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
embryonic growth retardation Fgfr1tm1.1(KOMP)Vlcg HOM E9.5 0.00
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
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.

Gross Morphology Embryo E9.5

Images

3 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

4 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

2 Images

Eye Morphology

Images Slit Lamp

2 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
Short nose, High, narrow palate, Hypotelorism, Metopic synostosis, Trigonocephaly, Long philtrum,... OMIM:190440
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Proptosis, Coronal craniosynostosis, Malar flattening, Craniosynostosis OMIM:123150
Osteoglosphonic Dysplasia
Abnormal bone ossification, Multiple unerupted teeth, Tooth agenesis, Micrognathia, Craniosynosto... ORPHA:2645
Hartsfield Syndrome
Craniosynostosis, Hypertelorism, Non-midline cleft of the upper lip, Cleft palate ORPHA:2117
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Pfeiffer Syndrome
Short nose, Cloverleaf skull, Mandibular prognathia, Dental crowding, High palate, Brachyturricep... OMIM:101600
Pfeiffer Syndrome Type 1
Brachycephaly, Short nose, Bicoronal synostosis, Proptosis, High palate, Hypertelorism ORPHA:93258
Osteoglophonic Dysplasia
Osteopenia, Short nose, Delayed eruption of teeth, Cloverleaf skull, Eruption failure, Mandibular... OMIM:166250
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Hartsfield Syndrome
Hypotelorism, Hypoplasia of the frontal bone, Cleft upper lip, Cleft palate, Craniosynostosis, Hy... OMIM:615465
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Cl... OMIM:147950
Microform Holoprosencephaly
Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis ORPHA:280200
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Sensorineural hearing impairment, Optic nerve hypoplasia, Tracheoesophageal f... ORPHA:3157
Semilobar Holoprosencephaly
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... ORPHA:220386
Lobar Holoprosencephaly
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... ORPHA:93924
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Abnormality of the dentition, Camptodactyly, Osteoporosis, Cleft palate, Hyperteloris... ORPHA:432
Kallmann Syndrome
Sensorineural hearing impairment, Cleft palate, Tooth agenesis ORPHA:478
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology ORPHA:2396
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Cerebellar hypoplasia 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
Cryptotia, Abnormality of the outer ear OMIM:123557
Question Mark Ears, Isolated
Hearing abnormality, Question mark ear OMIM:612798
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
Cranial Nerves, Congenital Paresis Of
Abnormal pinna morphology, Facial palsy OMIM:218100
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
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Cervical Rib
Cervical ribs OMIM:117900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Broad jaw, Increased bone mineral density, Craniosynostosis, Thickened calvaria, H... ORPHA:178377
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... 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, Dolichocephaly, Orbital craniosynostosis, Hypertelorism ORPHA:1538
Delayed Membranous Cranial Ossification
Frontal bossing, Hypertelorism, Decreased skull ossification, Prominent occiput ORPHA:3034
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ... OMIM:184460
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Submucous cleft pa... OMIM:620444
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the neck, Stillbirth, Abnormal hip bone morphology, Abnormality of th... ORPHA:294975
Coxoauricular Syndrome
Hearing impairment, Microtia, Hip dislocation OMIM:122780
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... OMIM:112910
Poland Syndrome
Hypoplasia of deltoid muscle, Hemivertebrae, Short ribs, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Dental malocclusio... OMIM:615314
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis, Downturned corners of mouth, Narrow mouth OMIM:601379
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Microtia, Bifid nasal tip OMIM:608393
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Hypophosphatasia, Childhood
Proptosis, Carious teeth, Frontal bossing, Dolichocephaly, Premature loss of primary teeth, Crani... OMIM:241510
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Hypertelorism, Proptosis OMIM:612247
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology... ORPHA:79113
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Microtia, Microcephaly, Conductive hearing impairment, Micro... OMIM:248910
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Hypotelorism, Premature posterior fontanelle closure, Broad alveolar... OMIM:314320
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism OMIM:185700
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Craniosynostosis 2
Brachycephaly, Supernumerary tooth, Turricephaly, Hypotelorism, Unicoronal synostosis, Cleft soft... OMIM:604757
