Gene Summary

Name:
fibroblast growth factor receptor 1
Synonyms:
Fgfr-1,  FGFR-I,  Flt-2,  Eask,  Fr1,  Hspy

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fgfr1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal embryo size Fgfr1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic growth retardation Fgfr1tm1.1(KOMP)Vlcg HOM E9.5 0.00
increased respiratory quotient Fgfr1tm1.1(KOMP)Vlcg HET Early adult 1.89×10-05
embryonic lethality prior to tooth bud stage Fgfr1tm1.1(KOMP)Vlcg HOM   E12.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 4)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 4)
Embryo N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Footplate N/A heterozygote 0.0% (0 of 4)
Forebrain N/A heterozygote 0.0% (0 of 4)
Forelimb N/A heterozygote 0.0% (0 of 4)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 4)
Head N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hindbrain N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 4)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 4)
Tail N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

2 Images

Embryo LacZ

LacZ images wholemount

16 Images

Gross Pathology and Tissue Collection

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Fgfr1 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 Fgfr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Hypotelorism, Metopic synostosis, Long ... OMIM:190440
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Craniosynostosis, Proptosis, Malar flattening, Coronal craniosynostosis... OMIM:123150
Osteoglosphonic Dysplasia
Craniosynostosis, Hypertelorism, Micrognathia, Multiple unerupted teeth, Tooth agenesis, Abnormal... ORPHA:2645
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Craniosynostosis, Hypertelorism ORPHA:2117
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Pfeiffer Syndrome
Mandibular prognathia, Cloverleaf skull, Dental crowding, Hypertelorism, Hypoplasia of the maxill... OMIM:101600
Pfeiffer Syndrome Type 1
Hypertelorism, Brachycephaly, Proptosis, High palate, Short nose, Midface retrusion, Bicoronal sy... ORPHA:93258
Osteoglophonic Dysplasia
Osteopenia, Frontal bossing, Mandibular prognathia, Cloverleaf skull, Delayed eruption of teeth, ... OMIM:166250
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Wide nasal bridge, Hypotelorism ORPHA:3366
Hartsfield Syndrome
Median cleft lip, Craniosynostosis, Cleft upper lip, Hypertelorism, Cleft palate, Hypotelorism, H... OMIM:615465
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Tooth agenesis, Ectrodactyly, Cl... OMIM:147950
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose ORPHA:280200
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Sensorineural hearing impairme... ORPHA:3157
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Hypertelorism, Abnormality of the dentition, Generalized joint laxity, Osteoporosis, ... ORPHA:432
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... ORPHA:220386
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal brainstem morphology, Abnormal heart morphology, Growth de... ORPHA:93924
Kallmann Syndrome
Tooth agenesis, Sensorineural hearing impairment, Cleft palate ORPHA:478
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis ORPHA:2396
Encephalocraniocutaneous Lipomatosis
Cerebellar hypoplasia, Dandy-Walker malformation OMIM:613001

