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
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
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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

4 Images

Eye Morphology

Images Slit Lamp

2 Images

Gross Morphology Embryo E9.5

Images

3 Images

Adult LacZ

LacZ Images Section

2 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
Trigonocephaly, Craniosynostosis, Hypotelorism OMIM:190440
Jackson-Weiss Syndrome
Midface retrusion, Craniosynostosis, Malar flattening, Calcaneonavicular fusion OMIM:123150
Osteoglosphonic Dysplasia
Micrognathia, Craniosynostosis, Hypertelorism, Abnormal bone ossification, Tooth agenesis, Multip... ORPHA:2645
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Craniosynostosis, Hypertelorism ORPHA:2117
Pfeiffer Syndrome
Brachyturricephaly, High palate, Elbow ankylosis, Cloverleaf skull, Mandibular prognathia, Short ... OMIM:101600
Pfeiffer Syndrome Type 1
High palate, Brachycephaly, Short nose, Hypertelorism, Proptosis, Midface retrusion, Bicoronal sy... ORPHA:93258
Osteoglophonic Dysplasia
High palate, Cloverleaf skull, Eruption failure, Mandibular prognathia, Long philtrum, Increased ... OMIM:166250
Hartsfield Syndrome
Cleft palate, Cleft upper lip, Craniosynostosis, Hypertelorism, Hypotelorism, Hypoplasia of the f... OMIM:615465
Isolated Trigonocephaly
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Cleft upper lip, Clinodactyly, Sensorineural hearing impairment, Ectrodactyly, Toot... OMIM:147950
Microform Holoprosencephaly
Midnasal stenosis, Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia ORPHA:280200
Septo-Optic Dysplasia Spectrum
Cleft palate, Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Sensorineural he... ORPHA:3157
Semilobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Abnormal brainstem mo... ORPHA:220386
Lobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Abnormal brainstem mo... ORPHA:93924
Normosmic Congenital Hypogonadotropic Hypogonadism
Cleft palate, Osteoporosis, Hypertelorism, Generalized joint laxity, Osteopenia, Camptodactyly, A... 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
Abnormality of the outer ear, Cryptotia OMIM:123557
Cranial Nerves, Congenital Paresis Of
Facial palsy, Abnormality of the pinna OMIM:218100
Ear Pits, Posterior Helical
Posterior helix pit OMIM:128710
Question Mark Ears, Isolated
Question mark ear OMIM:612798
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Conductive hearing impairment, Micrognathia, Abnormality of the pinna, Bilateral conductive heari... OMIM:128980
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
Deafness-Ear Malformation-Facial Palsy Syndrome
Conductive hearing impairment, Facial palsy, Hypoplasia of the antihelix, Aplasia/Hypoplasia of t... ORPHA:3232
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Facial palsy, Facial paralysis, External ear malformation, Abnorma... OMIM:124490
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Scaphocephaly, Turricephaly, Dolichocephaly OMIM:123100
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Cervical Rib
Cervical ribs OMIM:117900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ... OMIM:221300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis, Hypertelorism, Broad jaw, Increased bone min... ORPHA:178377
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Isolated Oxycephaly
Coronal craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Lambdoidal craniosynostosis ORPHA:63440
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Proptosis, Cloverleaf skull OMIM:148800
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hypertelorism, Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Malar flattening, Proptosis, Limitation of joint mobility, Midface retrusion ORPHA:2343
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Craniorhiny
Craniosynostosis, Turricephaly, Oxycephaly OMIM:123050
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Abnormal facial shape, Craniosynostosis, Proptosis OMIM:608432
Coxoauricular Syndrome
Hip dislocation, Microtia, Hearing impairment OMIM:122780
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... ORPHA:79113
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Short ribs, Sprengel anomal... OMIM:173800
Trigonocephaly 2
Trigonocephaly, Hypertelorism, Metopic synostosis OMIM:614485
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Abnormality of the neck, Stillbirth, Abnormal t... ORPHA:294975
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Osebold-Remondini Syndrome
Abnormality of the vertebral column, Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of e... ORPHA:93351
Summitt Syndrome
Craniosynostosis, Oxycephaly OMIM:272350
Symphalangism, Proximal, 1A
Tarsal synostosis, Conductive hearing impairment, Proximal symphalangism of hands, Metacarpophala... OMIM:185800
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Short thorax,... OMIM:613686
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Congenital stapes ankylosis, Fused cervical vertebrae, Stapes anky... OMIM:184460
