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Gene: Gsc MGI:95841

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
High palate, Narrow mouth, Atresia of the external auditory canal, Conductive hearing impairment,... 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
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypop... ORPHA:3236
Braddock-Carey Syndrome 2
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ... OMIM:619981
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Hypertelorism, Microtia, Facial Clefting Syndrome
Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hearing impairment, Cl... OMIM:239800
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Lambotte Syndrome
Retrognathia, Narrow mouth, Atresia of the external auditory canal, Macrotia, Convex nasal ridge OMIM:245552
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ... OMIM:141400
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Otofaciocervical Syndrome
Abnormal antihelix morphology, Anteverted nares, High palate, Scapular winging, Atresia of the ex... ORPHA:2792
Acrootoocular Syndrome
Grayish enamel, Supernumerary tooth, High, narrow palate, Wide nasal base, Abnormal earlobe morph... ORPHA:2980
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Everted lower lip vermilion, Anosmia, Choanal atresia, Atresia of the ext... ORPHA:2316
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip... ORPHA:245
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Abnormality of the inner ear, Sensorineural hearing impai... ORPHA:2549
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Hypertelorism-Microtia-Facial Clefting Syndrome
Microtia, Bifid nasal tip, Median cleft palate, Atresia of the external auditory canal, Conductiv... ORPHA:2213
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Esophageal atresia, Anteverted nares, Microtia, Low-set ears, Choanal atresia, Atresi... OMIM:610536
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Poland Syndrome
Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Anteverted nares, Abnormality... ORPHA:1488
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Cl... OMIM:300946
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Congenital Disorder Of Glycosylation, Type Iig
Microtia, Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, Long p... OMIM:611209
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external auditory canal, A... ORPHA:1513
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Bowing of the long bones, Carious teeth... ORPHA:2501
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Bifid uvula, Long ph... OMIM:301022
Crouzon Syndrome
Deviated nasal septum, Dental crowding, Mandibular prognathia, High palate, Atresia of the extern... OMIM:123500
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Nasal polyposis, Skin ulcer, Chronic sinusitis OMIM:604571
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormal long bone morphology, Short toe, Abnormal pelvic girdle bone morphology OMIM:259270
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Sinusitis, Hearing impairment, Otitis media, Absent inner ... OMIM:606763
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microtia, Low-set ears, Choanal a... OMIM:613309
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Microtia, Ectopic anus, High p... ORPHA:1703
Deafness, X-Linked 7
Stenosis of the external auditory canal, Hearing impairment, Atresia of the external auditory can... OMIM:301018
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Camptodactyly, Atresia of the external auditory canal, C... OMIM:608257
Van Maldergem Syndrome 1
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, High palate, Camptodactyly, A... OMIM:601390
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, Low-set ears, High palate, Camptodactyly, Pre... OMIM:618393
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Facial diplegia, Death in... OMIM:122860
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal, Abno... OMIM:221320
Van Maldergem Syndrome 2
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Stenosis of the external audi... OMIM:615546
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft of the upper lip, Microtia, Low-set ears, Atresia of the external auditory cana... ORPHA:3429
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Nasal polyposis, Chronic rhinitis, Chronic sinusitis OMIM:617092
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Lateral Meningocele Syndrome
High, narrow palate, Craniofacial hyperostosis, Sensorineural hearing impairment, Dental crowding... ORPHA:2789
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormal pinna morphology, Abnormality of the philtrum, Low-set ears,... ORPHA:2673
Grant Syndrome
Joint dislocation, Narrow chest, Bowing of the long bones, Abnormal pelvic girdle bone morphology... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Recurrent otitis media, Nasal congestion, Nasal polyposis, Chronic sinu... OMIM:616037
Immunodeficiency 13
Recurrent sinusitis, Recurrent otitis media, Nasal polyposis, Recurrent upper respiratory tract i... OMIM:615518
20P12.3 Microdeletion Syndrome
Pectus carinatum, Microtia, Narrow mouth, Hypoplasia of the maxilla, Broad thumb, Malar flattenin... ORPHA:261295
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Narrow mouth, Atresia of the external auditory canal, Conductive hearing impairment,... OMIM:602471
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears, Glossoptosis, E... OMIM:616367
Barber-Say Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Hearing impairment, Atres... ORPHA:1231
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Chromosome 18Q Deletion Syndrome
Short philtrum, Sensorineural hearing impairment, Stenosis of the external auditory canal, Mandib... OMIM:601808
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dy... OMIM:614935
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Abnormal axonemal organization of res... OMIM:613808
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Retrognathia, Abnormal metacarpal morphology, Abnormal hip bone m... ORPHA:2631
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Bulbous nose, Cupped ear ORPHA:93945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatu... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Ulnar bowing, Flared metaphysis, Metaphyseal ... OMIM:602111
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia OMIM:607842
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Microtia, Pect... OMIM:268310
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Low-set ears, Abnormality of the dentition, High palate, Pectus ... ORPHA:776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Pectus carinatum, Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Anteverted ... OMIM:614701
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Frontonasal Dysplasia 1
Joint contracture of the hand, Widely-spaced maxillary central incisors, Radial deviation of fing... OMIM:136760
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Anteverted nares, Gingival overgrowth, High palate, Narrow mouth, Choanal atresia,... OMIM:123790
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Protruding ear, Bulbous nose,... OMIM:618737
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Bilateral choanal atresia, Conical tooth, Selective tooth agenesis, Atresia ... OMIM:106260
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Low-set ears, Abnormal number of incisors, Supernumerary ribs, Prominent nose, Fing... ORPHA:2958
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dy... OMIM:615444
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Hip dislocation... OMIM:265000
Craniofacial-Deafness-Hand Syndrome
Short nose, Aplasia/Hypoplasia involving the nose, Abnormality of the wrist, Sensorineural hearin... ORPHA:1529
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis OMIM:608647
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Narrow... ORPHA:3082
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Abnormality of the philtrum, Low-set ears, Ab... ORPHA:276422
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Mandibular prognathia, Anteverted nares, Low-set e... ORPHA:2180
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Oral-pharyngeal dysp... ORPHA:199306
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, Narrow chest... ORPHA:474
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Recurrent sinusitis, Craniosynostosis, Overlapping toe, Anteverted nares, Posta... OMIM:213980
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora... ORPHA:530
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ... OMIM:184460
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Depressed nasal ridge,... ORPHA:1248
16P13.11 Microdeletion Syndrome
Short nose, Sensorineural hearing impairment, Anteverted nares, Exaggerated cupid's bow, Low-set ... ORPHA:261236
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped... OMIM:211350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t... ORPHA:1770
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Pectus... ORPHA:949
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Clubbing, Nasal congestion, Chronic rhinitis, Nasal... ORPHA:244
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Narrow ch... OMIM:618853
Aarskog-Scott Syndrome
Abnormal pinna morphology, Everted lower lip vermilion, Pectus excavatum, Long philtrum, Low-set,... ORPHA:915
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Bosma Arhinia Microphthalmia Syndrome
