Gene Summary

Name:
msh homeobox 1
Synonyms:
Hox7,  Hox-7,  muscle-segment homeobox,  msh,  Hox7.1

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
cyanosis Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
increased circulating free fatty acids level Msx1tm1b(KOMP)Wtsi HET Early adult 3.77×10-05
preweaning lethality, complete penetrance Msx1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased heart weight Msx1tm1b(KOMP)Wtsi HET Early adult 1.11×10-05
abnormal facial morphology Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
decreased thigmotaxis Msx1tm1b(KOMP)Wtsi HET Early adult 5.99×10-05
cleft palate Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Epididymis 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)
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 Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine 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)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
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%
midbrain 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)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 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)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Section

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Msx1 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 predicted to be associated to Msx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
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
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... OMIM:221300
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... ORPHA:199306
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ... OMIM:619736
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... OMIM:108760
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Agenesis of lateral incisor, Hypodontia, Anodon... OMIM:313500
Rhizomelic Syndrome
Micrognathia, Hip dislocation, Wide anterior fontanel OMIM:268250
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Lissencephaly, X-Linked, 2
High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Micrognathia, Thin upper l... OMIM:300215
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... ORPHA:401942
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Chromosome 16Q22 Deletion Syndrome
High palate, Wide anterior fontanel, Wide nasal bridge, Sensorineural hearing impairment, Microgn... OMIM:614541
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Holoprosencephaly 9
Midface retrusion, Prominent antihelix, Holoprosencephaly, Cleft palate, Bilateral cleft lip and ... OMIM:610829
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Conductive hearing impairment, Wide anterior fontanel, Ab... OMIM:608545
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pteryg... OMIM:619339
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... OMIM:269300
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft lip, Midface retrusion, Bilateral cleft palate, Cryp... OMIM:616788
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, High palate, Wide anterior fontanel, Abnormality of the elbow, Micrognat... ORPHA:3098
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Dilated third ventricle, High palate, Long philtrum, Prominent nose, Lateral ventr... OMIM:619244
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker... ORPHA:1538
Dislocation Of The Hip-Dysmorphism Syndrome
Hearing abnormality, Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominenc... ORPHA:2412
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cle... OMIM:261800
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Mohr Syndrome
Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Tongue nodules, Micro... OMIM:252100
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, High palate, Wide anterior fontanel, Short nose, Posteriorly rotated ears, Antever... OMIM:601853
Peroxisome Biogenesis Disorder 7A (Zellweger)
High palate, Long philtrum, Wide anterior fontanel, Death in infancy, Jaundice, Large posterior f... OMIM:614872
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Dolichocephaly, Microretrognathia, Fr... OMIM:220220
Auriculocondylar Syndrome 2
Micrognathia, Cleft palate, Hearing impairment, Glossoptosis, Posteriorly rotated ears, Overfoldi... OMIM:614669
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Hearing impairment, Delayed eruption of teeth ORPHA:2222
Lowry-Maclean Syndrome
Cleft palate, Convex nasal ridge, Craniosynostosis, Delayed eruption of teeth OMIM:600252
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Short... OMIM:613443
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Respiratory distress, Micr... ORPHA:141152
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Long philtrum, Wide nasal bridge, Ventriculomegaly, Micrognathia, A... OMIM:618577