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis, Micrognathia, Trismus OMIM:218450
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Craniosynostosis, Narrow mouth OMIM:601379
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodies, ... ORPHA:3104
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Microtia OMIM:608393
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Hypertelorism, Craniosynostosis, Sagittal craniosynostosis, Delaye... OMIM:614188
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... OMIM:617719
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Frontal bossing, Proptosis, Dolichocephaly, Premature loss of pr... OMIM:241510
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Micrognathia, Trigonocephaly, Craniosynostosis, Hypertelorism, Scaphocephaly, Abnormality of the ... OMIM:616901
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Pectus carinatum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovo... OMIM:184255
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Hypertelorism, Proptosis, Midface retrusion OMIM:612247
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy
Round ear, Malar flattening, Hearing impairment OMIM:619354
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth OMIM:600252
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Flat face, Genu valgum, Narrow mouth, ... OMIM:614078
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, High palate, Trigonocephaly, Hypotelorism, Wide nasal bridge, Prematur... OMIM:314320
Membranous Cranial Ossification, Delayed
Frontal bossing, Hypertelorism OMIM:155980
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Microtia OMIM:612138
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Cleft soft palate, Craniosynostosis, Hypotelor... OMIM:604757
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... ORPHA:1797
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... OMIM:611702
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Malar flattening, Abnormality of the outer ear, Micr... OMIM:248390
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... ORPHA:93321
Delayed Membranous Cranial Ossification
Hypertelorism, Frontal bossing, Decreased skull ossification, Prominent occiput, Midface retrusion ORPHA:3034
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Craniosynostosis 3
Craniosynostosis OMIM:615314
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short columella, Short nose, Depressed nasal bridge OMIM:155050
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Symphalangism, Distal
Distal symphalangism of hands, Craniosynostosis, Distal foot symphalangism OMIM:185700
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Microtia, Joint contracture of the 5th finger, Micro... OMIM:248910
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Chromosome 1Q21.1 Duplication Syndrome
Frontal bossing, Hypertelorism OMIM:612475
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... OMIM:617974
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, High palate, Metopic suture patent to nasal root, Trigonocephaly, Hypo... ORPHA:3369
Trisomy 18-Like Syndrome
Low-set ears, Micrognathia, Abnormality of the pinna OMIM:601161
Craniofacial Dyssynostosis
Abnormal oral cavity morphology, Micrognathia, Short philtrum, Hypertelorism, Craniosynostosis, W... ORPHA:1516
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Sprengel anomaly, Coxa vara, Hip d... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Platyspondyly, Flared metaphysis... OMIM:607095
Maxillofacial Dysostosis
Abnormality of the pinna OMIM:155000
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Microt... OMIM:618500
Branchiootic Syndrome
Conductive hearing impairment, Micrognathia, Morphological abnormality of the middle ear, Facial ... ORPHA:52429
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... ORPHA:93304
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Syndactyly, Cervical ribs, Vertebral arch anomaly, ... OMIM:148050
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Low-set, posteriorly rotated ears ORPHA:2015
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... OMIM:182255
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus excavatum, Lower limb asymmetry, Pectus carinatum, Upper ... ORPHA:64755
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Platyspondyly,... ORPHA:163665
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Oral cleft OMIM:218650
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Microtia, In... OMIM:612290
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis OMIM:218530
Meier-Gorlin Syndrome 8
Low-set ears, Micrognathia, Microcephaly, Microtia OMIM:617564
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
X-Linked Intellectual Disability, Stoll Type
Frontal bossing, Hypertelorism, Malar flattening, Long philtrum ORPHA:85326
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Short nose, Hypertelorism, Mal... OMIM:600775