Dental malocclusion, Abnormal pinna morphology, Absent tragus, High palate, Anosmia, Choanal atre... OMIM:603457
Pfeiffer Syndrome Type 2
Short nose, High palate, Low-set ears, Anal atresia, Choanal atresia, Atresia of the external aud... ORPHA:93259
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Aase-Smith Syndrome
Abnormal hip bone morphology, Scoliosis, Slender finger, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:916
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Hyperactivity, Head... OMIM:182290
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, S... ORPHA:3242
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bifid uvula, Broad philtrum, Choanal atresia, Atresia of the ... OMIM:620186
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anteverted nares, Microtia, Bilateral sensorineural hearing ... ORPHA:2306
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Tapered finger, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Prom... ORPHA:85279
Pallister-Hall Syndrome
Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Hip disloc... OMIM:146510
Orofaciodigital Syndrome Ii
Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,... OMIM:252100
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a... OMIM:607326
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Stenosis of the exter... OMIM:614669
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b... OMIM:112350
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Retrognathia, Clinodactyly of the 5th finger, Tapered toe, Sensorineural hearing impairment, Atte... ORPHA:544488
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Absent frontal sinuses, Anosmia, Nasal polyposis,... OMIM:244400
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Mandibular prognathia, Scoliosis, Hemivertebrae... ORPHA:377
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... ORPHA:2010
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilateral talipes equino... OMIM:618022
Craniosynostosis And Dental Anomalies
Chronic otitis media, Dental crowding, Clinodactyly, Narrow palate, Short phalanx of finger, Broa... OMIM:614188
Craniosynostosis, Herrmann-Opitz Type
Short nose, Craniosynostosis, Abnormal antihelix morphology, Finger syndactyly, Microtia, Split h... ORPHA:2145
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Orofacial cleft, Microtia, Tracheoesophageal fistula, Hearing im... ORPHA:268249
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Robinow Syndrome
Mixed hearing impairment, Broad alveolar ridges, Dental crowding, Bifid distal phalanx of the thu... ORPHA:97360
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... ORPHA:2990
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... ORPHA:440354
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Mandibular prognathia, Hyperlordo... ORPHA:2831
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Pyloric stenosis, Conductive h... ORPHA:261197
Monosomy 9P
Congenital diaphragmatic hernia, Short nose, Abnormal antihelix morphology, Anteverted nares, Mic... ORPHA:261112
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Abnormal pinna morphology, Low-set ears, Pectus excavatum, Depressed nasal ridge... ORPHA:77300
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Pyloric stenosis OMIM:133705
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Hearing abnormality... ORPHA:1452
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Hearing abnormality, Anteverted nares, Narrow mouth, Depressed nasal ... ORPHA:2412
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Sandal gap, Abnormal antihelix morphology, Finger syndactyly, Abnorm... ORPHA:178303
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Dentin... OMIM:259440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Disloc... OMIM:618395
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Low-set, posteriorly rotated ears, Abnormal metacarp... ORPHA:1307
Pai Syndrome
Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Cleft palate, Bif... ORPHA:1993
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Platyspondyly, Joint dislocation, Sh... ORPHA:582
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Schneckenbecken Dysplasia
Lateral clavicle hook, Platyspondyly, Narrow chest, Snail-like ilia, Short long bone, Flat acetab... OMIM:269250
Kbg Syndrome
Radial deviation of finger, Ulnar deviation of the 2nd finger, Syndactyly, Cervical ribs, Long ph... OMIM:148050
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187601
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Coxa valga, Cervi... OMIM:253000
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Treacher Collins Syndrome 1
Cleft soft palate, Microtia, Narrow mouth, Choanal atresia, Atresia of the external auditory cana... OMIM:154500
Cleft Velum
Recurrent otitis media, Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, ... ORPHA:99772
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari... ORPHA:2662
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Hearing impairment, Atresia of the external... OMIM:243180
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Choanal atresia, Hearing impairment, Atresia of the external... OMIM:612562
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh... OMIM:228520
Cerebrofaciothoracic Dysplasia
Short nose, Bifid ribs, Low-set, posteriorly rotated ears, Wide nose, Narrow chest, Cleft upper l... ORPHA:1394
Myopathic Ehlers-Danlos Syndrome
Pectus excavatum, Congenital finger flexion contractures, Adducted thumb, Congenital muscular tor... ORPHA:536516
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Abnorm... OMIM:144750
Kapur-Toriello Syndrome
Orofacial cleft, Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Po... ORPHA:2328
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Short nose, Meckel diverticulum, Thick nasal alae, Low-set ears, Micrognathia, Supe... ORPHA:163961
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Hyperactivity, Dental crowding, Pectus excavatum, Broad thumb, Arachnodactyly, Narrow ... OMIM:309520
Cornelia De Lange Syndrome 6
Short nose, Clinodactyly of the 5th finger, Hair-pulling, Anteverted nares, Pectus carinatum, Low... OMIM:620568
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Broad femoral neck, Genu varum, Flat capital femoral epiphysis, Ab... ORPHA:1159
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,... ORPHA:3344
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Aganglionic megacolon, Trismus, Temporomandibular ... OMIM:154400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Pectus carinatum, Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Arachnodactyl... ORPHA:481152
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, C... OMIM:246560
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Microtia, third degree, Low-set ears, Narrow mouth, Mandibular... ORPHA:2554
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin... ORPHA:85166
Granulomatosis With Polyangiitis
Chronic otitis media, Skin ulcer, Oral ulcer, Sinusitis, Nasal mucosa vasculitis, Concave nasal r... OMIM:608710
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnorm... ORPHA:2972
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Respiratory distress, Abnormality of the philtrum, Low-set ears, ... ORPHA:2759
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysphagia, Short distal phalanx o... ORPHA:798
Ablepharon Macrostomia Syndrome
Thin vermilion border, Anteverted nares, Microtia, Underdeveloped nasal alae, Microdontia, Hearin... ORPHA:920
Van Den Ende-Gupta Syndrome
Dislocated radial head, Small earlobe, Dental crowding, Short ribs, Femoral bowing, Everted lower... OMIM:600920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Pectus excavatum, Lower limb hypertonia, Short distal phalanx of finger, Aggressiv... OMIM:300534
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibility of the fin... OMIM:610967
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Coffin-Lowry Syndrome
Sensorineural hearing impairment, Redundant skin, Pectus carinatum, Everted lower lip vermilion, ... ORPHA:192
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft upper lip, Nasal polyposis OMIM:155145
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Low-... ORPHA:163966
Fraser Syndrome 1
Abnormal middle ear morphology, Dental crowding, Abnormal pinna morphology, Abnormality of the an... OMIM:219000
Distal Xq28 Microduplication Syndrome
Absent antihelix, Thick lower lip vermilion, Dental crowding, Microtia, Short lingual frenulum, H... ORPHA:293939
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ... ORPHA:2050
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal metaphysis morphology, Narrow greater sciatic notch, Short iliac bones, Abnormality of t... ORPHA:93316
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology OMIM:602196
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Biconca... OMIM:259420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Abn... ORPHA:3035
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impair... ORPHA:93262
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder m... ORPHA:1350
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Pectus carinatum, Mandibular prognathia, High palate, Pectus excavatum, Hypoplasia ... OMIM:300676
Three M Syndrome 2
Long philtrum, Delayed eruption of teeth, Short thorax, Anteverted nares, Prominent nasal tip, Pe... OMIM:612921
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped ... OMIM:210720
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Short long bone, Flat acetabular roof, Posterior... ORPHA:263508