Non-Distal Trisomy 10Q
Brachycephaly, Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermi... ORPHA:1695
Acrofacial Dysostosis Syndrome Of Rodriguez
Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Micrognathia, Short philt... OMIM:201170
Brachydactyly, Type B1
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... OMIM:113000
Isolated Pierre Robin Syndrome
Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cleft palate, Glossoptosis ORPHA:718
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Asthma, Microtia, Attention deficit hyperactivity disor... OMIM:618761
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cranial sutures, Lo... ORPHA:163649
Cleft Velum
Conductive hearing impairment, Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficie... ORPHA:99772
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Congenital finger flexion contractures, Hyperactivity, Micrognathia, Limited... ORPHA:166108
Saethre-Chotzen Syndrome
Brachycephaly, Oxycephaly, Parietal foramina, Convex nasal ridge, Narrow palate, Plagiocephaly, S... OMIM:101400
Perching Syndrome
Cyanosis, High palate, Respiratory distress, Depressed nasal bridge, Dysphagia OMIM:617055
Otodental Dysplasia
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... OMIM:166750
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of... ORPHA:2027
Gómez-López-Hernández Syndrome
Brachycephaly, Abnormal cerebellum morphology, Turricephaly, Hydrocephalus, Midface retrusion, An... ORPHA:1532
Rubinstein-Taybi Syndrome 2
Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Hyperactivity,... OMIM:613684
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Deep philtrum, Prominence of the premaxilla, Short nose, Evert... OMIM:137550
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Abnormality of dental morpholo... ORPHA:2025
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Underdeveloped nasal alae, Small earlobe, Pierre-Robin sequence, Prominence of th... ORPHA:364577
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Micrognathia, Depressed nasal bridge, Wide anterior fontanel, Anteverted nares OMIM:618272
Cleidocranial Dysplasia 2
Genu valgum, Wide anterior fontanel, Delayed eruption of primary teeth, Delayed ossification of c... OMIM:620099
Elsahy-Waters Syndrome
Brachycephaly, Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula... OMIM:211380
Progeroid Syndrome, Petty Type
Mandibular prognathia, Wide anterior fontanel, Reduced subcutaneous adipose tissue, Everted lower... ORPHA:2963
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Wide anterior fontanel, Long philtrum, Short nose, Congenital hip dislocation, Narro... OMIM:219200
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ... ORPHA:3145
Holoprosencephaly 5
Macrotia, High palate, Syntelencephaly, Deep philtrum, Lateral ventricle dilatation, Hydrocephalu... OMIM:609637
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Low-set, posteriorly rotate... ORPHA:2015
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fo... OMIM:259420
17Q21.31 Microduplication Syndrome
High palate, Micrognathia, Short philtrum, Short nose, Abnormality of the outer ear, Anteverted n... ORPHA:217340
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Wide anterior fontanel, Micrognathia... OMIM:263210
Congenital Myopathy 13
Brachycephaly, Conductive hearing impairment, High palate, Ventriculomegaly, Micrognathia, Midfac... OMIM:255995
Crouzon Syndrome
Brachycephaly, Respiratory insufficiency, Convex nasal ridge, Narrow palate, Chiari malformation,... ORPHA:207
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, High palate, Wide anterior fontanel, Wide nasal bridge... ORPHA:3309
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... ORPHA:2863
Sweeney-Cox Syndrome
Wide nasal bridge, Micrognathia, Uplifted earlobe, Prominent metopic ridge, Cupped ear, Hearing i... OMIM:617746
Van Maldergem Syndrome 1
Irregular dentition, Dental malocclusion, Atresia of the external auditory canal, Conductive hear... OMIM:601390
Pierpont Syndrome
Brachycephaly, Macrotia, Ventriculomegaly, Chiari malformation, Widely spaced teeth, Abnormal sub... ORPHA:487825
Pyle Disease
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... OMIM:265900
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... OMIM:157170
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Bicoronal synostosis, Anosmia, Cry... OMIM:619718
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Macrotia, High palate, Ventriculomegaly, Plagiocephaly, Decreased testicular size,... OMIM:615433
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Uvula, Bifid
Bifid uvula OMIM:192100
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Maxillonasal Dysplasia
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... ORPHA:1248