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Scoliosis, Tibial torsion, Bowing of the legs OMIM:188800
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... ORPHA:2098
3-Hydroxyisobutyric Aciduria
Micrognathia, Microcephaly, Microtia ORPHA:939
Prognathism, Mandibular
Mandibular prognathia, Craniosynostosis, Thick lower lip vermilion OMIM:176700
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Abnormal dental enamel morph... ORPHA:3236
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Auriculocondylar Syndrome 3
Question mark ear, Micrognathia, Bifid uvula, Glossoptosis, Bilateral conductive hearing impairme... OMIM:615706
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Long philtrum, Short nose, Hyperte... OMIM:618577
Treacher Collins Syndrome 2
Conductive hearing impairment, Choanal atresia, Choanal stenosis, Microtia OMIM:613717
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Osteoporosis, Hypotelorism, Craniosynostosis, Abnormal dental enamel mor... ORPHA:1515
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Micrognathia, Cleft palate, Abnormality of the pinna, Posteriorly rot... OMIM:614669
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Finger syndactyly, Abnormality of t... ORPHA:2935
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Platyspondylic Dysplasia, Torrance Type
Genu varum, Hypoplastic scapulae, Bowing of the long bones, Short thorax, Platyspondyly, Short fo... ORPHA:85166
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Au-Kline Syndrome
High palate, Cleft palate, Oligodontia, Postaxial polydactyly, Thickened nuchal skin fold, Downtu... OMIM:616580
Adducted Thumbs Syndrome
High, narrow palate, Cleft palate, High palate, Craniosynostosis, Velopharyngeal insufficiency, A... OMIM:201550
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Coarse facial features, High palate, Craniosynostosis, Hypertelorism, Osteopenia, Joint hypermobi... OMIM:147060
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Sensorineural hearing impairment, Abnormality of the middle ea... OMIM:609166
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Hypotelorism OMIM:190440
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Microtia OMIM:618158
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Ring Chromosome 8 Syndrome
Anteverted nares, Round ear, Short nose ORPHA:1450
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Microretrognathia, Coronal cleft vertebra... OMIM:618363
Hemifacial Atrophy, Progressive
Horner syndrome, Delayed eruption of teeth, Short mandibular rami, Dental malocclusion, Microtia OMIM:141300
Otosclerosis 10
Otosclerosis OMIM:615589
6Q16 Microdeletion Syndrome
Micrognathia, Macrocephaly, Retrognathia, Microtia, Low-set ears, Abnormal ear morphology ORPHA:171829
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Toe syndactyly, Cleft palate, High palate, Postaxial polydactyly, ... OMIM:277170
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara... OMIM:184252
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... OMIM:269250
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Rib ... ORPHA:2311
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed epiphyseal ossifi... ORPHA:166024
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Orofaciodigital Syndrome Xviii
Diastema, Short middle phalanx of finger, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Abnormal vertebral morphology, Phocomelia... OMIM:142900
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Abnormality of the pinna, Macrocephaly, Microtia, Low-set ears, Microretro... OMIM:613603
Wilson-Turner Syndrome
Malar prominence, Micrognathia, Microtia ORPHA:3459
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Kyphosis, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Branchiogenic Deafness Syndrome
Branchial cyst, Conductive hearing impairment, Cleft palate, Branchial fistula, Overfolded helix,... ORPHA:50815
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Conductive hearing impairment, Atresia of the external auditory canal, Mic... OMIM:141400
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Pectus carinatum, Capitate-hamate fusi... OMIM:271650
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, Microtia OMIM:300946
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Chromosome 8Q22.1 Duplication Syndrome
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... OMIM:151200
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Familial Intestinal Malrotation
Frontal bossing, Hypertelorism ORPHA:508410
Summitt Syndrome
Plagiocephaly, Narrow face, Craniosynostosis, Hypertelorism, Genu valgum, Camptodactyly of finger... ORPHA:3210
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Abno... OMIM:614135
Humeroradial Synostosis
Small earlobe, Wide nasal bridge, Microtia OMIM:236400
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Short Stature-Obesity Syndrome
Micrognathia, Microtia OMIM:269870
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Dyggve-Melchior-Clausen Disease