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Trigonocephaly 2
Trigonocephaly, Metopic synostosis, Hypertelorism, Wide nasal bridge OMIM:614485
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Hypotelorism, Broad secondary alveolar ridge, Premature posterior fontanelle closure, High palate... ORPHA:3369
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Short philtrum, Frontal bossing, Micrognathia, Dolichocephaly, O... ORPHA:1516
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly ORPHA:93302
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Membranous Cranial Ossification, Delayed
Frontal bossing, Hypertelorism OMIM:155980
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short nose, Depressed nasal bridge, Short columella OMIM:155050
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Trigonocephaly 1
Short nose, High, narrow palate, Hypotelorism, Metopic synostosis, Trigonocephaly, Long philtrum,... OMIM:190440
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Microtia, Macrocephaly, Underdeveloped nasal alae OMIM:612138
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp... ORPHA:93304
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Platyspon... OMIM:617974
Prognathism, Mandibular
Craniosynostosis, Mandibular prognathia, Thick lower lip vermilion OMIM:176700
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of th... ORPHA:163665
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Orofacial cleft OMIM:218650
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Meier-Gorlin Syndrome 8
Microtia, Micrognathia, Low-set ears OMIM:617564
6Q16 Microdeletion Syndrome
Retrognathia, Macrocephaly, Anteverted nares, Microtia, Low-set ears, Abnormal ear morphology, Mi... ORPHA:171829
X-Linked Intellectual Disability, Stoll Type
Long philtrum, Frontal bossing, Hypertelorism, Malar flattening ORPHA:85326
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta... ORPHA:1836
Orofaciodigital Syndrome Type 10
Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh... ORPHA:2756
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Low-set, posteriorly rotated ears ORPHA:2015
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short nose, Proptosis, Micrognathia, Ulnar deviation of the wrist, ... OMIM:618577
Chromosome 1Q21.1 Duplication Syndrome
Frontal bossing, Hypertelorism OMIM:612475
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Cranioectodermal Dysplasia
Hypotelorism, Prominent occiput, Hypodontia, Abnormal dental enamel morphology, Everted lower lip... ORPHA:1515
Robinow-Sorauf Syndrome
Plagiocephaly, Long nose, Shallow orbits, Malar flattening, Pansynostosis, Flat face, Craniosynos... OMIM:180750
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis, A... OMIM:201550
Crossed Polysyndactyly
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the philt... ORPHA:2935
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Finger syndactyly, Ab... ORPHA:2311
3-Hydroxyisobutyric Aciduria
Microcephaly, Microtia, Micrognathia ORPHA:939
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... OMIM:616602
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Acrocephalopolydactyly
Genu recurvatum, Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... ORPHA:85166
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Round ear ORPHA:1450
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones OMIM:277950
Summitt Syndrome
Plagiocephaly, Genu valgum, Prominent metopic ridge, Narrow face, Camptodactyly of finger, Cranio... ORPHA:3210
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Proptosis, Microdontia, Shallow orbits, Coronal cranios... OMIM:112240
Wilson-Turner Syndrome
Microtia, Micrognathia, Broad nasal tip, Malar prominence ORPHA:3459
Hypertelorism-Microtia-Facial Clefting Syndrome
Microtia, Bifid nasal tip, Atresia of the external auditory canal, Conductive hearing impairment,... ORPHA:2213
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Microtia OMIM:618158
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Sensorineural hearing impairment, Conductive hearing im... OMIM:620576
Otosclerosis 10
Otosclerosis OMIM:615589
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Microcephaly-Micromelia Syndrome
Craniosynostosis, Narrow chest, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synos... OMIM:251230
ERI1-related disease
Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest... OMIM:608739
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Oculoauriculofrontonasal Syndrome
Macrocephaly, Wide nose, Microtia, Bifid nasal tip, Microcephaly, Conductive hearing impairment, ... ORPHA:398156
Craniosynostosis 4
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Proptosis, Coronal craniosynosto... OMIM:600775
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Microtia, Camptodactyly of finger, Micrognat... ORPHA:1703
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Short mandibular... OMIM:141400
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... OMIM:614135