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Delayed cranial suture closure, Wide anterior fontanel, Ectopic anus, Wide mouth, Coronal cranios... ORPHA:85199
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... OMIM:273050
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Abnormal dental root morphology, Selective tooth agenesi... ORPHA:49042
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Ventriculomegaly, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes ... ORPHA:163961
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Premature posterior fontanelle clos... ORPHA:488437
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkeratosis, Micr... OMIM:225410
Adenylosuccinate Lyase Deficiency
Brachycephaly, Long philtrum, Short nose, Thin upper lip vermilion, Flat occiput, Anteverted nare... ORPHA:46
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Brachycephaly, Respiratory insufficiency, Convex nasal ridg... ORPHA:93262
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Recurrent a... ORPHA:397715
Neuralgic Amyotrophy
Cleft palate, Narrow mouth, Acrocyanosis ORPHA:2901
Atkin-Flaitz Syndrome
Macrotia, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Broad nasal tip, An... ORPHA:1193
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, High palate, Wide anterior fontanel, Micrognathia, Malar flattening, Wo... ORPHA:85184
Cornelia De Lange Syndrome 5
Retrognathia, Brachycephaly, High palate, Long philtrum, Ventriculomegaly, Widely spaced teeth, D... OMIM:300882
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Zellweger Syndrome
Respiratory insufficiency, High palate, Wide anterior fontanel, Wide nasal bridge, Death in infan... ORPHA:912
Williams-Beuren Region Duplication Syndrome
Brachycephaly, High palate, Decreased response to growth hormone stimulation test, Ventriculomega... OMIM:609757
Craniolenticulosutural Dysplasia
Delayed closure of the anterior fontanelle, High palate, Wide anterior fontanel, Wide nasal bridg... OMIM:607812
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Respiratory distress, Tracheomalacia... OMIM:217980
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Van Maldergem Syndrome 2
Hip subluxation, Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognat... OMIM:615546
Branchiooculofacial Syndrome
Conductive hearing impairment, Premature graying of hair, Micrognathia, Supernumerary nipple, Cle... OMIM:113620
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Pulmonary arterial hypertension, Dilated third ventricle, Mandibular prognathia, Lo... ORPHA:464738
Clark-Baraitser Syndrome
Brachycephaly, High palate, Long philtrum, Wide mouth, Short philtrum, Dolichocephaly, Short nose... OMIM:617752
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Abnormal antihelix morphology, High palate, Micrognathia, Short philtrum, Midface ... ORPHA:1387
Otodental Syndrome
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... ORPHA:2791
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2026
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, High palate, Ventriculomegaly, Dolichocephaly, Midface retrusion, Trigonoc... ORPHA:168624
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar OMIM:604625
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Ventriculomegaly, Brachyturricephaly, Pyloric stenosis, Hydrocephalus, Midface ret... OMIM:218350
Trichothiodystrophy 2, Photosensitive
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor OMIM:616390
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,... ORPHA:1529
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Cutis marmorata, Congenital hip dislocation, Thin upper... OMIM:619719
Split-Hand/Foot Malformation 3
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... OMIM:246560
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening OMIM:613857
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm... ORPHA:2325
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Short philtr... OMIM:617296
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Long philtrum, Chiari malformation, Turricephaly, Microtia, Micrognathia, Hydrocep... ORPHA:171839
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Orofaciodigital Syndrome Type 14
Lobulated tongue, Dilated third ventricle, Dilated fourth ventricle, Bifid tongue, Bilateral cryp... ORPHA:434179
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Tracheobronchomalacia, Cerebellar dysplasia, Plagiocephaly, Sensorineur... OMIM:617751
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Chromosome 22Q11.2 Duplication Syndrome
High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency, Abnormal pinna mo... OMIM:608363
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Delayed eruption of primary teeth, Wide nasal bridge, Glossoptosis... OMIM:616367
Marden-Walker Syndrome