Shield chest, Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Disorganization, Mouse, Homolog Of
Cleft palate, Sacral meningocele, Cleft upper lip, Sensorineural hearing impairment, Hip dislocat... OMIM:223200
Cole-Carpenter Syndrome 2
High palate, Hypertelorism, Triangular face, Wormian bones, Osteopenia, Frontal bossing, Turricep... OMIM:616294
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Mosaic Trisomy 14
Micrognathia, High palate, Cleft palate, Ectopic anus, Wide mouth, Low-set, posteriorly rotated e... ORPHA:1703
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... OMIM:603546
Arthrogryposis, Distal, Type 2E
Micrognathia, Mild microcephaly, Joint contractures involving the joints of the feet, Joint contr... OMIM:121070
20P12.3 Microdeletion Syndrome
Malar flattening, Macrocephaly, Microtia, Hypoplasia of the maxilla, Thickened helices ORPHA:261295
Coxoauricular Syndrome
Atresia of the external auditory canal, Microtia, Hip dislocation, Hearing impairment ORPHA:1508
Neu-Laxova Syndrome 2
Low-set ears, Micrognathia, Abnormality of the pinna, Microcephaly OMIM:616038
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Craniosynostosis, Hypertelorism, Oxycephaly, Malar flattening, Flat face, ... OMIM:101120
Ohdo Syndrome
Micrognathia, Hearing impairment, Stenosis of the external auditory canal, Hypoplasia of teeth, M... OMIM:249620
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Acrocephalopolydactyly
Genu recurvatum, Microtia ORPHA:221054
Hypertelorism-Microtia-Facial Clefting Syndrome
Microcephaly, Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Micrognathia, Macrocephaly, Microtia, Microcephaly ORPHA:398156
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Gordon Syndrome
Pectus excavatum, Talipes, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi... ORPHA:376
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Humeroradial synostosis, Brachycephaly OMIM:614416
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... OMIM:618395
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the inner ear, Sh... ORPHA:2549
Kyphomelic Dysplasia
Flat acetabular roof, Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bow... ORPHA:1801
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Flared, irregular rib ends, Platyspondyly, Short palm ORPHA:168555
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Brachycephaly, Short nose, Craniosynostosis, Hypertelorism, Malar fla... ORPHA:2145
Jackson-Weiss Syndrome
Midface retrusion, Craniosynostosis, Malar flattening, Calcaneonavicular fusion OMIM:123150
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Cole-Carpenter Syndrome 1
Micrognathia, Microdontia, Osteopenia, Frontal bossing, Orbital craniosynostosis, Coronal cranios... OMIM:112240
Isotretinoin Syndrome
Biparietal narrowing, Abnormality of the outer ear, Micrognathia, Microtia ORPHA:2305
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... ORPHA:93314
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Branchiootorenal Syndrome 1
Branchial cyst, Conductive hearing impairment, High palate, Cleft palate, Microdontia, Dilatated ... OMIM:113650
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Midface retrusion, Micrognathia, Hypertelorism OMIM:611913
Coffin-Siris Syndrome 7
Coarse facial features, Microdontia, Wide mouth, Short philtrum, Trigonocephaly, Hypertelorism, B... OMIM:618027
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicula... ORPHA:2790
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Teebi Hypertelorism Syndrome 1
Long philtrum, Short nose, Craniosynostosis, Hypertelorism, Wide nasal bridge, Frontal bossing, N... OMIM:145420
Mental Retardation, X-Linked 45
Protruding ear, Macrotia OMIM:300498
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Narr... OMIM:251230
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Zechi-Ceide Syndrome
Conductive hearing impairment, Cleft palate, Short philtrum, Oligodontia, Abnormal earlobe morpho... ORPHA:217017
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Micrognathia, Cleft palate, Trigonocephaly, Craniosynostosis, Arthrogryposis multi... OMIM:618265
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... OMIM:187760
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Frontal bossing, Taurodontia, Increased bone mineral density, D... OMIM:190320
Parietal Foramina With Cleidocranial Dysplasia
Widely patent fontanelles and sutures, Macrocephaly, Microtia OMIM:168550
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Mandibular prognathia, Malar flattening, Hearing imp... OMIM:182290
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Gms Syndrome
Low-set ears, Short nose, Depressed nasal bridge, Microtia OMIM:138770
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Hypertelorism, Craniosynostosis, Turricephaly, Delayed cranial sutu... OMIM:616602
Odontochondrodysplasia 1
Genu varum, Death in infancy, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger... OMIM:184260
