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 lethality prior to tooth bud stage Fgfr1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
embryonic growth retardation Fgfr1tm1.1(KOMP)Vlcg HOM E9.5 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
preweaning lethality, complete penetrance Fgfr1tm1.1(KOMP)Vlcg HOM   Early adult 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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 Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

Adult LacZ

LacZ Images Section

2 Images

Gross Morphology Embryo E9.5

Images

3 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Hypotelorism, Trigonocephaly, Craniosynostosis OMIM:190440
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Midface retrusion, Malar flattening, Craniosynostosis OMIM:123150
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Multiple unerupted te... ORPHA:2645
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Hartsfield Syndrome
Non-midline cleft lip, Hypertelorism, Cleft palate, Craniosynostosis ORPHA:2117
Pfeiffer Syndrome
High palate, Elbow ankylosis, Coronal craniosynostosis, Shallow orbits, Brachyturricephaly, Short... OMIM:101600
Pfeiffer Syndrome Type 1
High palate, Short nose, Proptosis, Bicoronal synostosis, Hypertelorism, Brachycephaly, Midface r... ORPHA:93258
Osteoglophonic Dysplasia
High palate, Eruption failure, Malar flattening, Craniosynostosis, Shallow orbits, Long philtrum,... OMIM:166250
Hartsfield Syndrome
Cleft upper lip, Hypotelorism, Cleft palate, Craniosynostosis, Hypoplasia of the frontal bone, Hy... OMIM:615465
Non-Syndromic Metopic Craniosynostosis
Hypotelorism, Trigonocephaly, Wide nasal bridge ORPHA:3366
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Cleft upper lip, Ectrodactyly, Tooth agenesis, Cleft palate, Cl... OMIM:147950
Microform Holoprosencephaly
Narrow nasal bridge, Short nose, Choanal atresia, Anteverted nares, Midnasal stenosis ORPHA:280200
Septo-Optic Dysplasia Spectrum
Sensorineural hearing impairment, Cleft palate, Tracheoesophageal fistula, Optic nerve hypoplasia... ORPHA:3157
Semilobar Holoprosencephaly
Hydrocephalus, Short stature, Abnormal brainstem morphology, Neural tube defect, Growth delay, Ab... ORPHA:220386
Lobar Holoprosencephaly
Hydrocephalus, Short stature, Abnormal brainstem morphology, Neural tube defect, Growth delay, Ab... ORPHA:93924
Normosmic Congenital Hypogonadotropic Hypogonadism
Cleft palate, Generalized joint laxity, Osteopenia, Abnormality of the dentition, Osteoporosis, C... ORPHA:432
Kallmann Syndrome
Sensorineural hearing impairment, Tooth agenesis, Cleft palate ORPHA:478
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology 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
Cryptotia, Abnormality of the outer ear OMIM:123557
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
Question Mark Ears, Isolated
Question mark ear OMIM:612798
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
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Cervical Rib
Cervical ribs OMIM:117900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Broad jaw, Thickened calvaria, Hypertelorism, B... ORPHA:178377
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Kleeblattschaedel
Proptosis, Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Micrognathia, Orbital craniosynostosis, Frontal bossing, Hypertelorism ORPHA:1538
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Craniorhiny
Turricephaly, Oxycephaly, Craniosynostosis OMIM:123050
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis, Abnormal facial shape, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Malar flattening, Mi... ORPHA:79113
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Trigonocephaly 2
Metopic synostosis, Hypertelorism, Trigonocephaly OMIM:614485
Coxoauricular Syndrome
Hip dislocation, Hearing impairment, Microtia OMIM:122780
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the neck, Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the ... ORPHA:294975
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Micromeli... ORPHA:93351
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Sagittal craniosynostosis, Trismus OMIM:218450
Craniosynostosis 3
Dental malocclusion, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Narrow mouth, Craniosynostosis OMIM:601379
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Hypophosphatasia, Childhood
Craniosynostosis, Dolichocephaly, Premature loss of primary teeth, Carious teeth, Frontal bossing... OMIM:241510
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Pectus carinatum,... OMIM:184255
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Microtia OMIM:608393
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Proptosis, Hypertelorism, Brachycephaly, Midface retrusion OMIM:612247
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Craniosynostosis, Micrognathia, Abnormality of the dentition, Scaphocephaly, Hypertelorism, Trigo... OMIM:616901
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Genu valgum, Short nose, Prop... OMIM:614078