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Recon Progeroid Syndrome
Scaling skin, Thin vermilion border, Proximal placement of thumb, Narrow nasal ridge, Anteverted ... OMIM:620370
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Abnormal e... ORPHA:90653
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandible, Wide an... ORPHA:85184
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Death in infancy, Atresia of the external auditory canal, Conduc... ORPHA:1393
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Bifid uvula,... OMIM:218600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Coxoauricular Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:1508
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition ORPHA:2776
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Enamel hypoplasia, Abnormal rib morphology, Brachydactyly ORPHA:2643
14Q22Q23 Microdeletion Syndrome
Hearing impairment, Atresia of the external auditory canal, Downturned corners of mouth, Microgna... ORPHA:264200
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block v... ORPHA:50
Atelosteogenesis Type Iii
Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,... ORPHA:56305
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Scoliosis, Cuboidal metacarpal, Short metacarp... ORPHA:968
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Warburg-Cinotti Syndrome
Ankle flexion contracture, Dental crowding, Gingival overgrowth, Elbow flexion contracture, Low-s... OMIM:618175
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Mandibular prognathia, Sc... OMIM:269300
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Butterfly vertebr... ORPHA:958
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irregular capital fe... OMIM:616716
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia ORPHA:93950
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Congen... ORPHA:93333
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Platyspondyly ORPHA:168555
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Anteverted nares, Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly rotated ears,... ORPHA:228396
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Crouzon Syndrome
Narrow palate, Choanal atresia, Hearing impairment, Conductive hearing impairment, Hypoplasia of ... ORPHA:207
Wolf-Hirschhorn Syndrome
Chronic otitis media, Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Microtia, Arachno... ORPHA:280
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Microtia, Low-set ears, High palate, Microdontia, Ca... OMIM:224690
Antley-Bixler Syndrome
Short nose, Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Delayed cranial su... ORPHA:83
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Nasal polyposis OMIM:620197
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Benign Schwannoma
Abnormal fibula morphology, Hearing abnormality, Intestinal polyposis, Vertigo, Facial palsy, Abn... ORPHA:252164
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic acetabulae, Hypoplastic iliac wing,... OMIM:620076
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Constricted iliac wing, Coxa valga, Cervical subluxation, Scoliosis, Car... OMIM:253010
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti... OMIM:600002
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Kagami-Ogata Syndrome
Retrognathia, Long clavicles, Bell-shaped thorax, Anteverted nares, Microtia, Thin ribs, Diastasi... OMIM:608149
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial b... OMIM:307800
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Micrognathia, Short neck, Short ... ORPHA:93298
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Purpura, Myositis, Arthritis, Nasal polyposis, Sinusitis, Dysphagia ORPHA:183
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Cone-shaped epiphysis, Short philtrum, Bilater... ORPHA:439822
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Dental crowding, Long p... OMIM:257850
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
7Q31 Microdeletion Syndrome
Long philtrum, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Tortic... ORPHA:251061
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment, Hypoplasia... OMIM:608154
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, 2-3 toe syndactyly, Facial diplegia, High palate, Tapered finger, Limb muscle weaknes... OMIM:218000
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Familial Osteodysplasia, Anderson Type
Long nose, Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of t... ORPHA:2769
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Long thorax, Hypoplasia of the maxilla, Postaxial pol... OMIM:619142
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Fraser Syndrome
Dental crowding, Abnormal pinna morphology, Microtia, Death in infancy, Low-set, posteriorly rota... ORPHA:2052
Peutz-Jeghers Syndrome
Abnormality of the nose, Intestinal obstruction, Esophageal neoplasm, Rectal prolapse, Neoplasm o... ORPHA:2869
Pycnodysostosis
Hypoplastic iliac wing, Persistent open anterior fontanelle, Wormian bones, Delayed eruption of p... ORPHA:763
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac... OMIM:182212
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Delayed cranial suture closure, Thin ribs, Thin long bone diaphyses, Cortical thi... ORPHA:93324
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof... ORPHA:3068
Cenani-Lenz Syndrome
Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacar... ORPHA:3258
Treacher Collins Syndrome 2
Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair... OMIM:613717
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,... OMIM:614753
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Low hanging columella, Mandibular prognathia, Hearing impairment, Hypoplasia of the... OMIM:620157
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Pectus excavatum, Short metacarpal, Broad femoral neck, Long phil... OMIM:212720
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Jackson-Weiss Syndrome
Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ... ORPHA:1540
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Saethre-Chotzen Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Broad thumb, Craniosynosto... ORPHA:794
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Microtia, Congenital pyloric atresia, Neonatal death, Flexion contracture, Unde... OMIM:612138
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Stenosis of the external auditory... OMIM:602483
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Flattened epiphysis, Short finger, Small epiphyses, Anteverted nares, Anterior... OMIM:300232
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic... OMIM:166210
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Wide nasal bridge, Depressed nasal bridge, Cupped ear OMIM:167730
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Malrotation of small bowel, Craniofa... OMIM:194190
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Zttk Syndrome
Bifid uvula, Cervical ribs, Craniosynostosis, Short philtrum, Abnormality of the dentition, Protr... OMIM:617140
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th... OMIM:201000
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Platyspondyly, Narrow chest, Vertebral compression fracture, Angulated humerus, Short... OMIM:616229
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Axenfeld-Rieger Syndrome
Anal stenosis, Everted lower lip vermilion, Microdontia, Hearing impairment, Hypoplasia of the ma... ORPHA:782
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Aarskog-Scott Syndrome
Short nose, Radial deviation of finger, Hypodontia, Anteverted nares, Hyperextensibility of the f... OMIM:305400
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B... OMIM:272460
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate... OMIM:615524
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Low-set ears, Depresse... OMIM:312150
Sheldon-Hall Syndrome
Tarsal synostosis, Abnormal hip bone morphology, Scoliosis, Vertebral segmentation defect, Short ... ORPHA:1147
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Narrow nasal bridge, Abnormal dental ... ORPHA:1798
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Self-mutilation, Bifid uvula, Dysphagia, Abnormality ... OMIM:607872
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Short ... OMIM:620099
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Hypoplastic nasal tip, Wide mouth, Congenital sensorineural hear... OMIM:157800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, High palate, Scapular winging, Depress... OMIM:600462
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral re... OMIM:610915
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Craniometaphyseal Dysplasia, Autosomal Dominant
Flared metaphysis, Abnormality of the vertebral column, Mandibular prognathia, Abnormal pelvic gi... OMIM:123000
Achondrogenesis, Type Ii
Short tubular bones of the hand, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Sh... OMIM:200610
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Tibial bowing, Femoral bowing, Short metacarpal, Short long bone, C... OMIM:608940
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Short nose, High, narrow palate, Retrognathia, Midgut malrotatio... ORPHA:2409
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disk degeneration, Arthralgia of the hip, Abnormality of the epiphyse... ORPHA:93311
Multiple Pterygium-Malignant Hyperthermia Syndrome