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Micrognathia, Malar flattening, Microtia ORPHA:357175
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Cleft palate, Postaxial polydactyly OMIM:612913
Intellectual Developmental Disorder, Autosomal Dominant 23
Smooth philtrum, Long philtrum, Postaxial polydactyly, Broad distal phalanx of finger, Drooling, ... OMIM:615761
Muenke Syndrome
Plagiocephaly, High palate, Capitate-hamate fusion, Brachycephaly, Hypertelorism, Malar flattenin... OMIM:602849
Osteoglosphonic Dysplasia
Micrognathia, Craniosynostosis, Hypertelorism, Abnormal bone ossification, Tooth agenesis, Multip... ORPHA:2645
Jawad Syndrome
Hallux valgus, 4-5 toe syndactyly, Short middle phalanx of the 5th finger, Thoracic scoliosis, Si... OMIM:251255
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Hypertelorism, Wide nasal bridge ORPHA:380
Bent Bone Dysplasia Syndrome
Micrognathia, Hypertelorism, Malar flattening, Gingival overgrowth, Coronal craniosynostosis, Mid... OMIM:614592
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Microtia, Microretrognathia, Microcep... ORPHA:2994
Acrocraniofacial Dysostosis
Conductive hearing impairment, Micrognathia, Craniosynostosis, Low-set, posteriorly rotated ears,... ORPHA:949
Auriculoosteodysplasia
Attached earlobe OMIM:109000
Cerebrofaciothoracic Dysplasia
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... ORPHA:1394
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Trigonocephaly, Hypertelorism, Craniosynostosis, Joint contracture of the han... OMIM:175700
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Micrognathia, Low-set, posteriorly rotated ears, Malar flattening,... ORPHA:246
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs,... OMIM:608728
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Micrognathia, Microtia, Atresia of the external auditory canal, Mi... OMIM:239800
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Obliteration of the calvarial diploe... ORPHA:3352
Antley-Bixler Syndrome
Cleft palate, Elbow ankylosis, Brachycephaly, Long philtrum, Short nose, Hypertelorism, Craniosyn... ORPHA:83
Muenke Syndrome
Plagiocephaly, Tarsal synostosis, High, narrow palate, Brachycephaly, Hypertelorism, Malar flatte... ORPHA:53271
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Delayed closure of the anterior fontanelle, Dislocated... OMIM:605274
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Limited elbow extension, Bu... OMIM:311300
Mental Retardation, Autosomal Dominant 22
Low-set ears, Micrognathia, Abnormality of the pinna, Microcephaly OMIM:612337
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, Micrognathia, Abnormality of the pinna, Microcephaly OMIM:608363
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Enamel agenesis, Stapes ankylosis, Low-set ears, Microcephaly, Radioulnar synostosis OMIM:614701
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Short Stature And Facioauriculothoracic Malformations
Cleft palate, High palate, Cleft upper lip, Overfolded helix, Microtia, Low-set ears, Short neck,... OMIM:609654
Mental Retardation, Autosomal Recessive 35
Low-set ears, Micrognathia, Malar flattening, Microtia OMIM:615162
Microtia
Abnormality of the pinna, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic h... ORPHA:83463
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Brachycephaly, Craniosynostosis, Frontal bossing, Thin upper lip vermilion ORPHA:314575
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Chromosome 15Q13.3 Deletion Syndrome
Abnormality of the pinna OMIM:612001
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micrognathia, Temporomandibular joint ankylosis, Hypertelorism, Wide nasal b... ORPHA:2872
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Ayme-Gripp Syndrome
Smooth philtrum, Brachycephaly, Mandibular prognathia, Long philtrum, Short nose, Hypertelorism, ... OMIM:601088
Otoonychoperoneal Syndrome
Ankle flexion contracture, Prominent superior crus of antihelix, Macrotia, Posteriorly rotated ea... OMIM:259780
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Abnormal rib cage morphology, Preaxial han... OMIM:608406
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Posteriorly rotated... OMIM:602483
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis... ORPHA:1388
Diastrophic Dysplasia
Costal cartilage calcification, Irregular epiphyses, Cleft palate, Talipes equinovarus, Short fin... OMIM:222600
Isolated Brachycephaly
Metacarpal synostosis, Brachycephaly, Hypertelorism, Proptosis, Midface retrusion ORPHA:35099
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Clubbing of toes, Clubbin... ORPHA:329252
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Intellectual Developmental Disorder, X-Linked 97
Macrotia OMIM:300803
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Frontoocular Syndrome
Micrognathia, High palate, Trigonocephaly, Hypotelorism, Narrow philtrum, Narrow mouth, Proptosis... OMIM:605321
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micrognathia, Large fontanelles, Brachycephaly, Long philtrum, Short nose, Hypertelorism, Cranios... ORPHA:171839
