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
increased heart weight Msx1tm1b(KOMP)Wtsi HET Early adult 1.11×10-05
preweaning lethality, complete penetrance Msx1tm1b(KOMP)Wtsi HOM   Early adult 0.00
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
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

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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral 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 lip, Cleft palate OMIM:600625
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate 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
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... 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, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... ORPHA:1832
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Rhizomelic Syndrome
Wide anterior fontanel, Hip dislocation, Micrognathia OMIM:268250
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... OMIM:610829
Lissencephaly, X-Linked, 2
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa... OMIM:300215
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Wide ant... OMIM:614541
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Cryptorchidism, Brachycepha... OMIM:619244
Larsen-Like Syndrome
Joint dislocation, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis me... OMIM:608545
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c... OMIM:619339
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Wide anterior fo... OMIM:269300
Tricho-Dento-Osseous Syndrome
Frontal bossing, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesi... ORPHA:3352
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Abnormalit... ORPHA:3098
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous... OMIM:616788
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... OMIM:261800
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormality of... ORPHA:2412
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker... ORPHA:1538
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontan... OMIM:601853
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... OMIM:252100
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Peroxisome Biogenesis Disorder 7A (Zellweger)
Large posterior fontanelle, Death in infancy, Posteriorly rotated ears, Wide anterior fontanel, J... OMIM:614872
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Microretrognathia, Frontal bossing, Agenesis of cerebellar vermis, Depr... OMIM:220220
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Convex nasal ridge, Craniosynostosis OMIM:600252
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Microtia, Increased... OMIM:618761
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Wide nasal... OMIM:618577
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... OMIM:614669
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptor... ORPHA:1695
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis ORPHA:718
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dow... OMIM:613443
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Hyperactivity, Tented upper lip vermilion, Micrognathia, Broad nasal tip, Hi... ORPHA:166108
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition ORPHA:2222
Acrofacial Dysostosis Syndrome Of Rodriguez
Posteriorly rotated ears, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge... OMIM:201170
Brachydactyly, Type B1
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ... OMIM:113000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Abnormality of th... ORPHA:163649
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Prominent crus of helix, Long nose, Cleft of chin, Parietal foramina, ... OMIM:101400
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Pro... OMIM:613684
Perching Syndrome
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Dysphagia OMIM:617055
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... OMIM:166750
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Abnormal cerebellum morphology, Hyd... ORPHA:1532
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b... ORPHA:2025
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Depressed nasal bridge, Anteverted nares, Micrognathia OMIM:618272
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Brachycephaly, Anteri... OMIM:211380
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Prominent nasal bridge, Abnor... ORPHA:364577
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... OMIM:620099
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Progeroid Syndrome, Petty Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Pr... ORPHA:2963
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Excessive wr... OMIM:219200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... ORPHA:2015
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Wormian bones, Pulmonary arterial hype... OMIM:259420
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Large ... OMIM:263210
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc... ORPHA:207
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, High palate, Short philtrum, Median cleft palate, Prominent metop... OMIM:617746
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Excessive wrinkling of palmar skin, Posteriorly rotate... ORPHA:487825
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi... ORPHA:2863
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, Anosmia, Microdontia, Anterior ... OMIM:619718
Tetrasomy 5P
Respiratory distress, Cyanosis, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide an... ORPHA:3309
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Van Maldergem Syndrome 1
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... OMIM:601390
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... OMIM:157170
Ethanolaminosis
Cardiomegaly OMIM:227150
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Cutis marmorata, Decreased response to growth hormone stimulation t... OMIM:609757
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Uvula, Bifid
Bifid uvula OMIM:192100
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Anal atresia, Abnormal dental morphology, Abnormal dental enamel morp... ORPHA:85199
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth ORPHA:2901
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Anteverted nares, Brachycephaly, Low-set ears, Long philt... ORPHA:46
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dandy-Walker malformation, Frontal bossing, Posteriorly rotated ears, Thick ... ORPHA:163961
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Doli... OMIM:617752
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... ORPHA:488437
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontanelle, Micrognathia, Fron... OMIM:225410
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypoplasia ... ORPHA:93262
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Micrognathia, Tachypnea, Dilated th... ORPHA:397715
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Wormian bones, Malar... ORPHA:85184
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... OMIM:618342
Cornelia De Lange Syndrome 5
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Broad nasal tip, ... OMIM:300882
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Anteverted nares,... OMIM:217980
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Prominent nasal tip, Tented upper lip vermilion, Exaggerated cupid's bow, ... ORPHA:464738
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... ORPHA:1193
Zellweger Syndrome
Death in infancy, Depressed nasal bridge, Malabsorption, Micrognathia, Wide anterior fontanel, Py... ORPHA:912
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... OMIM:615546
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Hamar... ORPHA:2751
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, De... OMIM:607812
Branchiooculofacial Syndrome
Micrognathia, Premature graying of hair, Conductive hearing impairment, Hypoplastic superior heli... OMIM:113620
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Open bite, High palate, Dolichocephaly, Trigonocephaly, Midface retrusion,... ORPHA:168624
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... ORPHA:2791
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Hig... OMIM:608363
Trichothiodystrophy 2, Photosensitive
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor OMIM:616390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Brachycephaly, Plagioc... OMIM:617296
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Prematurely aged appearance, Micrognat... ORPHA:1387
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Abnormal location of ears, Brac... OMIM:218350
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... OMIM:614753
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, P... OMIM:617751
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, High palate, Short philtr... OMIM:615433
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Celiac disease, Macrotia, Sensorineural hea... ORPHA:544488