The table below shows human diseases predicted to be associated to Fgfr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cryptotia, Familial
Abnormality of the outer ear, Cryptotia OMIM:123557
Question Mark Ears, Isolated
Hearing abnormality, Question mark ear OMIM:612798
Cranial Nerves, Congenital Paresis Of
Abnormal pinna morphology, Facial palsy OMIM:218100
Ear Pits, Posterior Helical
Posterior helix pit OMIM:128710
Darwinian Tubercle Of Pinna
Darwin tubercle of helix OMIM:124300
Ear Without Helix
Abnormal helix morphology OMIM:128800
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
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Cervical Rib
Cervical ribs OMIM:117900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis, Hypertelorism, Brachycephaly, Thicke... ORPHA:178377
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Proptosis, Craniosynostosis OMIM:148800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Micrognathia, Hypertelorism, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp... ORPHA:79113
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Proximal/mid... OMIM:184460
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Coxoauricular Syndrome
Microtia, Hip dislocation, Hearing impairment OMIM:122780
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the neck, Abnormali... ORPHA:294975
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib... ORPHA:93351
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Craniosynostosis, Narrow mouth OMIM:601379
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Microcephaly 6, Primary, Autosomal Recessive
Bifid nasal tip, Microtia, Microcephaly OMIM:608393
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Premature loss of primary teeth, Carious teeth, Proptosis, Dol... OMIM:241510
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hypertelorism, Brachycephaly, Proptosis, Midface retrusion OMIM:612247
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... OMIM:118651
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Micrognathia, Microcephaly, Wide nasal bridge, Microtia, Joint contrac... OMIM:248910
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Wide nasal bridge, Premature posterior fontanelle closure, Hypoteloris... OMIM:314320
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Trigonocephaly 2
Trigonocephaly, Wide nasal bridge, Metopic synostosis, Hypertelorism OMIM:614485
Symphalangism, Distal
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis OMIM:185700
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... ORPHA:3369
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Delayed Membranous Cranial Ossification
Frontal bossing, Hypertelorism, Prominent occiput, Decreased skull ossification, Midface retrusion ORPHA:3034
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Hypertelorism, Micrognathia, Wide nasal bridge, Short philtrum... ORPHA:1516
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ... ORPHA:1988
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Chromosome 1Q21.1 Duplication Syndrome
Frontal bossing, Hypertelorism OMIM:612475
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Cleft soft palate, Craniosyno... OMIM:604757
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Hypotelorism, Metopic synostosis, Long ... OMIM:190440
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... ORPHA:64755
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Microtia, Anteverted nares, Underdeveloped nasal alae OMIM:612138
Membranous Cranial Ossification, Delayed
Frontal bossing, Hypertelorism OMIM:155980
Branchiootic Syndrome
Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Atres... ORPHA:52429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Meier-Gorlin Syndrome 8
Microtia, Low-set ears, Micrognathia OMIM:617564
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... ORPHA:3236
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Hypertelorism, Micrognathia, Unilambdoid synostosis, Brachycephaly,... OMIM:618577
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis OMIM:176700
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Craniosynostosis-Mental Retardation-Clefting Syndrome
Orofacial cleft, Craniosynostosis OMIM:218650
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Mi... ORPHA:171829
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:2015
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
X-Linked Intellectual Disability, Stoll Type
Frontal bossing, Long philtrum, Malar flattening, Hypertelorism ORPHA:85326
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Cranioectodermal Dysplasia
Frontal bossing, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentitio... ORPHA:1515
Craniosynostosis 4
Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambdoidal craniosynostosis, ... OMIM:600775
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Robinow-Sorauf Syndrome
Craniosynostosis, Hypertelorism, Long nose, Plagiocephaly, Pansynostosis, Shallow orbits, Malar f... OMIM:180750
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
3-Hydroxyisobutyric Aciduria
Microcephaly, Microtia, Micrognathia ORPHA:939
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Hearing abnormal... ORPHA:2935
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, A... OMIM:201550
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Dentinogenesis imperfecta, Reduce... OMIM:112240
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Round ear ORPHA:1450
Acrocephalopolydactyly
Genu recurvatum, Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Hypertelorism, Parietal foramina,... OMIM:616602
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Coarse facial features, Recurrent fractures, Craniosynostosis, Hyper... OMIM:147060
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... ORPHA:2756
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous syndactyly, Genu va... ORPHA:166024
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Microtia OMIM:618158
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... OMIM:142900
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Craniosynostosis, Proptosis, Malar flattening, Coronal craniosynostosis... OMIM:123150
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals OMIM:277950
Hypertelorism-Microtia-Facial Clefting Syndrome
Microcephaly, Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory canal, Cond... ORPHA:2213
Summitt Syndrome
Prominent metopic ridge, Narrow face, Camptodactyly of finger, Craniosynostosis, Hypertelorism, G... ORPHA:3210