High palate, Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Micrognathia, ... OMIM:248700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Retrognathia, Dilated third ventricle, Macrotia, Sensorineural hearing impairment, Lateral ventri... ORPHA:544488
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Wide nasal bridge, Thick lower lip vermilion, Ev... OMIM:616920
Otosclerosis 10
Otosclerosis OMIM:615589
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Stapes ankylosis, Skull asymmetry, Long philtrum, Wide nasal bridge, Ventriculomeg... OMIM:614701
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Hyperactivity, High palate, Sensorineural hearing impairment, Wide nasal bridge, Lo... OMIM:618342
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Cutis marmorata, Hyperplasia of ... OMIM:614753
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Genu valgum, Conductive hearing impairment, Narrow palate, Wide anterior fon... OMIM:182212
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Depressed nasa... ORPHA:2804
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... OMIM:220200
Hemifacial Atrophy, Progressive
Dental malocclusion, Microtia, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Anonychia With Flexural Pigmentation
Carious teeth, Macular telangiectasia, Convex nasal ridge ORPHA:69125
Fried Syndrome
Macrotia, High palate, Abnormal cerebellum morphology, Hydrocephalus, Short philtrum, Thickened c... ORPHA:85335
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Cornelia De Lange Syndrome 2
Brachycephaly, High palate, Ventriculomegaly, Micrognathia, Cutis marmorata, Thin upper lip vermi... OMIM:300590
Chilton-Okur-Chung Neurodevelopmental Syndrome
Plagiocephaly, Micrognathia, Smooth philtrum, Uplifted earlobe, Agenesis of incisor, Asthma, Doli... OMIM:619841
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Micrognathia, Taurodontia, Abnorm... ORPHA:2751
Fibrochondrogenesis 1
Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Widely patent sagittal sutu... OMIM:228520
Opitz Gbbb Syndrome
Cleft upper lip, High palate, Wide anterior fontanel, Wide nasal bridge, Aspiration, Low-set ears... OMIM:300000
Clark-Baraitser syndrome
Genu valgum, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip ve... OMIM:300602
Acrocallosal Syndrome
Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, S... OMIM:200990
Cleft Soft Palate
Cleft soft palate OMIM:119570
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored... OMIM:601668
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Dental malocclusion, Mandibular prognathia, High palate, Microtia, Spina bifida, M... ORPHA:1327
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Prominent nose, Radioulnar synostosis, Abnormal palate morphology, Carious t... ORPHA:3270
Crouzon Syndrome
Brachycephaly, Sagittal craniosynostosis, Atresia of the external auditory canal, Mandibular prog... OMIM:123500
Meckel Syndrome, Type 10
Dilated fourth ventricle, Cerebellar hypoplasia, Anencephaly, Bifid uvula, Frontal bossing, Abnor... OMIM:614175
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Low-set ears, Microtia, Underdevelo... ORPHA:79113
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... ORPHA:1516
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Midgut malrotation, Convex nasal ridge, Short nasal bridge, Delayed eru... ORPHA:2409
Lujan-Fryns Syndrome
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, At... ORPHA:776
Frontonasal Dysplasia 1
Conductive hearing impairment, Wide nasal bridge, Joint contracture of the hand, Hypoplastic fron... OMIM:136760
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morp... ORPHA:44
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Wide anterior fontanel, Macroglossia OMIM:275100
Orofaciodigital Syndrome Xix
Cleft soft palate, Wide nasal bridge, Microdontia, Additional crus of antihelix, Cupped ear, Thic... OMIM:620107
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Brachycephaly, Narrow mouth, High palate ORPHA:2528
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate, Low-set ea... OMIM:615502
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Microdontia, Abnormality of dental morphology, Hypo... OMIM:272440
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Metopic syno... OMIM:604757
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Widely spaced teeth, Micrognathia, Agene... ORPHA:459061
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Broad nasal tip, Knee flexion contracture OMIM:259610
Anauxetic Dysplasia 3
Retrognathia, Hip subluxation, Genu valgum, Wide anterior fontanel, Oligodontia, Depressed nasal ... OMIM:618853
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Choanal stenosis, Wide anterior fontanel, Humeroradial synostosis, Long philtrum, Coronal cranios... OMIM:207410