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Short nose, Capitate-hamate fusion, Genu valgum, Recurrent patellar disl... OMIM:614078
20P12.3 Microdeletion Syndrome
Macrocephaly, Microtia, Hypoplasia of the maxilla, Malar flattening, Thickened helices, Wide nasa... ORPHA:261295
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Dental malocclusion, Horner syndrome OMIM:141300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... ORPHA:93360
Catifa Syndrome
Anteverted nares, Microtia, Mild microcephaly, Delayed eruption of teeth OMIM:618761
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Low-set ears, Microcephaly, Enamel agenesis, Radioulnar synostosis,... OMIM:614701
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Pes planus, Dislocate... OMIM:618395
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Pectus carinatum, Sc... OMIM:609223
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Single tr... OMIM:617927
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Barrel-shaped chest, Pectu... OMIM:615222
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Gordon Syndrome
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Scoliosis, Pectus excavatum, Camptoda... ORPHA:376
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Retrognathia, Microtia, Mandibular prognathia, Low-set ears, Microcephaly, Depressed nasal bridge OMIM:620535
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Proptosis, Coronal craniosynostosis, Malar flattening, Craniosynostosis OMIM:123150
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplicati... OMIM:223200
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short femoral neck OMIM:618392
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch OMIM:271620
Humeroradial Synostosis
Small earlobe, Microtia, Wide nasal bridge OMIM:236400
Isotretinoin Syndrome
Microtia, Biparietal narrowing, Micrognathia, Abnormality of the outer ear, Depressed nasal bridge ORPHA:2305
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Cole-Carpenter Syndrome 2
Osteopenia, Turricephaly, Triangular face, Lambdoidal craniosynostosis, Proptosis, High palate, C... OMIM:616294
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... ORPHA:3236
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis, Widely spaced teeth OMIM:618906
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Short nose, Turricephaly, Micrognathia, Cleft palate, Malar flattening, Craniosyno... ORPHA:2145
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th... OMIM:269250
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Parenti-Mignot Neurodevelopmental Syndrome
Microtia, Prominent nasal tip, Low-set ears, Micrognathia, Posteriorly rotated ears, Prominent na... OMIM:619873
Maxillofacial Dysostosis
Abnormal pinna morphology OMIM:155000
Developmental And Epileptic Encephalopathy 80
Polymicrogyria, Abnormal pinna morphology, High palate, Low-set ears, Protruding tongue, Hearing ... OMIM:618580
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Mullegama-Klein-Martinez Syndrome
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set ears, Facial p... OMIM:301022
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Treacher Collins Syndrome 2
Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair... OMIM:613717
Craniotelencephalic Dysplasia
Craniosynostosis, Hypotelorism OMIM:218670
Coxoauricular Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal, Hip dislocation ORPHA:1508
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Hypertelorism, Microtia, Facial Clefting Syndrome
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Mi... OMIM:239800
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Stenosis of the external a... OMIM:614669
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... OMIM:616367
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Wide nose, Stenosis of the external auditory canal, Abnormal helix m... ORPHA:217017
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Humeroradial synostosis OMIM:614416
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Long philtrum, Thick lower lip vermilion, Proptosis, High palate, Joint hype... OMIM:619451
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Wide nose, Microtia, Low-set ears, Thick nasal alae, Micrognathia, Malar flattening ORPHA:357175
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Irregular ... OMIM:604864
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Lissencephaly, Hydrocephalus, Sensorineu... OMIM:612938
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Broad distal phalanx of finger, Sandal gap, Dental crowding, Scoliosis, Hyperlordo... OMIM:615761
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hypertelorism, Frontal bossing, Wide nasal bridge ORPHA:380
Treacher Collins Syndrome 3
Microtia, Conductive hearing impairment, Micrognathia, Malar flattening, Hypoplasia of the zygoma... OMIM:248390
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Micromeli... OMIM:215045
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Short palm, Flared, irregular rib ends, Coxa vara ORPHA:168555