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Micrognathia, Bifid nasal tip, Microcephaly, Microtia, Macr... ORPHA:398156
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Otosclerosis 10
Otosclerosis OMIM:615589
Orofaciodigital Syndrome Xviii
Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po... OMIM:617927
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Horner syndrome, Microtia, Short mandibular rami OMIM:141300
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... OMIM:618761
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin... ORPHA:1703
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Short mandibular rami, Microtia, Atresia of the external auditory ... OMIM:141400
Wilson-Turner Syndrome
Uplifted earlobe, Malar prominence, Broad nasal tip, Micrognathia, Microtia ORPHA:3459
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Cleft palate, G... OMIM:614078
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Macrocephaly, Thi... ORPHA:261295
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Anteverted nares, Microcephaly, Wide nasal bridge, Radioulnar synostosis, Low-s... OMIM:614701
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint dislocation, Hip d... OMIM:618395
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Microretrognathia, Recurrent fra... OMIM:616294
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl... OMIM:223200
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Widely spaced teeth, Joint hypermobility OMIM:618906
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Microcephaly-Micromelia Syndrome
Micromelia, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis, Micro... OMIM:251230
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Humeroradial Synostosis
Small earlobe, Microtia, Wide nasal bridge OMIM:236400
Isotretinoin Syndrome
Depressed nasal bridge, Micrognathia, Microtia, Biparietal narrowing, Abnormality of the outer ear ORPHA:2305
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyper... OMIM:615222
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Brachycephaly, Craniosynostosis OMIM:614416
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Scoliosis, Clinodactyly of... ORPHA:376
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia... OMIM:613717
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Micrognathia, Cleft lip, Sensorineural hearing impairment... OMIM:301022
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Craniosynostosis, Hypertelorism, Micrognathia, Brachycephaly, Cleft palate, Malar f... ORPHA:2145
Coxoauricular Syndrome
Microtia, Hip dislocation, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Choanal atresia, ... ORPHA:949
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cupped ear, Mic... OMIM:619873
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Maxillofacial Dysostosis
Abnormal pinna morphology OMIM:155000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Developmental And Epileptic Encephalopathy 80
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... OMIM:618580
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... OMIM:113650
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Midface retrusion, Hypertelorism OMIM:611913
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Micrognathia, Microcephaly, Microtia, Atresia of the external auditory canal, Bi... OMIM:239800
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Wide nose, Micrognathia, Microtia, Low-set ears, Malar flattening, Thick nasal alae ORPHA:357175
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Craniotelencephalic Dysplasia
Craniosynostosis, Hypotelorism OMIM:218670
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Short neck, Sensorineural hearing impairment, Hydrocephalus, Alveolar ridge ov... OMIM:612938
Treacher Collins Syndrome 3
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, Malar fl... OMIM:248390
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Coarse facial features, Craniosynostosis, Thick lower lip vermilion, Hip dislocatio... OMIM:619451
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Wide nasal bridge, Craniosynostosis, Hypertelorism ORPHA:380
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Hype... OMIM:615761
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Parietal Foramina With Cleidocranial Dysplasia
Macrocephaly, Microtia, Widely patent fontanelles and sutures OMIM:168550
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Abnormal earlobe morphology, Wide nasal bridge, Microtia, Abnor... ORPHA:217017
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly, Cleft palate, Kyphoscoliosis OMIM:612913
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact... ORPHA:83
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Muenke Syndrome
Hypertelorism, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Plagiocephaly, Proptos... OMIM:602849
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Trigonocephaly, Craniosynostosis, Hypertelorism, Scaphocephaly, Wide nasal bridg... OMIM:175700
Intellectual Developmental Disorder, Autosomal Recessive 35
Wide nose, Micrognathia, Microtia, Low-set ears, Malar flattening, Thick nasal alae OMIM:615162
Osteoglosphonic Dysplasia
Craniosynostosis, Hypertelorism, Micrognathia, Multiple unerupted teeth, Tooth agenesis, Abnormal... ORPHA:2645
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Trichodentoosseous Syndrome
Frontal bossing, Increased bone mineral density, Taurodontia, Widely spaced teeth, Dolichocephaly... OMIM:190320
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... ORPHA:83468
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Micrognathia OMIM:300946
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Dental crowding, Craniosynostosis, Scaphocephaly, Hip dislocation, Macroglossia, Joi... OMIM:618523
Bent Bone Dysplasia Syndrome 1
Natal tooth, Hypertelorism, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, ... OMIM:614592
Tricho-Dento-Osseous Syndrome
Frontal bossing, Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, En... ORPHA:3352
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... OMIM:132400
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Brachycephaly, Skull asymm... OMIM:601853
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, H... ORPHA:2872
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cupped ear, Microtia, C... ORPHA:246