Oculodentodigital Dysplasia, Autosomal Recessive
Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso... OMIM:257850
Ramon Syndrome
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... ORPHA:3019
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Large fontanelles, Hearing impairment, Delayed eruption of teeth ORPHA:181393
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, High palate, Low-set ears, Thick lower lip vermilion, Bifid uvula,... OMIM:617412
Pierpont Syndrome
Wide nose, Brachycephaly, Chiari malformation, Widely spaced teeth, Prominent median palatal raph... OMIM:602342
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia o... OMIM:216300
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Micrognathia, Hydrocephalus, Short nose, Median cleft... OMIM:241800
Acromelic Frontonasal Dysplasia
Retrocerebellar cyst, Brachycephaly, Meningocele, Anterior pituitary hypoplasia, Encephalocele, V... ORPHA:1827
Apert Syndrome
Respiratory insufficiency, Convex nasal ridge, Conductive hearing impairment, Ventriculomegaly, E... ORPHA:87
Craniosynostosis And Dental Anomalies
Brachycephaly, Stapes ankylosis, Convex nasal ridge, Conductive hearing impairment, Chiari malfor... OMIM:614188
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Macrotia, Short philtrum, Hypoplasia of the maxilla, Bulbous nose, Cupped ear ORPHA:93945
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Patellar hypoplasia, Abnormal breath sound, Asthma, Micrognathia, Hypoxem... ORPHA:2257
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Bul... OMIM:618737
Developmental And Epileptic Encephalopathy 49
Thick upper lip vermilion, Macrotia, Prominent nose, Ventriculomegaly, Hydrocephalus, Short philt... OMIM:617281
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing OMIM:190320
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed closure of the anterior fontanelle, Macrotia, Widely spaced teeth, Delayed eruption of te... OMIM:619797
Atkin-Flaitz Syndrome
Genu valgum, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip ve... OMIM:300431
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Abnormal nasal septum morphology, Long philtrum, Micrognathia, Velopha... OMIM:619941
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Death in infancy, Micrognathia, Thin upper lip vermilion, Anteverted nares OMIM:619135
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Death in infancy, Micrognathia, Short nose, Recurrent pneumonia, Abnormal palat... ORPHA:1495
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Wide nasal bridge, Micrognathia, Hearing impairment, Dolichocephaly, Cryptorchidis... OMIM:613792
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... OMIM:604213
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Decreased CSF glycine concentration, Cerebellar vermis hypopl... OMIM:610992
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Cutaneous photosensitivity, Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge... ORPHA:2180
17P13.3 Microduplication Syndrome
Wide nose, High palate, Ventriculomegaly, Short nose, Frontal bossing, Narrow mouth, Low-set ears ORPHA:217385
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t... ORPHA:915
Auriculocondylar Syndrome 1
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:602483
Acrofrontofacionasal Dysostosis 2
Wide nose, High palate, Wide anterior fontanel, Low-set ears, Overfolded helix, Posteriorly rotat... OMIM:239710
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Micrognathia, Cleft palate, Choanal atresia, Prominen... OMIM:305450
20P13 Microdeletion Syndrome
Hypoplastic helices, Wide anterior fontanel, Thin upper lip vermilion, Smooth philtrum, Abnormal ... ORPHA:313781
Dubowitz Syndrome
Delayed cranial suture closure, Respiratory insufficiency, Abnormal antihelix morphology, Delayed... ORPHA:235
Cebalid Syndrome
Brachycephaly, High palate, Depressed nasal ridge, Plagiocephaly, Turricephaly, Midface retrusion... OMIM:618774
Cleidocranial Dysplasia
Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Large fontanelles, Cleft palate, H... ORPHA:1452
Pettigrew Syndrome
Mandibular prognathia, Prominent nose, Ventriculomegaly, Wide mouth, Sensorineural hearing impair... OMIM:304340
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Micrognathia... OMIM:214100
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Gapo Syndrome
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Wid... OMIM:230740
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Delayed eruption of teeth... OMIM:613849
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Low-set ears, Exag... OMIM:618506
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition ORPHA:2776
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Macrotia, Lateral ventricle dilatation, Cerebellar hypoplasia, Microgna... ORPHA:3078