Broad alveolar ridges, Pectus excavatum, Arachnodactyly, Long philtrum, Advanced eruption of teet... ORPHA:2215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Microtia, Low-set ears, Anal atresia, Congenital contracture, Atresia of the ... OMIM:236670
Autosomal Dominant Omodysplasia
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar dislocation, ... ORPHA:93328
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Intestinal malrotation, Long p... ORPHA:199
Shprintzen-Goldberg Syndrome
Retrognathia, Pectus carinatum, Pectus excavatum, Arachnodactyly, Craniosynostosis, Anteverted na... ORPHA:2462
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Micrognathia, Ov... OMIM:620601
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Wide anterior fontanel, Mesomelic/r... ORPHA:2347
Auriculocondylar Syndrome 3
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Q... OMIM:615706
Barber-Say Syndrome
Redundant skin, Microtia, first degree, Wide mouth, Anteverted nares, Stenosis of the external au... OMIM:209885
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker thumb, Tibi... OMIM:108721
Osteoglophonic Dysplasia
Eruption failure, Pectus excavatum, Broad metatarsal, Short metacarpal, Broad thumb, Long philtru... OMIM:166250
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, ... OMIM:619638
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral epiphyses, A... OMIM:222765
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc... OMIM:200600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Rapp-Hodgkin Syndrome
Microdontia, Bifid uvula, Syndactyly, Small, conical teeth, Narrow nose, Taurodontia, 2-3 toe cut... OMIM:129400
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Rib fus... OMIM:304050
Achondrogenesis Type 1A
Narrow chest, Short thorax, Micromelia, Short palm, Micrognathia, Multiple rib fractures, Short n... ORPHA:93299
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal, Bilateral cleft ... OMIM:614900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Wide nose, Narrow chest, Abnormal antihelix morphology, Anteverte... ORPHA:96061
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Abnormal pinna morphology, Microtia, Short ribs, Short long bone, E... OMIM:617925
Cohen Syndrome
Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pectus excavatum, Too... ORPHA:193
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodonti... ORPHA:90652
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Scoliosis... ORPHA:140
Brachytelephalangic Chondrodysplasia Punctata
Short nose, Mixed hearing impairment, Epiphyseal stippling of toe phalanges, Epiphyseal stippling... ORPHA:79345
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Cleft palate,... OMIM:614261
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Everted lower lip ve... OMIM:212066
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal metaphysis morphology, Thick lower lip vermilion, Genu valgum, Thi... ORPHA:583
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Flared metaphysis, Anteverted nares, Wormian bones, Short ribs, Low-set ears, Short f... OMIM:616897
Vertebral Hypersegmentation And Orofacial Anomalies
Darwin tubercle of helix, Anteverted nares, Scapular winging, Unilateral cleft palate, Pectus exc... OMIM:619122
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Pectus excavatum, Mi... OMIM:602535
Doors Syndrome
Wide nasal base, Broad alveolar ridges, Long philtrum, Narrow palate, Anteverted nares, Abnormali... ORPHA:79500
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Short long bone, Flat acetabular roof, Abnormally ossifi... ORPHA:94068
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat... OMIM:620107
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Narrow nasal ridge, Anteverted n... OMIM:236500
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed epi... OMIM:600081
Premature Aging Syndrome, Penttinen Type
Retrognathia, Sensorineural hearing impairment, Tibial bowing, Aplasia of the nasal bone, Flexion... OMIM:601812
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Low-set ears, Depresse... OMIM:253290
X-Linked Hypophosphatemia
Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis, Genu varum, Enlargement of th... ORPHA:89936
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular mouth, Short phi... OMIM:620369
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed eru... OMIM:264700
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Thin ribs, Pectus excavatum, Kypho... OMIM:616294
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Narrow chest, Vertebral compression fracture, Thin ribs,... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... OMIM:602557
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Limitation of knee mobility, Wide distal femoral metaphysis, Platyspondyly, Dislo... OMIM:614856
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Abnormal pelvic girdle bone morphology, Abnormal... OMIM:166600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Slender long bone, Thin ribs, Micrognathia, Brachydactyly, Craniosynostosis OMIM:618265
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Conductive hearing impairment, Micrognathia, Cleft palate, Cleft upper l... OMIM:601076
Greenberg Dysplasia
Retrognathia, Short ribs, Short long bone, Short metacarpal, Thoracic hypoplasia, Tetraphocomelia... OMIM:215140
Lethal Congenital Contracture Syndrome 10
Narrow palate, Adducted thumb, Torticollis, Narrow chest, Femoral bowing, Low-set ears, High pala... OMIM:617022
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Narrow chest, Hypoplastic iliac wing... OMIM:225500
Trisomy 1Q
Congenital diaphragmatic hernia, Wide nose, Short thorax, Low-set ears, Narrow mouth, Anal atresi... ORPHA:261344
Glass Syndrome
Long nose, Hyperactivity, Dental crowding, Arachnodactyly, Long philtrum, Narrow nose, Aggressive... OMIM:612313
Stuve-Wiedemann Syndrome 1
Wide nasal base, Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bo... OMIM:601559
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Enlargement of the wrists, Delayed eruption of teeth, Enlargement of the ankles, ... OMIM:277440
Hypophosphatasia
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:436
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Facial hypoto... OMIM:216550
Fraser Syndrome 2
Wide nose, Low-set ears, Narrow mouth, Anal atresia, Atresia of the external auditory canal, Inte... OMIM:617666
Sillence Syndrome
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Abnormal antihelix morphology, Mandibular prognathia, Everted lower lip vermilion, Te... ORPHA:261144
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Joint disl... ORPHA:1190
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Slender long bone, Thin ribs, Short foot, Short palm, Carious tee... OMIM:244460
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Wide anterior fontanel... ORPHA:1860
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Mandibular prognathia, Short long bone, Split hand, Sh... OMIM:252600
Phaver Syndrome
Triphalangeal thumb, Pterygium, Aplasia/Hypoplasia of the earlobes, Low-set ears, Abnormal rib mo... ORPHA:2876
Pallister-Hall Syndrome
Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Bifid uvula, Polydactyly affecting th... ORPHA:672
Nablus Mask-Like Facial Syndrome
Retrognathia, Sandal gap, Small earlobe, Everted lower lip vermilion, Long philtrum, Craniosynost... OMIM:608156
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb amyotrophy, Hypoplasia of the maxilla, Restlessness, Lower limb musc... OMIM:300266
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Metaphysea... ORPHA:85167
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Thoracic hypo... ORPHA:56304
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Distal amyotrophy, High palate, Pectus excavatum, Hearing impairment, Incr... OMIM:617675
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H... OMIM:601499
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Frontorhiny
Low-set, posteriorly rotated ears, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia ... ORPHA:391474
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Narrow chest, Delayed eruption of teeth, Bowing of the long bones... ORPHA:667
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent... OMIM:101600
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Pallor, Torticollis ORPHA:71518
Marshall Syndrome
Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, Sensorineural hearing impai... ORPHA:560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypopl... ORPHA:397973
Craniofacial-Deafness-Hand Syndrome
Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening, Narrow... OMIM:122880
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ... ORPHA:1834
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Low-set ears, Depressed nasal tip, Hypoplasia of the maxilla, Recurrent upper respirat... ORPHA:2399
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Choanal stenosis, Malar flatte... OMIM:241310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Redundant neck skin, Small proximal tibial epiphyses, Broad distal phalanx of finge... ORPHA:96334
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Lateral Meningocele Syndrome
Dental crowding, Wormian bones, Low-set ears, High palate, Abnormality of the middle ear ossicles... OMIM:130720
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Pallor OMIM:613561
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Pectus excavatum, Microdontia, Death in infa... OMIM:259775
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Spasticity of facial muscles, Dysphagia, Pallor, Pseudobulbar par... OMIM:606353