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Trigonocephaly With Short Stature And Developmental Delay
High palate, Hypotelorism, Premature posterior fontanelle closure, Small anterior fontanelle, Sag... OMIM:314320
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Craniosynostosis 2
Hypotelorism, Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoron... OMIM:604757
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Delayed Membranous Cranial Ossification
Prominent occiput, Frontal bossing, Hypertelorism, Midface retrusion, Decreased skull ossification ORPHA:3034
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar creases, Scoliosis, ... ORPHA:968
Treacher Collins Syndrome 3
Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, Abnormality of the outer... OMIM:248390
Craniosynostosis 1
Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio... OMIM:123100
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Craniosynostosis OMIM:185700
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Joint contracture of the 5th... OMIM:248910
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Hypotelorism, Premature posterior fontanelle closure, Metopic suture patent to nasal... ORPHA:3369
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Maxillonasal Dysplasia, Binder Type
Large earlobe, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... ORPHA:1988
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Chromosome 1Q21.1 Duplication Syndrome
Frontal bossing, Hypertelorism OMIM:612475
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... OMIM:613005
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Craniosynostosis, Dolichocephaly, Micrognathia, Facial asymmetry... ORPHA:1516
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, S... ORPHA:64755
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Membranous Cranial Ossification, Delayed
Frontal bossing, Hypertelorism OMIM:155980
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Craniosynostosis OMIM:600593
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Craniosynostosis-Mental Retardation-Clefting Syndrome
Oral cleft, Craniosynostosis OMIM:218650
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Facial palsy, Atre... ORPHA:52429
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... OMIM:612290
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Platyspondyly, G... OMIM:617974
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis OMIM:218530
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Low-set, posteriorly rotated ears ORPHA:2015
Meier-Gorlin Syndrome 8
Micrognathia, Low-set ears, Microcephaly, Microtia OMIM:617564
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis OMIM:176700
X-Linked Intellectual Disability, Stoll Type
Frontal bossing, Hypertelorism, Long philtrum, Malar flattening ORPHA:85326
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Hypertelorism, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviatio... OMIM:618577
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Craniosynostosis 4
Pansynostosis, Malar flattening, Coronal craniosynostosis, Retrognathia, Sagittal craniosynostosi... OMIM:600775
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Cranioectodermal Dysplasia
Taurodontia, Hypotelorism, Hypodontia, Craniosynostosis, Dolichocephaly, Abnormality of the denti... ORPHA:1515
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... ORPHA:3246
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Atresia of the external auditor... ORPHA:3236
3-Hydroxyisobutyric Aciduria
Micrognathia, Microcephaly, Microtia ORPHA:939
Crossed Polysyndactyly
Hearing abnormality, Postaxial hand polydactyly, Abnormality of the outer ear, Abnormality of the... ORPHA:2935
Treacher Collins Syndrome 2
Conductive hearing impairment, Choanal stenosis, Choanal atresia, Microtia OMIM:613717
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis, A... OMIM:201550
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... OMIM:609166
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Cam... ORPHA:2311
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Microtia, Thickened nuchal skin fold, Deep palmar cre... OMIM:616580
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Trigonocephaly 1
Hypotelorism, Trigonocephaly, Craniosynostosis OMIM:190440
Orofaciodigital Syndrome Vi
High palate, Conductive hearing impairment, Cleft upper lip, Accessory oral frenulum, Mesoaxial h... OMIM:277170
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Microretrog... OMIM:618363
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... OMIM:142900
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... ORPHA:85166
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Round ear ORPHA:1450
Winchester Syndrome
Broad metacarpals, Kyphosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal bones OMIM:277950
6Q16 Microdeletion Syndrome
Macrocephaly, Microtia, Retrognathia, Micrognathia, Abnormal ear morphology, Low-set ears ORPHA:171829