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Thin verm... OMIM:156510
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Midface retrusion, Tooth agenesis, Cleft palate, Choanal atresia, Narrow palate, Hydrocephalus, D... ORPHA:1555
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia ORPHA:93950
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormal antihelix morphology, Abnormal nostril morphology, Depressed na... ORPHA:178303
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Cleft upper lip, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Anteverted nare... OMIM:300958
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Camptodactyly of finger, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... ORPHA:2521
Fetal Akinesia Deformation Sequence 4
Retrognathia, Prenatal death, High palate, Wide nasal bridge, Micrognathia, Low-set ears, Neonata... OMIM:618393
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi... ORPHA:71267
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Joint dislocation, Conductive hearing impairment, Long philtrum, Wide nasal bridge, ... ORPHA:502
48,Xxyy Syndrome
Broad jaw, Ventriculomegaly, Delayed eruption of teeth, Thick lower lip vermilion, Decreased test... ORPHA:10
Raine Syndrome
Brachycephaly, Plagiocephaly, Microdontia, Micrognathia, Midface retrusion, Cleft palate, Gingiva... OMIM:259775
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Brachycephaly, Mandibular prognathia, Wide mouth, Thick lower lip verm... OMIM:309545
Nance-Horan Syndrome
Mandibular prognathia, Prominent nose, Supernumerary tooth, Prominent nasal bridge, Protruding ea... ORPHA:627
20P12.3 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed nasal bridge, Na... ORPHA:261295
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Convex nasal ridge, High palate, Long philtrum, Decreased testicular size, Microgn... ORPHA:251019
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Micrognathia, Short philtrum, Downtu... ORPHA:52022
14Q11.2 Microdeletion Syndrome
High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,... ORPHA:261120
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Ventricul... OMIM:618205
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... OMIM:601216
Congenital Disorder Of Glycosylation, Type Iu
High palate, Cerebellar hypoplasia, Death in infancy, Micrognathia, Respiratory distress, Short n... OMIM:615042
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Wide mouth, Macroglossia, ... OMIM:618729
Stickler Syndrome Type 1
Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Cleft pal... ORPHA:90653
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Macrotia, High palate, Ventriculomegaly, Wide nasal bridge, Short nose, Hypoplasia... OMIM:218000
Neurofaciodigitorenal Syndrome
Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow, Hypoplasia of the p... ORPHA:2673
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Periodontitis, Hydrocephalus, Hearing impairment, Abnormality of the dentition ORPHA:1008
Ritscher-Schinzel Syndrome 1
Brachycephaly, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus... OMIM:220210
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Jaundice, Hydrocephalus, Death in infancy OMIM:129850
Holoprosencephaly 7
Wide nasal bridge, Midface retrusion, Lobar holoprosencephaly, Median cleft lip, Holoprosencephal... OMIM:610828
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, High palate, Ventriculomegaly, Plagiocephaly, Cleft palate, Agenesis of corpus cal... OMIM:618603
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Ventriculomegaly, Chiari malformation, Bifid uvula, Midface retrusion, G... OMIM:123790
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Macrotia, High palate, Long philtrum, Wide nasal bridge, Cerebellar hyp... OMIM:300749
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Underdeveloped nasal alae, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Att... OMIM:618825
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Absent nasal bridge, Natal tooth, Microtia, Micrognathia, Anal atresia, L... OMIM:617925
Acrocraniofacial Dysostosis
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Natal tooth, Craniosy... OMIM:201050
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, Macrotia, High palate, Long philtrum, Cerebellar hypoplasia, Downturned corners of... OMIM:608027
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Ectodermal dysplasia, Wide nasal bridge OMIM:262020
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Recombinant Chromosome 8 Syndrome
Brachycephaly, Ventriculomegaly, Low-set ears, Thick lower lip vermilion, Micrognathia, Midface r... OMIM:179613
Smith-Magenis Syndrome
Brachycephaly, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Ventriculom... OMIM:182290