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Antley-Bixler Syndrome
Brachycephaly, Short nose, Turricephaly, Delayed cranial suture closure, Proptosis, Narrow mouth,... ORPHA:83
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Micrognathia OMIM:300946
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Auriculocondylar Syndrome 4
Narrow mouth, Question mark ear, Glossoptosis, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Atelis Syndrome 1
Microtia, Eczematoid dermatitis, Prominent nose, Carious teeth, Bronchiectasis, Glue ear OMIM:620184
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Trichodentoosseous Syndrome
Widely spaced teeth, Increased bone mineral density, Microdontia, Frontal bossing, Dolichocephaly... OMIM:190320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Osteoglosphonic Dysplasia
Abnormal bone ossification, Multiple unerupted teeth, Tooth agenesis, Micrognathia, Craniosynosto... ORPHA:2645
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, ... ORPHA:2549
Parietal Foramina With Cleidocranial Dysplasia
Microtia, Macrocephaly, Widely patent fontanelles and sutures OMIM:168550
Intellectual Developmental Disorder, Autosomal Recessive 35
Wide nose, Microtia, Low-set ears, Thick nasal alae, Micrognathia, Malar flattening OMIM:615162
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Dental crowding, Arthropathy, Craniosynostosis, Macroglossia, Hip dislocation, Scaphocephaly, Joi... OMIM:618523
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Frontal bossing, Craniosynostosis, Thin upper lip vermilion ORPHA:314575
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Muenke Syndrome
Brachycephaly, Plagiocephaly, High, narrow palate, Tarsal synostosis, Proptosis, Coronal craniosy... ORPHA:53271
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, Proptosis, High palate, Coronal craniosynostosis,... OMIM:602849
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Plantar flexion contracture, Temporomandibular joint ankylosis, Micrognathia... ORPHA:2872
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... ORPHA:246
Frontoocular Syndrome
Hypotelorism, Narrow philtrum, Proptosis, High palate, Narrow mouth, Trigonocephaly, Coronal cran... OMIM:605321
Short Stature And Facioauriculothoracic Malformations
Microtia, Low-set ears, High palate, Cleft upper lip, Cleft palate, Short neck, Overfolded helix,... OMIM:609654
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Short nose, Large fontanelles, Turricephaly, Thin vermilion border, Micrognathia, ... ORPHA:171839
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microtia, Microcephaly, Camptodactyly of finger, Microretrogna... ORPHA:2994
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Orofacial cleft, Joint hypermobility, High palate, Abnormality of t... ORPHA:1520
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Macrocephaly, Wide nose, Anteverted nares, Microtia, Low-set ears, Hearing impairment, Craniosyno... OMIM:619056
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis, Oral synechia, Micrognathi... ORPHA:1388
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Anteverted nares, Microtia, Micrognathia, Keratitis, Posteriorly rotated ... OMIM:602562
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Atelosteogenesis Type Iii
Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,... ORPHA:56305
Hypochondroplasia
Limited elbow extension, Frontal bossing, Malar flattening, Craniosynostosis, Genu varum OMIM:146000
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Low-set ears, Foot polydactyly, Postaxial... OMIM:258860
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Anosmia, Choanal atresia, Atresia of the external auditory canal, Conduct... ORPHA:2316
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Micrognathia, Clef... OMIM:618265
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D... OMIM:256050
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Hartsfield Syndrome
Craniosynostosis, Hypertelorism, Non-midline cleft of the upper lip, Cleft palate ORPHA:2117
Macrocephaly-Developmental Delay Syndrome
Mandibular prognathia, High palate, Frontal bossing, Microretrognathia, Craniosynostosis, Wide na... ORPHA:397612
Bent Bone Dysplasia Syndrome 1
Gingival overgrowth, Coronal craniosynostosis, Decreased calvarial ossification, Micrognathia, Na... OMIM:614592
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Cleft helix, Difficulty in tongue movements, Low-set, pos... ORPHA:137888
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Short nose, Thin vermilion border, Turricephaly, Wide anterior fontanel, High pala... OMIM:601853
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, Proptosis, Hi... OMIM:123500
Basilar Impression, Primary
Craniofacial asymmetry, Platybasia OMIM:109500
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Delayed cranial sutur... OMIM:113000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Flat occiput, Delayed closure o... OMIM:618736
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Cubitus valgus, Low-set, posteriorly rotated ears, Attached earlobe, Microtia, Anteve... ORPHA:1327