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... OMIM:226980
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Brachycephaly, Hypertelorism, Hypotelorism, Wide nasal bridge, Crani... OMIM:613174
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Micromelia, Aplasia/Hypoplasia of the rad... ORPHA:2633
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Basilar Impression, Primary
Platybasia, Craniofacial asymmetry OMIM:109500
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Abnormality of the pinna, Maculopapular e... ORPHA:79147
Gomez-Lopez-Hernandez Syndrome
Smooth philtrum, High palate, Brachycephaly, Short nose, Hypertelorism, Wormian bones, Craniosyno... OMIM:601853
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Facial palsy, Retrognathia, Microtia, Atresia of th... OMIM:147770
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Taurodontism, Microdontia, And Dens Invaginatus
Taurodontia, Pulp calcification, Dens in dente, Microdontia OMIM:313490
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Crouzon Syndrome
Shallow orbits, Brachycephaly, Mandibular prognathia, Hypertelorism, Frontal bossing, Proptosis, ... OMIM:123500
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... ORPHA:1263
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Death in infancy, Thin ribs, Abnormality of the calcaneus, Hypoplastic iliac wing, ... ORPHA:163966
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Multiple Pterygium Syndrome, Escobar Variant
Talipes equinovarus, Abnormality of the neck, Syndactyly, Umbilical hernia, Dysplastic patella, P... OMIM:265000
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
X-Linked Intellectual Disability, Van Esch Type
Retrognathia, Coronal craniosynostosis, Microcephaly, Microtia ORPHA:163976
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Arthrogryposis, Distal, Type 1A
Adducted thumb, Ulnar deviation of the hand or of fingers of the hand, Talipes equinovarus, Rocke... OMIM:108120
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Micrognathia, Posteriorly rotated ears, Microtia, Low-set ears, Microcephaly OMIM:616734
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Macroglossia, Craniosynostosis, Joint contracture of the hand, Hip dislocation, Scaphocephaly, Ar... OMIM:618523
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Crouzon Disease
Brachycephaly, Hypertelorism, Frontal bossing, Narrow palate, Abnormal facial shape, Turricephaly... ORPHA:207
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Camptodactyly of finger, Microtia ORPHA:2547
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Craniosynostosis, Hypertelorism ORPHA:2117
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Craniotelencephalic Dysplasia
Craniosynostosis, Hypotelorism OMIM:218670
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... ORPHA:166016
Rhiny
Anteverted nares, Short nose OMIM:180360
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Craniofrontonasal Dysplasia
Plagiocephaly, High palate, Brachycephaly, Hypertelorism, Craniosynostosis, Wide nasal bridge, Fa... ORPHA:1520
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Facial asymmetry, Bicoro... OMIM:618736
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Pectus carinatum, S... OMIM:615222
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... OMIM:612447
Periventricular Nodular Heterotopia 7
Optic atrophy, Micrognathia, Cleft palate, Periventricular nodular heterotopia, Hearing impairmen... OMIM:617201
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Open bite, Trigonocephaly, Mandibular prognathia, Hypertelorism, Midface retrusion, ... ORPHA:168624
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Micrognathia, Hypertelorism, Gingival ov... ORPHA:313855
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Facial palsy, Microtia, Atresia of the external aud... ORPHA:2316
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... OMIM:304950
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis, Widely spaced teeth OMIM:618906
Macrocephaly-Developmental Delay Syndrome
High palate, Mandibular prognathia, Craniosynostosis, Wide nasal bridge, Frontal bossing, Scaphoc... ORPHA:397612
Distal Monosomy 17Q
Optic atrophy, Low-set, posteriorly rotated ears, Microtia, Prominent metopic ridge, Microcephaly ORPHA:1597
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs OMIM:211120
Hypomandibular Faciocranial Dysostosis
Micrognathia, Aglossia, Malar flattening, Pursed lips, Coronal craniosynostosis, Hypoplasia of th... OMIM:241310
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Low-set ears, Microtia, Atresia of the external auditory canal ORPHA:3429
Mandibulofacial Dysostosis With Mental Retardation
Micrognathia, Malar flattening, Abnormality of the pinna, Abnormality of the outer ear, EEG abnor... OMIM:248400
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the wrist, Carpal syno... ORPHA:2010
Pierre Robin Syndrome And Oligodactyly