Hypomandibular Faciocranial Dysostosis
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips,... OMIM:241310
Laron Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Abnormality of the elbow, Delayed e... ORPHA:633
Cerebrooculonasal Syndrome
Brachycephaly, Conductive hearing impairment, Ventriculomegaly, Cleft palate, Posteriorly rotated... OMIM:605627
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, ... OMIM:616331
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Macroglossia, Wormian bones, Delayed eruption of teeth OMIM:614450
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Abnormal antihelix morphology, Convex nasal ridge, Turricephaly, Microtia, Microgn... ORPHA:2145
Perlman Syndrome
Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Dolichocephaly, Abnormal up... ORPHA:2849
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Zimmermann-Laband Syndrome
Wide nose, High palate, Sensorineural hearing impairment, Wide mouth, Micrognathia, Hypodontia, B... ORPHA:3473
Saul-Wilson Syndrome
Convex nasal ridge, Sensorineural hearing impairment, Wide anterior fontanel, Micrognathia, Promi... OMIM:618150
16P13.2 Microdeletion Syndrome
Brachycephaly, Dilated third ventricle, Plagiocephaly, Ventriculomegaly, Asthma, Hydrocephalus, C... ORPHA:500055
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge OMIM:618302
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Underdeveloped nasal alae, Brachycephaly, Encephalocele, Coronal craniosynostosis,... ORPHA:228390
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Protrudi... ORPHA:85279
Acrofacial Dysostosis, Palagonia Type
Micrognathia, Oligodontia, Supernumerary tooth, Spina bifida occulta, Posteriorly rotated ears, M... ORPHA:1787
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Hydrolethalus Syndrome 2
Ventriculomegaly, Micrognathia, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus call... OMIM:614120
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Deep philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Prominent nasal tip, S... OMIM:615834
Restrictive Dermopathy 2
Cyanosis, Convex nasal ridge, Hypoplastic facial bones, Respiratory distress, Microretrognathia, ... OMIM:619793
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Long philtrum, Wide nasal bridge, Short no... OMIM:616430
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Apnea, Depressed nasal bridge, Large fontanelles, Anteverted nares OMIM:614883
Aicardi Syndrome
Cleft upper lip, Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Spin... OMIM:304050
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Mi... ORPHA:363417
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy OMIM:258320
Coffin-Siris Syndrome 6
Retrognathia, Conductive hearing impairment, Deep philtrum, Micrognathia, Short philtrum, Depress... OMIM:617808
3Mc Syndrome 2
Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Craniosynostosis, Promin... OMIM:265050
Smith-Magenis Syndrome
Brachycephaly, Cleft upper lip, Mandibular prognathia, Conductive hearing impairment, Delayed eru... ORPHA:819
Even-Plus Syndrome
Brachycephaly, High palate, Depressed nasal ridge, Microtia, Hypodontia, Midface retrusion, Anal ... OMIM:616854
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Broad jaw, Thickened calvaria, Craniosynostosis, Hearing impairment ORPHA:178377
Pycnodysostosis
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Prominent nose, Carious teeth, ... ORPHA:763
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Respiratory... ORPHA:166272
Mpdu1-Cdg
Thin vermilion border, Absence of acoustic reflex, Wide anterior fontanel, Prominent frontal sinuses ORPHA:79323
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Low-set ears, Short nose, Intestinal ma... OMIM:222448
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Mandibular prognathia, Plagiocephaly, Depressed nasal ridge, Conductive hearing im... OMIM:618672
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Short philtrum, Protruding ear, Prominent metopic ridge, Cleft palate ORPHA:85317
German Syndrome
Brachycephaly, Hearing abnormality, High palate, Wide nasal bridge, Micrognathia, Midface retrusi... ORPHA:2077
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Cutis marmorata, Hydrocephalus, Ventriculomegaly OMIM:615937
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... ORPHA:370959
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Wide anterior fontanel, Long philtrum, Prominent nasal bridge, Pr... ORPHA:357058
Auriculocondylar Syndrome
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... ORPHA:137888
Monosomy 18P
Brachycephaly, Abnormal antihelix morphology, Macrotia, Wide nasal bridge, Hypodontia, Micrognath... ORPHA:1598
Nager Syndrome
Respiratory insufficiency, Non-midline cleft lip, Wide mouth, Microtia, Abnormal nasal morphology... ORPHA:245