Otofaciocervical Syndrome
Abnormal antihelix morphology, Anteverted nares, Atresia of the external auditory canal, Macrotia... ORPHA:2792
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... ORPHA:1106
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Anencephaly, Abnormal pinna morphology, Postaxial hand po... OMIM:614175
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Rhiny
Short nose, Anteverted nares OMIM:180360
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy, Me... ORPHA:163966
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Pes planus, Genu valgum, Small epiphyses, Short thorax, Scoliosis, Hyperlordosis,... OMIM:618363
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Sacral dimple, Abnormal t... ORPHA:2633
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microtia, Micrognathia, Short nose ORPHA:2547
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Microtia, Progressive microcephaly, Low-set ears, Choanal atresia, ... OMIM:610536
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... OMIM:620076
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... ORPHA:1263
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Hypertelorism, Long philtrum OMIM:125700
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... OMIM:200990
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Aglossia, Pu... OMIM:241310
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Macrotia, Wide mouth, Thick vermilion border, Po... OMIM:618106
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Low-set, posteriorly rotated ears, Abnorma... ORPHA:2631
Braddock-Carey Syndrome 2
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Microcephaly, Bulbous nose OMIM:619981
Deafness, X-Linked 7
Stenosis of the external auditory canal, Hearing impairment, Atresia of the external auditory can... OMIM:301018
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Retrognathia, Microtia, Microcephaly ORPHA:163976
Ayme-Gripp Syndrome
Brachycephaly, Short nose, Long philtrum, Flat face, Mandibular prognathia, Delayed cranial sutur... OMIM:601088
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Intervertebral ... OMIM:271530
Crouzon Syndrome
Brachycephaly, Narrow palate, Turricephaly, Proptosis, Multiple suture craniosynostosis, Hypoplas... ORPHA:207
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scoliosis, Elbow flex... OMIM:619110
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Single transverse palmar crease, Short long bone... OMIM:611209
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Microtia, Low-set ears, Prominent metopic ridge, Hearing impairment... OMIM:618619
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Broad neck, Sensorineural hearing impairment, Microtia, Stenosis of the... OMIM:606164
Osteogenesis Imperfecta, Type Iv
Hearing impairment, Otosclerosis, Wormian bones, Dentinogenesis imperfecta OMIM:166220
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Sprengel Deformity
Abnormal shoulder morphology, Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulde... ORPHA:3181
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Nabais Sa-De Vries Syndrome, Type 2
Anteverted nares, Microtia, Low-set ears, Prominent nose, Micrognathia, Dystonia, Posteriorly rot... OMIM:618829
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... OMIM:265000
Mesomelic Dysplasia, Savarirayan Type
Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Abnormal foot morphology, Anterior ... OMIM:605274
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing ORPHA:1528
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia, Pancreatitis, Recurrent upper respiratory tract infections OMIM:620137
Kuskokwim Syndrome
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa... ORPHA:1149
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Hearing... OMIM:183600
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl... OMIM:610313
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Narrow palate, Retrognathia, Triangular face, Bifid uvula, Wide mouth, Craniosynostosis, Coarse f... OMIM:620428
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Marshall-Smith Syndrome
Retrognathia, Short nose, Reduced bone mineral density, Gingival overgrowth, Proptosis, Protrudin... ORPHA:561
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Proptosis, Hypertelorism ORPHA:35099
Paganini-Miozzo Syndrome
Microtia, Mandibular prognathia, Low-set ears, Posteriorly rotated ears, Malar flattening OMIM:301025
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Wormian bones, Limitation of joint mobility, Dolichocephaly, D... ORPHA:166277
Raine Syndrome
Mixed hearing impairment, Hydrocephalus, Gingival overgrowth, Abnormal pinna morphology, High pal... OMIM:259775
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu... OMIM:602111
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short nose, Anteverted nares, Microtia, Choanal atresia, Hearing impairment, Depre... ORPHA:1914
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Holoprosencephaly, Semilobar, With Craniosynostosis