Sclerosteosis 1
Sclerotic scapulae, Tooth malposition, Broad clavicles, Mandibular prognathia, Facial palsy, Abno... OMIM:269500
1P36 Deletion Syndrome
Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, Dysphagia, Abnormality... ORPHA:1606
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Narrow chest, Absent sternal ossification, Short thorax, Slender long bone, ... OMIM:613803
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Se... ORPHA:87
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Aggressive behavior, Cubitus valgus, Short philtrum, Tooth malposition, A... ORPHA:529962
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Pallor ORPHA:79283
Radio-Renal Syndrome
Hypoplasia of the radius, Retrognathia, Abnormal form of the vertebral bodies, Abnormal rib morph... ORPHA:3015
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Torticollis, Hypoplasia of the musculature, High palate... OMIM:265050
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
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
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Kyphoscoliosis, Butterfly vertebrae, Narrow che... OMIM:200980
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Conductive hearing impairme... ORPHA:2095
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Thick lower lip vermilion, Slender long bone, Genu recurvatum, Microtia, L... OMIM:613804
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal diaphysis morphology, Narrow chest, Clubbing of fingers, Slender long bone, Abnormal for... ORPHA:73230
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Hypoplasia of the prem... ORPHA:1106
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Tongue nodules, Microdontia, Pectus excavatum, Postaxial hand ... OMIM:258850
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Thin metacarpal cortices, Vertebral compression fracture, Bowed humerus, Thin lon... OMIM:616507
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid nasal tip, Pectus excavatum, Bifid uvula, Broad philtrum, ... OMIM:211380
Treacher-Collins Syndrome
Retrognathia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Mult... ORPHA:861
Codas Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo... ORPHA:1458
Craniolenticulosutural Dysplasia
Thin vermilion border, Wide nose, Delayed eruption of teeth, Narrow chest, Premature loss of teet... ORPHA:50814
Camptodactyly Syndrome, Guadalajara Type 3
Retrognathia, Wide nasal base, Abnormal pinna morphology, Abnormal rib morphology, Depressed nasa... ORPHA:488434
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Meckel diverticulum, Anteverted nares, Microtia, Lo... OMIM:311900
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Carpal os... OMIM:166300
Peutz-Jeghers Syndrome
Rectal prolapse, Oral melanotic macule, Labial melanotic macule, Clubbing of fingers, Clubbing, N... OMIM:175200
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... ORPHA:85165
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Micrognathia, Short distal phalanx of finger, T... ORPHA:1512
Bruck Syndrome 2
Platyspondyly, Pterygium, Pectus carinatum, Femoral bowing, Elbow flexion contracture, Knee flexi... OMIM:609220
Osteogenesis Imperfecta, Type I
Otosclerosis, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperfecta, Hip dyspl... OMIM:166200
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Wide anterior fontanel, Dela... OMIM:610682
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ... OMIM:300373
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal ... ORPHA:306542
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Dental crowding, Severe hearing impairment,... ORPHA:96170
Cerebrofacioarticular Syndrome
Anal stenosis, Bilateral choanal atresia/stenosis, Microtia, Narrow mouth, Camptodactyly, Irregul... ORPHA:314679
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Abnormality of the vertebral column, Abnormal pelvic girdle bone morphology, Thi... OMIM:607634
Microcephaly-Micromelia Syndrome
Wide nose, Narrow chest, Craniosynostosis, Oligodactyly, Low-set ears, Narrow mouth, Missing ribs... OMIM:251230
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Neuropathy, Congenital Hypomyelinating, 3
Hypomimic face, Narrow palate, Retrognathia, Gingival overgrowth, Facial diplegia, Low-set ears, ... OMIM:618186
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Bifid uvula, Absent thumb, Dysphagia, Cervical ribs, Short philtrum, Hearing impa... ORPHA:500150
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short thorax, Short long bone, Short ribs, Enl... ORPHA:3003
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microtia, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Anal atresia, A... ORPHA:3301
Isolated Arrhinia
Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal... ORPHA:1134
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Redundant neck skin, Anteverted nares, Exaggerated cupid's bow, Diastasis recti, Wr... ORPHA:254528
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Sclerotic cranial sutures,... OMIM:259600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Micrognathia, Neonatal death,... OMIM:224410
Cyclic Vomiting Syndrome
Hearing impairment, Pallor, Anorexia, Attention deficit hyperactivity disorder OMIM:500007
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin, Allergic rhinitis OMIM:603165
Trisomy 13
High, narrow palate, Narrow chest, Abnormal antihelix morphology, Sensorineural hearing impairmen... ORPHA:3378
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short... OMIM:614091
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Glutamine Deficiency, Congenital
Short nose, Thin vermilion border, Erythema, Anteverted nares, Low-set ears, Camptodactyly, Neona... OMIM:610015
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiple... OMIM:601809
Branchioskeletogenital Syndrome
Mixed hearing impairment, Upper limb peromelia, Pectus excavatum, Bifid uvula, Craniosynostosis, ... ORPHA:1299
Gaucher Disease, Perinatal Lethal
Retrognathia, Purpura, Short nose, Everted upper lip vermilion, Respiratory distress, Petechiae, ... OMIM:608013
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed epi... OMIM:241530
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s... ORPHA:37553
Saethre-Chotzen Syndrome
Long nose, Microtia, Prominent crus of helix, Partial duplication of the distal phalanx of the 3r... OMIM:101400
Trisomy 8P
Retrognathia, Clinodactyly of the 5th toe, Abnormal middle ear morphology, Clinodactyly of the 2n... ORPHA:264450
Stickler Syndrome
Chronic otitis media, Sensorineural hearing impairment, Pectus carinatum, Glossoptosis, Tooth age... ORPHA:828
Cartilage-Hair Hypoplasia
Limited elbow extension, Asymmetry of the thorax, Narrow chest, Metaphyseal cupping, Scoliosis, F... OMIM:250250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Rhizomelic arm shortening, Short metacarpal, Abnormal rib morphology, Iliac crest s... ORPHA:93317
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Otosclerosis, Scoliosis, Kyphosis, Bico... OMIM:166220
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Hallermann-Streiff Syndrome
Hyperactivity, Everted lower lip vermilion, Pectus excavatum, Narrow nose, Narrow palate, Decreas... OMIM:234100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi... OMIM:600785
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short long bone, Short... OMIM:615503
Meier-Gorlin Syndrome 5
Slender long bone, Small earlobe, Microtia, Low-set ears, Prominent metopic ridge, Hypoplasia of ... OMIM:613805
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... ORPHA:175
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Craniofacial Microsomia 1
Transverse facial cleft, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Maxil... OMIM:164210
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Death in childhood, Hearing impairment, Enterocolitis, Micrognathia, Hypoplasia of the maxilla OMIM:301108
Opsismodysplasia
Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Scolio... OMIM:258480
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Broad alveolar ridges, Wide mouth, Dysphagia, Thickened ribs, Aggressive behavior,... OMIM:252940
Monosomy 9Q22.3
Polydactyly, Short nose, Rhabdomyosarcoma, Orofacial cleft, Delayed eruption of teeth, Odontogeni... ORPHA:77301
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Pallor OMIM:612989
Schwartz-Jampel Syndrome
Flexion contracture of toe, Pectus carinatum, Everted lower lip vermilion, Wrist flexion contract... ORPHA:800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Hearing impairment, Atresia of the external auditory canal, Abnormality of the o... ORPHA:3186
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Delayed eruption of teeth, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:101800
Floating-Harbor Syndrome
Long nose, Dislocated radial head, Cochlear malformation, Microdontia, Impulsivity, Short metacar... ORPHA:2044
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Hy... OMIM:601216
Xylt1-Cdg
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femora... ORPHA:370930
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Clinodactyly of the 5th finger, Short philtrum, Limb hypertonia, Oligodont... OMIM:609460
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... OMIM:117650
Peripheral Cone Dystrophy
Pallor OMIM:609021
Kinsship Syndrome
Dislocated radial head, Death in infancy, Wide mouth, Cervical ribs, Bruxism, Coxa valga, Hip dis... OMIM:619297
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Carious teeth, Scoliosis, Femoral bowing OMIM:126550
