
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Bulging of the costochond... OMIM:241530
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Synost... ORPHA:321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Anteverted nares, Pneumonia, Low-set ears, Protruding t... OMIM:242860
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Ovoid vertebral bodies, Metatarsus adductus... OMIM:271640
Cutis Laxa, Autosomal Recessive, Type Ib
Convex nasal ridge, Prominence of the premaxilla, Bulbous nose, Pectus excavatum, Emphysema, Pulm... OMIM:614437
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow chest, Mic... OMIM:200980
Achondrogenesis, Type Ii
Broad long bones, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Absent vertebral body mine... OMIM:200610
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Apnea, Posteriorly rotated ears, Low-set ears, Abnormality of the ribs OMIM:300864
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Cartilage-Hair Hypoplasia
Scoliosis, Limited elbow extension, Hypoplasia of the odontoid process, Metaphyseal cupping, Lumb... OMIM:250250
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Downturned corners of mouth, Hypoplasia of the maxilla, Depressed nasal br... ORPHA:500150
Spastic Paraplegia 16, X-Linked
Lower limb amyotrophy, Facial hypotonia, Lower limb muscle weakness, Hypoplasia of the maxilla OMIM:300266
Cerebrofacioarticular Syndrome
Narrow mouth, Anal stenosis, Conductive hearing impairment, Camptodactyly, Bilateral choanal atre... ORPHA:314679
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypoplasia of tee... ORPHA:50814
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Clinodactyly ... ORPHA:2475
Lenz-Majewski Hyperostotic Dwarfism
Choanal stenosis, Cutis laxa, Choanal atresia, Sensorineural hearing impairment, Micrognathia, El... OMIM:151050
Geroderma Osteodysplasticum
Wormian bones, Platyspondyly, Biconcave vertebral b