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Microtia OMIM:612138
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Microtia OMIM:618158
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductive hearing impairme... OMIM:186500
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Coa... OMIM:147060
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorteni... ORPHA:1354
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner syndrome OMIM:141300
Otosclerosis 10
Otosclerosis OMIM:615589
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Narrow face, Prominent metopic ridge, Camptodactyly of finger, G... ORPHA:3210
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Auriculocondylar Syndrome 3
Glossoptosis, Stenosis of the external auditory canal, Retrognathia, Micrognathia, Bilateral cond... OMIM:615706
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Short mandibular rami, Mic... OMIM:141400
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... OMIM:614669
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina... ORPHA:3269
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, Microtia OMIM:300946
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Abnormal pinna morphology, Macrocephaly, Microretrognathia, Microtia, Low-set ears, Aganglionic m... OMIM:613603
Catifa Syndrome
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Cleft lip, I... OMIM:618761
Wilson-Turner Syndrome
Micrognathia, Malar prominence, Microtia ORPHA:3459
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Talipes equinovarus, Craniosynostosis, Short tibia, Abnormalit... OMIM:251230
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Retrognathia, Fa... ORPHA:107
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Microtia ORPHA:221054
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Humeroradial Synostosis
Small earlobe, Wide nasal bridge, Microtia OMIM:236400
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia, Coronal craniosynostosis, Osteopenia, ... OMIM:616294
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplica... OMIM:223200
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Gordon Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly of finger, Scoliosis, Talipes, Fi... ORPHA:376
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Short neck, Low-set,... ORPHA:1703
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose OMIM:614069
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Encephalocele, Micrognathia,... ORPHA:398156
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Brachycephaly, Craniosynostosis OMIM:614416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Short nose, Hypert... ORPHA:2145
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebra... ORPHA:40
Short Stature-Obesity Syndrome
Prominent nasal bridge, Narrow nose, Microtia OMIM:269870
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Cole-Carpenter Syndrome 1
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Micrognathia, Shallow orbits, Orbital ... OMIM:112240
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Branchiootorenal Syndrome 1
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Micro... OMIM:113650
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microcephaly, Microtia ORPHA:2213
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abnormal form of the... ORPHA:1801
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
20P12.3 Microdeletion Syndrome
Macrocephaly, Malar flattening, Microtia, Hypoplasia of the maxilla, Thickened helices ORPHA:261295
Coxoauricular Syndrome
Atresia of the external auditory canal, Hip dislocation, Hearing impairment, Microtia ORPHA:1508
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Abnormal pinna morphology, Uplifted earlobe, Overfolded helix, Micrognat... OMIM:618580
Jackson-Weiss Syndrome
Calcaneonavicular fusion, Midface retrusion, Malar flattening, Craniosynostosis OMIM:123150
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... OMIM:251255
Maxillofacial Dysostosis
Abnormal pinna morphology OMIM:155000
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Sensorineural hearing impairment, Hydrocephalus, Cleft palate, Thin ve... OMIM:612938
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Microcephaly, Radioulnar synostosis, Enamel agenesis, Low-set ears OMIM:614701
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Scoli... OMIM:618167
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Hypertelorism, Midface retrusion OMIM:611913
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, Sc... OMIM:604864
Schneckenbecken Dysplasia
Short neck, Platyspondyly, Ovoid vertebral bodies, Umbilical hernia, Dumbbell-shaped long bone, T... OMIM:269250
Isotretinoin Syndrome
Abnormality of the outer ear, Micrognathia, Biparietal narrowing, Microtia ORPHA:2305
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip vermilion, Glossop... OMIM:616367
Adenylosuccinate Lyase Deficiency
Anteverted nares, Low-set ears, Short nose ORPHA:46
Gms Syndrome
Depressed nasal bridge, Low-set ears, Short nose, Microtia OMIM:138770