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Brachycephaly, High palate ORPHA:314575
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Muenke Syndrome
Tarsal synostosis, Hypertelorism, High, narrow palate, Brachycephaly, Plagiocephaly, Proptosis, C... ORPHA:53271
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Short neck, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overf... OMIM:609654
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... OMIM:605274
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Microcephaly, Micr... ORPHA:2994
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Craniosynostosis, Microtia, Low-set ears, Macrocephaly, Hearing impa... OMIM:619056
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Frontoocular Syndrome
Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Narrow mouth, Trigonocephaly... OMIM:605321
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Hypertelorism, Micrognathia, Large fontanelles, Brachycephaly, Ra... ORPHA:171839
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Craniofrontonasal Dysplasia
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Abnormality of the den... ORPHA:1520
Orofaciodigital Syndrome Iv
Toe syndactyly, Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Cleft palate... OMIM:258860
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Protruding ear... ORPHA:2316
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypertelorism... OMIM:123500
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Atelis Syndrome 1
Glue ear, Eczema, Prominent nose, Carious teeth, Bronchiectasis, Microtia OMIM:620184
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... OMIM:108120
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Macrocephaly-Developmental Delay Syndrome
Mandibular prognathia, Frontal bossing, Microretrognathia, Craniosynostosis, Scaphocephaly, Wide ... ORPHA:397612
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Ayme-Gripp Syndrome
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Hypertelorism, Abnormality of t... OMIM:601088
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Craniosynostosis, Hypertelorism ORPHA:2117
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion ORPHA:35099
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... OMIM:241310
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Tr... OMIM:618265
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypertelorism, Hypoplasia of the maxilla, Brachycephaly, Narrow pa... ORPHA:207
Basilar Impression, Primary
Platybasia, Craniofacial asymmetry OMIM:109500
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Low-set, posteriorly rotated ears, Anteverted nares, Dep... ORPHA:1327
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia, Camptodactyly of finger, Micrognathia ORPHA:2547
Rhiny
Short nose, Anteverted nares OMIM:180360
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Abnormal pinna morphology, P... OMIM:614175
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... OMIM:618736
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb... OMIM:256050
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Long philtrum, Short nose, Hypertelorism OMIM:125700
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia OMIM:172880
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly, Low-set ears OMIM:300804
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Otofaciocervical Syndrome
Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix morphology, Atresia ... ORPHA:2792
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Microtia, Retrognathia, Microcephaly ORPHA:163976
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Hyperlordosis, Coxa valga, Microg... OMIM:618363
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Arthrogryposis, Distal, Type 1C
Short neck, Limited neck range of motion, High palate, Clinodactyly of the 5th finger, Camptodact... OMIM:619110
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Hypertelorism, Open bite, High palate, Dolichocephaly, Trigonocephaly, Mid... ORPHA:168624
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Braddock-Carey Syndrome 2
Microcephaly, Bulbous nose, Atresia of the external auditory canal, Retrognathia, Hearing impairment OMIM:619981
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... OMIM:618106
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Prominent nose,... OMIM:618829
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, ... OMIM:620076
Deafness, X-Linked 7
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... OMIM:301018
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Hearing impairment, Cupped ear, Protruding ear, Microt... OMIM:618619
Down Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Protruding tongue, Abnormality of the dentitio... ORPHA:870
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Progressive microcephaly, Microtia... OMIM:610536
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumbar scoliosis, Clinodactyly of ... OMIM:614851
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia, Pancreatitis, Recurrent upper respiratory tract infections OMIM:620137
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Kyphoscoliosis, Short neck, Broa... OMIM:611209
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Malar flattening OMIM:301025
Marshall-Smith Syndrome
Craniosynostosis, Hypertelorism, Protruding tongue, Gingival overgrowth, Increased susceptibility... ORPHA:561
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, ... ORPHA:3181
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis ORPHA:1528
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... OMIM:610313
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Glossoptosis, Chronic otitis media... ORPHA:1388
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Microtia, Short nose, H... ORPHA:1914
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... OMIM:606164
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Anteverted nares, Posteriorly rotated ears, Micrognathia, Keratitis, Wide nasal bridge, Microtia,... OMIM:602562
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abno... ORPHA:2789
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Hypertelorism, Limitation of joint mobility, Dolichocephaly, Wormian bones, Pathologic fracture, ... ORPHA:166277
Intellectual Developmental Disorder, X-Linked 45
Macrotia, Protruding ear OMIM:300498
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Spondyloepimetaphyseal Dysplasia, Missouri Type