Cofs Syndrome
Camptodactyly of finger, Cutaneous photosensitivity, Sensorineural hearing impairment, Wide nasal... ORPHA:1466
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Ventriculomegaly, Aganglionic megacolon, Microretrognathia, Partial age... ORPHA:171680
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hyperactivity, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Intellectual Developmental Disorder, X-Linked 91
High palate, Macrodontia, Short nose OMIM:300577
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Agnathia-Otocephaly Complex
Wide nose, Mandibular aplasia, Conductive hearing impairment, Micrognathia, Respiratory distress,... OMIM:202650
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Skull asymmetry, Sensorineural hearing impairment, Bifid uvula, Hydrocephalus, Cuti... OMIM:612938
Edinburgh Malformation Syndrome
Respiratory insufficiency, Micrognathia, Hydrocephalus, Short nose, Frontal bossing, Downturned c... ORPHA:1895
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Sensorineural hearing impairment, Lateral ventricle dilatation, Hydrocep... OMIM:619575
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Wide nose, High palate, Recurrent pneumonia, Persistence of primary teeth, Erythema, Craniosynost... OMIM:147060
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate OMIM:300676
Orofaciodigital Syndrome Iii
Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Low-set ears, Bulbou... OMIM:258850
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Microdontia, Radioulnar synostosis, Carpal synostosis, Diastema, Bilat... OMIM:605282
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Downturn... OMIM:615761
Polyrrhinia
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal third ventricle morphol... ORPHA:141091
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Microdontia, Abnorm... ORPHA:1307
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Macrotia, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Short nose, Abnormal palate mo... ORPHA:2701
Acrootoocular Syndrome
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Delayed eru... ORPHA:2980
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, High palate, Micrognathia, Oligodontia, Frontal bossing, Cryptorchidism, Umbilical... OMIM:600325
Treacher Collins Syndrome 4
Choanal stenosis, Conductive hearing impairment, Micrognathia, Malar flattening, Respiratory fail... OMIM:618939
Temple Syndrome
Wide nose, High palate, Decreased testicular size, Micrognathia, Bifid uvula, Short philtrum, Hyd... OMIM:616222
Zaki Syndrome
Wide nose, Dilated fourth ventricle, High palate, Wide mouth, Wide nasal bridge, Micrognathia, Sh... OMIM:619648
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Craniosynostosis 3
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Right unicoronal syno... OMIM:615314
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Breath-Holding Spells
Cyanosis OMIM:607578
Achondroplasia
Short nasal bridge, Wide anterior fontanel, Central sleep apnea, Flat acetabular roof, Hypoxemia,... ORPHA:15
Fatty Acyl-Coa Reductase 1 Deficiency
Macrotia, Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth phi... ORPHA:438178
Fetal Trimethadione Syndrome
Brachycephaly, High palate, Micrognathia, Midface retrusion, Short nose, Depressed nasal bridge, ... ORPHA:1913
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Anotia, Microtia OMIM:251800
Trisomy 4P
Camptodactyly of finger, Abnormal antihelix morphology, Macrotia, Depressed nasal bridge, Abnorma... ORPHA:1738
Coffin-Siris Syndrome 2
Wide nose, Hyperactivity, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thic... OMIM:614607
Parc Syndrome
Cleft palate OMIM:600331
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide nasal bridge, Delayed eruption of teeth, Wid... ORPHA:137834
Arthrogryposis, Distal, Type 1C
Retrognathia, Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hip c... OMIM:619110
Fibrochondrogenesis
Camptodactyly of finger, Respiratory insufficiency, Hearing abnormality, Wide anterior fontanel, ... ORPHA:2021
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, Sho... OMIM:601224
Dysostosis, Stanescu Type
Convex nasal ridge, Abnormal nasal morphology, Macroglossia, Hypoplasia of the maxilla, Narrow na... ORPHA:1798
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Brachycephaly, Macrotia, High palate, Long philtrum, Wide nasal bridge, Ventriculom... OMIM:617452
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Esophageal stricture, Sensorineural hearing impairment, Delayed eruption of te... OMIM:616029
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Extra-axial cerebrospinal fluid accumulation, High palate, Long philtrum, Wide nasal bridge, Vent... OMIM:619383
Cutaneous Telangiectasia And Cancer Syndrome, Familial