Weill-Marchesani Syndrome 2
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... OMIM:608328
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal columella morphology, Thin metacarpal cortices, Wide nose, Slender long bone, Hypoplasia... ORPHA:2463
Al-Gazali Syndrome
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist flexion con... OMIM:609465
Rheumatic Fever
Anorexia, Recurrent pharyngitis, Arthritis, Sinusitis, Epistaxis, Aplasia/Hypoplasia of the abdom... ORPHA:3099
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Delayed eruption of teeth, Hypoplastic aceta... OMIM:253200
Leishmaniasis
Anorexia, Skin ulcer, Abnormal oral cavity morphology, Rhinitis, Abnormal oral mucosa morphology,... ORPHA:507
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Broad clavicles, Cutis laxa, Syndactyly, Broad ribs, Elbow flex... OMIM:151050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:109120
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Vertebral compression fracture, Hyper... OMIM:231070
Holoprosencephaly 7
Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na... OMIM:610828
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Sensorineural hearing impairment, Pallor ORPHA:49827
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Death in childhood, Abnormal pinna morphology, Low... OMIM:614437
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Scoliosis, Femoral bowing, Shor... OMIM:616723
Harrod Syndrome
Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn... ORPHA:2115
Kagami-Ogata Syndrome
Bell-shaped thorax, Anteverted nares, Microtia, Diastasis recti, Coat hanger sign of ribs, Microg... ORPHA:254519
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp... OMIM:600373
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:581
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, Tooth agenesis... ORPHA:2003
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Meconium ileus, Nasal polyposis, Sinusitis, Hearing impairment ORPHA:586
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Wide anterior fontan... OMIM:207410
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... OMIM:308050
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Prominent nose, Wide nasal bridge, Prominence of the premaxilla, Delayed ... OMIM:614886
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae ORPHA:79107
Intellectual Disability, Buenos-Aires Type
Clinodactyly of the 5th finger, Pectus carinatum, Mandibular prognathia, Abnormal pelvic girdle b... ORPHA:3079
Isolated Cleft Lip
Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m... ORPHA:199302
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Triphalangeal thumb, Cleft soft palate, Microtia, Low-set ear... ORPHA:124
Orofaciodigital Syndrome Xvi
Retrognathia, Low-set ears, Postaxial hand polydactyly, Apnea, Postaxial foot polydactyly, Hamart... OMIM:617563
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Micrognat... ORPHA:1300
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Respiratory distress, Thin ribs, High palate, Death in infancy, Centrally nucleated... OMIM:300219
Faciodigitogenital Syndrome, Autosomal Recessive
Microtia, Pectus excavatum, Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyl... OMIM:227330
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,... ORPHA:2588
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Generalized muscle... OMIM:139210
Developmental And Epileptic Encephalopathy 89
Death in childhood, Anteverted nares, Low-set ears, Cleft palate, Neonatal death, Flexion contrac... OMIM:619124
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Skin ulcer, Genu valgum, Hypoplasia of the musculature, Abnormality o... ORPHA:231226
Degcags Syndrome
Retrognathia, Sensorineural hearing impairment, Choking episodes, Wide mouth, Syndactyly, Long ph... OMIM:619488
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin... ORPHA:95699
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Underdeveloped tragus, Hypopla... OMIM:610829
Cowden Syndrome 5
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, H... OMIM:615108
Alagille Syndrome
Hypoplasia of the ulna, Long nose, Clinodactyly of the 5th finger, Short philtrum, Abnormal rib m... ORPHA:52
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal lumb... ORPHA:249
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the costochondral junction, Enlargement of the wrists, Delayed eruption of teeth, ... ORPHA:289157
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Sensorineur... OMIM:122470
Poland Syndrome
Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum, Short ribs, Kyphosis, Apl... ORPHA:2911
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Hyperactivity, Dental crowding, Dislocated radial h... OMIM:180849
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Hand poly... ORPHA:2167
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Respiratory dis... ORPHA:1145
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Respiratory distress, Short clavicl... OMIM:617088
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Short distal phalanx of the thumb, Vertebral w... OMIM:109400
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Short ribs, Short long bone, Intestinal malrotation, Short finger, Sho... OMIM:269860
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absen... OMIM:263650
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Vertebral segmentati... ORPHA:1120
Hereditary Acrokeratotic Poikiloderma
Skin ulcer, Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Xero... ORPHA:2907
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Anteve... OMIM:619859
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang... OMIM:252500
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Recurrent otitis media, Everted upper lip vermilion, Abnormal Eustach... ORPHA:513456
Esophageal Atresia
Respiratory distress, Barrett esophagus, Choanal atresia, Tracheoesophageal fistula, Esophagitis,... ORPHA:1199
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Recurrent otitis media, Genu valgum, Broad long bone diaphyses, Hip dysp... OMIM:301066
Coffin-Lowry Syndrome
Sensorineural hearing impairment, Pectus carinatum, Everted lower lip vermilion, Pectus excavatum... OMIM:303600
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Campomelia, Cumming Type
Bowing of the long bones, Abnormal rib morphology, Micromelia, Abnormally ossified vertebrae, Clu... ORPHA:1318
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Wide nose, Sensorineural hearing impairment, Otosclerosis, Temporoman... ORPHA:217085
Dystonia-Deafness Syndrome 1
Femoral retroversion, Hypoplastic scapulae, Kyphoscoliosis OMIM:607371
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Non-Functioning Paraganglioma
Conductive hearing impairment, Pallor, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:94080
Cowden Syndrome 6
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, H... OMIM:615109
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Clubbing of fingers, Meconium ileus, Nasal polyposis, Ileus, Chroni... OMIM:219700
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Sensorineural hearing impairment, Pallor, Vertigo ORPHA:3226
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Aggressive behavior, Hip osteoarthritis, Wide nose, Flexion contracture... ORPHA:580
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplasia of the radius, Triphalangeal thumb, 11 pairs of ribs, Narrow chest, Dela... OMIM:105650
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Esophageal atresia, Meckel diverticulum, Low-set ears, Diastasis recti, Tracheoesop... OMIM:265380
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Narrow chest, Respiratory distress, Wide anterior fontanel, Redundant ski... OMIM:616482
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Wide nose, Sensorineural hearing impairment, Otosclerosis, Temporoman... ORPHA:217093
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla, P... ORPHA:3044
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Distal Deletion 19P
Low-set, posteriorly rotated ears, Short philtrum, Sensorineural hearing impairment, Hypoplasia o... ORPHA:96129
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Long philtrum, Depressed nasa... OMIM:208150
Hurler Syndrome
Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Anteverted... ORPHA:93473
Cantú Syndrome
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short hallux, Finger syndactyly, Cub... ORPHA:1517
Beta-Thalassemia Major
Hyperplasia of the maxilla, Skin ulcer, Genu valgum, Hypoplasia of the musculature, Abnormality o... ORPHA:231214
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Sh... ORPHA:420794
Ulbright-Hodes Syndrome
Abnormal pinna morphology, Short ribs, Short metacarpal, Short humerus, Abnormal forearm bone mor... ORPHA:3404
Trisomy 18
Congenital diaphragmatic hernia, Short nose, Narrow palate, Low-set, posteriorly rotated ears, Es... ORPHA:3380
Acute Myelomonocytic Leukemia
Pallor, Abnormality of the gingiva ORPHA:517
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Geophagia, Esophageal web, Dysp... ORPHA:54028
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Anteverted nares, Thin ribs, Short ribs, Low-set ears, Fractu... OMIM:618188
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... OMIM:304150
Primrose Syndrome
Pectus excavatum, Short distal phalanx of finger, Aggressive behavior, Superiorly displaced ears,... OMIM:259050
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Joint dislocation, Pectus carinatum, Scoliosis, Shor... OMIM:616145