Zechi-Ceide Syndrome
Conductive hearing impairment, Abnormal helix morphology, Cleft palate, Microtia, Thin vermilion ... ORPHA:217017
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends ORPHA:168555
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Single transve... OMIM:201170
Parietal Foramina With Cleidocranial Dysplasia
Macrocephaly, Widely patent fontanelles and sutures, Microtia OMIM:168550
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Cleft palate, Craniosynostosis, Micrognathia, Arthrogryposis multiplex congenita, ... OMIM:618265
Smith-Magenis Syndrome
EEG abnormality, Malar flattening, Morphological abnormality of the middle ear, Abnormality of th... OMIM:182290
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Postaxial polydactyly, Broad distal phalanx of finger, Long philtrum, Scoliosis, Hyperl... OMIM:615761
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Delayed eruption o... OMIM:184260
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Craniosynostosis, Long philtrum, Genu varum, Coarse facial features, Proptosis, Copp... OMIM:619451
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... ORPHA:168549
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Hypertelorism, Brachycephaly, Tu... OMIM:616602
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge OMIM:616430
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Dolichocephaly, Microdontia, Frontal bossing, Widely... OMIM:190320
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hypertelorism, Wide nasal bridge, Craniosynostosis ORPHA:380
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Micrognathia, Low-set ears, Malar flattening, Microtia ORPHA:357175
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Multiple unerupted te... ORPHA:2645
Muenke Syndrome
High palate, Dental malocclusion, Plagiocephaly, Malar flattening, Coronal craniosynostosis, Prop... OMIM:602849
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Joint hypermobility, Craniosynostosis OMIM:616721
Parenti-Mignot Neurodevelopmental Syndrome
Microtia, Craniosynostosis, Micrognathia, Cupped ear, Low-set ears, Posteriorly rotated ears OMIM:619873
Antley-Bixler Syndrome
Recurrent fractures, Joint stiffness, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostos... ORPHA:83
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Hemiverteb... ORPHA:1394
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... OMIM:311300
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Malar flattening, Microtia, Microgn... ORPHA:246
Bent Bone Dysplasia Syndrome 1
Gingival overgrowth, Malar flattening, Coronal craniosynostosis, Micrognathia, Hypertelorism, Mid... OMIM:614592
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Meckel Syndrome, Type 10
Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Anen... OMIM:614175
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Greig Cephalopolysyndactyly Syndrome
Hypertelorism, Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Delayed cranial s... OMIM:175700
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... OMIM:132400
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Atresia of the external audi... OMIM:239800
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Microdonti... ORPHA:3352
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Abnormal thorax morphology, Mesomelia,... OMIM:605274
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Microtia, Microcephaly, Camptodactyly of finger, Low-set, posteriorly rotated ... ORPHA:2994
Muenke Syndrome
Carpal synostosis, Plagiocephaly, High, narrow palate, Malar flattening, Coronal craniosynostosis... ORPHA:53271
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Recessive 35
Micrognathia, Low-set ears, Malar flattening, Microtia OMIM:615162
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Brachycephaly, Craniosynostosis, Frontal bossing, Thin upper lip vermilion ORPHA:314575
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Facial asymmetry, Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle,... OMIM:618736
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Short neck, L... OMIM:609654
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... ORPHA:2635
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Widely spaced teeth, Joint hypermobility, Craniosynostosis OMIM:618906
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Hypertelorism, High, narrow palate, Dolichocephaly, Micrognath... ORPHA:2872
Microtia
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Frontoocular Syndrome
High palate, Narrow mouth, Hypotelorism, Narrow philtrum, Coronal craniosynostosis, Micrognathia,... OMIM:605321
Chromosome 5P13 Duplication Syndrome
High palate, Brachycephaly, Hypotelorism, Craniosynostosis, Short philtrum, Frontal bossing, Prop... OMIM:613174
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Gomez-Lopez-Hernandez Syndrome
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... OMIM:601853
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... ORPHA:1972