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Agitation ORPHA:276608
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Axillary pterygium, Rhizomelia,... OMIM:258315
Cutis Laxa, Autosomal Recessive, Type Iic
Anteverted nares, Mandibular prognathia, Dental crowding, Low-set ears, High palate, Camptodactyl... OMIM:617402
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Microtia, Malrotation of colon, Elbow flexion contracture, Abno... OMIM:113620
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Thin ribs, Facial diplegia, Low-set ears, Facial palsy, Nemaline bo... ORPHA:171430
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Dravet Syndrome
Obsessive-compulsive trait, Limited knee extension, Impulsivity, Tibial torsion, Pallor ORPHA:33069
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Weill-Marchesani Syndrome 1
Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa... OMIM:277600
Optic Atrophy 1
Pallor OMIM:165500
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Angelman Syndrome
Widely spaced teeth, Hyperactivity, Mandibular prognathia, Protruding tongue, Hypoplasia of the m... OMIM:105830
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Agitation, Polyphagia ORPHA:276556
Restrictive Dermopathy 1
Scaling skin, Rocker bottom foot, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtubu... OMIM:275210
Gm1 Gangliosidosis Type 1
Acetabular dysplasia, Spatulate ribs, Pectus carinatum, Gingival overgrowth, Short long bone, Low... ORPHA:79255
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Death in infancy, Broad thumb, Wide mouth, Low... ORPHA:373
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Agitation, Polyphagia ORPHA:276575
Holt-Oram Syndrome
Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Pectus excavatum, Aplasia of the 1s... OMIM:142900
Oculocerebrocutaneous Syndrome
Finger syndactyly, Abnormal rib morphology, Congenital hip dislocation, Missing ribs, Aplasia/Hyp... ORPHA:1647
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Agitation, Polyphagia ORPHA:276580
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Conductive hearing impairment, Absent thumb, ... OMIM:609053
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Agitation, Polyphagia ORPHA:324575
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D... ORPHA:666
Hemoglobin D Disease
Pallor ORPHA:90039
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short ribs, Short humerus,... OMIM:607143
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Sensorineural hearing impairment, T... ORPHA:818
Cowden Syndrome 1
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, H... OMIM:158350
Nestor-Guillermo Progeria Syndrome
Thin vermilion border, Limited elbow movement, Progressive clavicular acroosteolysis, Dental malo... OMIM:614008
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Cranioectodermal Dysplasia 2
Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Cutis laxa,... OMIM:613610
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Mixed hearing impairment, Abnormality of the sphenoid sinus, Widely spaced teeth,... ORPHA:309282
Hypohidrotic Ectodermal Dysplasia
Anteverted nares, Dry skin, Abnormality of the dentition, Tooth agenesis, Sinusitis, Hypoplasia o... ORPHA:238468
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Respiratory distres... OMIM:305100
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... ORPHA:3027
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I... OMIM:229850
Waldenström Macroglobulinemia
Anorexia, Purpura, Vertigo, Gingival bleeding, Hearing impairment, Epistaxis, Pallor ORPHA:33226
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Abnormal nasopharynx morphology, Short distal phalanx of finger, Increased density... OMIM:269150
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacarpal synostosi... OMIM:600383
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorineural hearing im... ORPHA:1435
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Bowed humerus, Short long bone, Short humerus, Thoracic hypoplasia, Brachydactyly, ... OMIM:619479
Isolated Exencephaly
Hypoplasia of the frontal bone, Low-set ears, Depressed nasal bridge, Abnormal facial skeleton mo... ORPHA:563612
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Everted lower lip vermilion, Hearing impairment, Dysphagia, Recurrent upper respir... OMIM:252930
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, De... ORPHA:534
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology ORPHA:2772
Evans Syndrome
Petechiae, Pallor, Epistaxis ORPHA:1959
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hearing impairment, Recurrent upper respiratory tract infections, Thickened ribs, ... OMIM:252920
8P11.2 Deletion Syndrome
Abnormal pinna morphology, High palate, Anosmia, Micrognathia, Supernumerary ribs, Depressed nasa... ORPHA:251066
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Fuse... OMIM:607323
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, Thin ribs, High palate ORPHA:456328
Autosomal Recessive Hypophosphatemic Rickets
Sclerotic vertebral endplates, Enlargement of the wrists, Polyarticular arthritis, Distal femoral... ORPHA:289176
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Supernumerary ribs, Hypodontia, Pallor, Er... OMIM:308300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microtia, Microdontia, Split foot, Abnormal nasopharynx morphology, Oligodontia, Selective tooth ... OMIM:129900
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Camurati-Engelmann Disease
Genu valgum, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal tibia morphology,... ORPHA:1328
Breath-Holding Spells
Pallor OMIM:607578
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Microtia, Low-set ears, High palate, Conductive hearing impairm... OMIM:618500
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Short humerus OMIM:239000
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Narrow nasal ridge, Pectus excavatum, Left ventricular hypertrophy, Long philtrum, Sh... OMIM:619127
Sarcoidosis
Abnormal nasal mucosa morphology, Parotitis, Facial palsy, Joint swelling, Enlargement of parotid... ORPHA:797
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn... OMIM:263520
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Micrognathia, Horizontal ribs, Bell-shaped thorax OMIM:614857
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Broad distal phalanges ... OMIM:218330
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Long philtrum, High, narrow palate, Hypoplasia of the musculature, Mandibular prognathia, Pectus ... ORPHA:1101
Charge Syndrome
Abnormal pinna morphology, Microtia, Anosmia, Tracheoesophageal fistula, Attention deficit hypera... ORPHA:138
Septopreoptic Holoprosencephaly
Impulsivity, Anteriorly placed anus, Dysphagia, Abnormal rib morphology ORPHA:280195
Waardenburg Syndrome, Type 1
Orofacial cleft, Mandibular prognathia, Sprengel anomaly, Supernumerary ribs, Congenital sensorin... OMIM:193500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver... OMIM:314390
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Microtia, Femoral bowing, Dysphagia, Median pseudocleft lip, Craniosynostosis, Pter... OMIM:616462
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Restrictive Dermopathy
Scaling skin, Thin clavicles, Multiple joint contractures, Thin ribs, Temporomandibular joint ank... ORPHA:1662
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Broad clavicles, Rhizomelic arm shortening, Short metacarpal, Short hu... ORPHA:508542
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Long clavicles, Fused cervical vertebrae, Respiratory distress, Thin ribs, Low-set ... ORPHA:83617
Wiedemann-Rautenstrauch Syndrome
Narrow nasal ridge, Small earlobe, Hypoplastic facial bones, Short humerus, Dysphagia, Long philt... OMIM:264090
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Abnormal rib morphology ORPHA:2578
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Brachydactyly, Flared metaphysis OMIM:602361
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Thickened ribs, Hyperactivity, Recurrent upper respiratory tract infections OMIM:252900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Anal stenosis, Microtia, Selective tooth agenesis, Split hand, Choanal a... OMIM:604292
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Primary Myelofibrosis
Anorexia, Purpura, Petechiae, Ecchymosis, Pallor ORPHA:824
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... ORPHA:959
Holoprosencephaly 4
Median cleft palate, Depressed nasal tip, Absent nasal septal cartilage, Median cleft upper lip, ... OMIM:142946
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Glossitis, Skeletal muscle atrophy, Pallor ORPHA:90045
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Facial hypotonia, Respiratory distress, Exaggerated cupid's ... ORPHA:2131
Aspergillosis
Abnormal long bone morphology, Nasal congestion, Abnormal esophagus morphology, Abnormal rib morp... ORPHA:1163
Hartsfield Syndrome
Wide nose, Hypoplasia of the frontal bone, Low-set ears, Ectrodactyly, Cleft upper lip, Cleft pal... OMIM:615465
Fontaine Progeroid Syndrome
Retrognathia, Redundant skin, Everted lower lip vermilion, Microdontia, Death in infancy, Syndact... OMIM:612289
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Agitation, Dysphagia, Restlessness ORPHA:13
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Pallor, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:276621
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Congenital Heart Block
Pallor ORPHA:60041
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Sensorineural hearing impairment, Microtia, ... ORPHA:1272
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Low-set, posteriorly rotated ears, Narrow mouth, Anal atresia, Intestinal malrot... ORPHA:2166
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Pectus excavatum, Short ... OMIM:261540
Fumarase Deficiency
Anteverted nares, Necrotizing enterocolitis, High palate, Pallor, Depressed nasal bridge OMIM:606812
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Enamel hypoplasia, Atrophic gastritis OMIM:240300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Pallor OMIM:611590
Dyskeratosis Congenita
Skin ulcer, Periodontitis, Abnormality of the dentition, Tracheoesophageal fistula, Hypoplasia of... ORPHA:1775
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Pallor, Tachypnea, Oral aversion ORPHA:134
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Finger syndactyly, Vertebral segmentation defect, Abnorm... ORPHA:887
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol... ORPHA:2908
Microtia With Meatal Atresia And Conductive Deafness
Microtia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Anotia OMIM:251800
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Mixed hearing impairment, Fused cervical vertebrae, Respirat... ORPHA:51608
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Thick lower lip vermilion, Prominent floating ribs, Tooth malposition, High palate,... ORPHA:2785
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... OMIM:181450
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Increased intervertebral space, Broad ischia, Broad femoral neck, Short pal... OMIM:619727
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Pallor, Paroxysmal vertigo, Pulsatile tinnitus ORPHA:29072
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Apneic episodes in infancy, Episodic tachypnea, Respiratory distress ORPHA:348
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Miscarriage, Abnormality of the... ORPHA:169189
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Agitation ORPHA:263455
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, Tracheoesophageal ... OMIM:214800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Macrotia, Pallor, Low-set ears, Smooth philtrum OMIM:277400
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Abnormal earlobe morphology, Leiomyosarcoma, O... ORPHA:116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Everted lower lip vermilion, Micrognathia, Short nasal bridge, Malar flatteni... OMIM:253280
Panhypophysitis
Polydipsia, Sensorineural hearing impairment, Pallor ORPHA:95513
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Holoprosencephaly 2
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Aplasia of the prem... OMIM:157170
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Orofacial cleft, Hypoplasia of the frontal bone, Cleft up... OMIM:229400
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Tachypnea, Pallor, Apnea ORPHA:20
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Sepsis In Premature Infants
Purpura, Petechiae, Nasal flaring, Enterocolitis, Pallor ORPHA:90051
Gm1-Gangliosidosis, Type I
Thickened ribs, Gingival overgrowth, Depressed nasal ridge, Death in infancy OMIM:230500
American Trypanosomiasis
Pallor, Aganglionic megacolon ORPHA:3386
Loeys-Dietz Syndrome 1
Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum, Arachnodactyly, Bi... OMIM:609192
Irida Syndrome
Pallor, Abnormal intestine morphology ORPHA:209981
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Absent radius, Anemic pallor, Low-set ears, Tracheoesophageal fistula, Hearin... OMIM:227646
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology ORPHA:93941
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Recurrent upper and lower respiratory tract infections ORPHA:331206
Imerslund-Gräsbeck Syndrome
Glossitis, Pallor, Angular cheilitis ORPHA:35858
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Adenohypophysitis
Sensorineural hearing impairment, Pallor ORPHA:95512
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... OMIM:192350
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Short philtrum, Oligodontia, Anal atresia, Microdontia, Hypoplasia of the maxilla,... OMIM:180500
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Respiratory distress, Arthritis, Clubbing, Swelling of proximal interphalangeal j... ORPHA:3260
Sheehan Syndrome
Sensorineural hearing impairment, Pallor, Dry skin, Vertigo ORPHA:91355
Non-Functioning Pituitary Adenoma
Vertigo, Pallor ORPHA:91349
Otosclerosis 10
Otosclerosis OMIM:615589
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Pallor, Punding ORPHA:64280
Craniorachischisis
Sirenomelia, Bifid sternum ORPHA:63260
Cold Agglutinin Disease
Pallor ORPHA:56425
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Gingival bleeding ORPHA:98870
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Yunis-Varon Syndrome
Absent sternal ossification, Flat acetabular roof, Kyphosis, Absent thumb, Short distal phalanx o... OMIM:216340
Tetrasomy 9P
Amelogenesis imperfecta, Sacral dimple, Clinodactyly of the 5th finger, Joint dislocation, Arthri... ORPHA:3310
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Fanconi Anemia, Complementation Group C
Anemic pallor, Hearing impairment, Complete duplication of thumb phalanx, Absent thumb, Flexion c... OMIM:227645
Prolactinoma
Vertigo, Pallor ORPHA:2965
Alagille Syndrome 1
Hypoplasia of the ulna, Long nose, Low-set ears, Abnormal rib morphology, Macrotia, Depressed nas... OMIM:118450
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Lethal Congenital Contracture Syndrome 5
Thin ribs, Death in infancy, Congenital contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:615368
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Fanconi Anemia, Complementation Group E
Absent radius, Anemic pallor, Hearing impairment, Absent thumb, Short thumb, Complete duplication... OMIM:600901
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia... ORPHA:2975
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Death in childhood, Pallor, Erythema, Villous atrophy OMIM:557000
Fanconi Anemia, Complementation Group A
Absent radius, Anemic pallor, Hearing impairment, Absent thumb, Short thumb, Complete duplication... OMIM:227650
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Respiratory distress, Stomatitis, Flaring of rib cage, Joint swelling, ... OMIM:612852
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Hereditary Spherocytosis
Pallor, Skin ulcer, Gout ORPHA:822
Tay-Sachs Disease
Pallor OMIM:272800
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Retinitis Pigmentosa 75
Pallor OMIM:617023
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Narrow mouth, Flexion contracture OMIM:614833
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A... OMIM:268300
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Pallor ORPHA:98849
Myelofibrosis
Purpura, Pallor OMIM:254450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Joint dislocation, Dental crowding, Thin ribs, Congenital hip dislocatio... OMIM:225400
Histiocytoid Cardiomyopathy
Tachypnea, Pallor, Cleft palate ORPHA:137675
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Von Hippel-Lindau Disease
Distal lower limb muscle weakness, Vertigo, Endolymphatic sac tumor, Upper limb muscle weakness, ... ORPHA:892
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
Pituitary Apoplexy
Pallor ORPHA:95613
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Ganglioneuromatosis, Proximal amyotrophy, Thic... ORPHA:653
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Retrognathia, Irregular sclerotic endplates, 2-3 toe syndactyly, Hypoplastic ilia... ORPHA:3455
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Aregenerative Anemia
Pallor ORPHA:101096
Neuroblastoma
Anemic pallor, Respiratory distress ORPHA:635
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Short humerus ORPHA:17
Pseudo-Torch Syndrome 2
Petechiae, Thin ribs OMIM:617397
Townes-Brocks Syndrome
Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Wide mouth, Aplasia/Hypoplasia of t... ORPHA:857
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Septic arthritis, Intussusception, Pallor ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Vertigo, Pallor ORPHA:91347
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Elliptocytosis 1
Pallor OMIM:611804
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Anemic pallor, Small intestinal polyposis, Adenomatous colonic polyposis, Duode... ORPHA:329971
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Respiratory distress, Arthritis, B... ORPHA:228123
Pagod Syndrome
Congenital diaphragmatic hernia, Abnormal rib morphology, Abnormal clavicle morphology, Death in ... ORPHA:991
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Death in childhood, Multiple rib fractures, Death in infancy OMIM:612301
Congenital Total Pulmonary Venous Return Anomaly
Increased anterioposterior diameter of thorax, Pallor, Apneic episodes in infancy, Respiratory di... ORPHA:99125
Goodpasture Syndrome
Tachypnea, Pallor OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gsc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gsc.

No publications found that use IMPC mice or data for Gsc.

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MGI Allele Allele Type Produced
Gsctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gsctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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