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Long phil... ORPHA:171839
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... OMIM:226980
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Dental crowding, Joint contracture of the hand, Macroglossia, Craniosynostosis, Arthropathy, Scap... OMIM:618523
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Crouzon Syndrome
Coronal craniosynostosis, Shallow orbits, Frontal bossing, Sagittal craniosynostosis, Proptosis, ... OMIM:123500
Atelosteogenesis Type Iii
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Thoracic hyp... ORPHA:56305
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Metacarpal synostosis, Hypertelorism, Brachycephaly, Midface retrusion ORPHA:35099
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Ayme-Gripp Syndrome
Narrow mouth, Hypertelorism, Malar flattening, Craniofacial asymmetry, Delayed cranial suture clo... OMIM:601088
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Retrognathia, Microcephaly, Carious teet... OMIM:147770
Craniofrontonasal Dysplasia
High palate, Plagiocephaly, Craniosynostosis, Abnormality of the dentition, Camptodactyly of fing... ORPHA:1520
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sand... OMIM:256050
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... OMIM:258860
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Triangular mouth, Cleft palate, Short philtru... OMIM:200990
Basilar Impression, Primary
Craniofacial asymmetry, Platybasia OMIM:109500
Craniotelencephalic Dysplasia
Hypotelorism, Craniosynostosis OMIM:218670
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified v... ORPHA:1263
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Rhiny
Anteverted nares, Short nose OMIM:180360
Crouzon Syndrome
Narrow palate, Frontal bossing, Multiple suture craniosynostosis, Proptosis, Hypoplasia of the ma... ORPHA:207
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Arthrogryposis, Distal, Type 1A
Overlapping toe, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Congenital h... OMIM:108120
Hartsfield Syndrome
Non-midline cleft lip, Hypertelorism, Cleft palate, Craniosynostosis ORPHA:2117
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
X-Linked Intellectual Disability, Van Esch Type
Retrognathia, Microcephaly, Coronal craniosynostosis, Microtia ORPHA:163976
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Hand oligodactyly OMIM:172880
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the ca... ORPHA:163966
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Joubert Syndrome 10
Thick vermilion border, Deep philtrum, Low-set ears, Postaxial polydactyly OMIM:300804
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Conductive hearing impairment, Macroglossia, Thickened... ORPHA:870
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Cleft palate, Periventricular nodular heterotopia, Micrognathia, Optic a... OMIM:617201
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Macrotia, Thick vermilion border, Po... OMIM:618106
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... ORPHA:1106
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Open bite, Dolichocephaly, Midface retrusion, Mandibular prognathia, Hypertelorism, ... ORPHA:168624
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of th... OMIM:241310
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... OMIM:304950
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... OMIM:615222
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Overfolded helix, Thin... ORPHA:2631
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Microcephaly, Carious teeth, Atresia of ... ORPHA:2316
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Macrocephaly-Developmental Delay Syndrome
High palate, Microretrognathia, Craniosynostosis, Frontal bossing, Scaphocephaly, Mandibular prog... ORPHA:397612
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Acrocraniofacial Dysostosis
Hypotelorism, Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Proptosis, Natal toot... OMIM:201050
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Camptodactyly of finger, Microtia ORPHA:2547
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... ORPHA:2319
Catel-Manzke Syndrome
Cleft palate, Glossoptosis, Micrognathia, Chronic otitis media, Low-set, posteriorly rotated ears... ORPHA:1388
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ... ORPHA:1149
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Umbilical hernia, Rocker bottom fo... OMIM:265000
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Cleft palate, Microtia, Stenosis of the external auditory canal... OMIM:606164
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Hypertelorism, Dolichocephaly, Wormian bones, Pathologic fracture, Abn... ORPHA:166277
Sweeney-Cox Syndrome
High palate, Anal atresia, Narrow mouth, Wide anterior fontanel, Cleft palate, Microtia, Overfold... OMIM:617746
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Atresia of... ORPHA:2010
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Seckel Syndrome 7