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Cryptorch... ORPHA:171839
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric stenosis, Cl... OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Underdevelo... OMIM:618825
Otosclerosis 10
Otosclerosis OMIM:615589
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, High palate, Short philtrum, Macrotia, Thickened c... ORPHA:85335
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrota... OMIM:614701
Heart And Brain Malformation Syndrome
Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Ant... OMIM:616920
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
W Syndrome
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... ORPHA:2804
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami OMIM:141300
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Congenital hip dislocation, Apnea, Delayed closure of the anterior fon... OMIM:619797
Opitz Gbbb Syndrome
Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Posteriorly rotated e... OMIM:300000
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Cutis marmo... OMIM:300590
Anonychia With Flexural Pigmentation
Carious teeth, Macular telangiectasia, Convex nasal ridge ORPHA:69125
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... ORPHA:79113
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Genu recurvatum, Anteverted nares, Broad nasal tip, Thick lower... OMIM:300602
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Cerebellar vermis hypoplasia, Anterior pituit... OMIM:619841
Cleft Soft Palate
Cleft soft palate OMIM:119570
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... ORPHA:2409
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal r... OMIM:620370
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel, Depressed nasal bridge OMIM:275100
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Broad nasal tip, Dental ma... OMIM:619719
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Fibrochondrogenesis 1
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Clef... OMIM:228520
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Anteverted nares, Dep... ORPHA:1327
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p... OMIM:615502
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Hearing abnormality, Promine... ORPHA:3270
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Sensorineural hearin... ORPHA:44
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... OMIM:136760
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Dolichocephaly, Hydro... ORPHA:1516
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Micrognathia... OMIM:241800
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, High palate, Brachycephaly, Narrow mouth ORPHA:2528
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... OMIM:604757
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... OMIM:614886
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the... ORPHA:776
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... ORPHA:2257
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Short nose, Brachycephaly, ... OMIM:602342
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, ... ORPHA:85279
Ramon Syndrome
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Sensori... ORPHA:3019
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microretrognathia, Low-set, posteriorly rotated ears, Hamartoma of tong... ORPHA:434179
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Hypodontia ORPHA:63442
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip,... ORPHA:1827
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... OMIM:614188
Anauxetic Dysplasia 3
Depressed nasal bridge, Wide anterior fontanel, Genu valgum, Oligodontia, Retrognathia, Hip sublu... OMIM:618853
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Agenesis of corp... ORPHA:87
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Humer... OMIM:207410
2Q32Q33 Microdeletion Syndrome
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Convex nasal ridge, Brac... ORPHA:251019
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... OMIM:182212
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Smooth philtru... OMIM:618737
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Widely spaced teeth, Dolichocephaly, Microdontia OMIM:190320
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Micrognath... OMIM:619941
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Filippi Syndrome
Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short... OMIM:272440
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Ventriculomegaly, Micrognathia, Recurrent pneumonia, Protruding ear, Narrow mou... ORPHA:1495
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Anteverted n... OMIM:613792
Cebalid Syndrome
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed na... OMIM:618774
20P13 Microdeletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna mo... ORPHA:313781
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypop... ORPHA:178303
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Anteverted nares, Wide mouth, Delayed eruption... OMIM:618506
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow pal... OMIM:617808
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathia, Wide anterior fontanel OMIM:619135
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Protrudi... OMIM:214100
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, High palate, Low-set ears, Narrow mouth, Short nose, Ventriculomegaly ORPHA:217385
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... ORPHA:2180
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... OMIM:257850
Opitz-Kaveggia Syndrome
Dental crowding, Micrognathia, Prominent nose, Anteriorly placed anus, Simple ear, Cleft upper li... OMIM:305450
Acrofrontofacionasal Dysostosis 2
Wide nose, Posteriorly rotated ears, Wide anterior fontanel, High palate, Low-set ears, Overfolde... OMIM:239710
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of f... ORPHA:915
Dubowitz Syndrome
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... ORPHA:235
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Progressive hearing impairment, ... OMIM:613849
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Flat occiput, Apnea, Abnormal dental enamel morphology, Car... ORPHA:10
Gapo Syndrome
Prominent scalp veins, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior ... OMIM:230740
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... OMIM:156510
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hy... ORPHA:459061
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tr... ORPHA:3078
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath... OMIM:602483
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ... OMIM:300958
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Agenesis of corpus ca... OMIM:618603
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Abnormal pinna morphology, An... OMIM:614175
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition ORPHA:2776
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... OMIM:618729
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Short philtr... ORPHA:71267
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... OMIM:309545
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, High palate, Prenatal death, Low-set e... OMIM:618393
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... OMIM:123500
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly,... OMIM:218000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Anteriorly placed anus, Thickened helices, Cloverleaf skull, Anteverted nar... ORPHA:1555
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Narrow mouth, Thi... ORPHA:261295
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Abnormality of th... ORPHA:502
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia,... ORPHA:261120
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Mac... OMIM:615574
Potocki-Shaffer Syndrome
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... ORPHA:52022
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Long p... ORPHA:90653
Snijders Blok-Campeau Syndrome
Frontal bossing, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth... OMIM:618205
Nance-Horan Syndrome
Mandibular prognathia, Prominent nasal bridge, Abnormality of the dentition, Prominent nose, Supe... ORPHA:627
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... ORPHA:2673
Raine Syndrome
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choanal stenosis... OMIM:259775
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... OMIM:615042
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormality of the dentition, Hydrocephalus, Gingivitis, Periodontitis, Hearing impairment ORPHA:1008
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus, Jaundice OMIM:129850
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Br... OMIM:300749
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Hydr... OMIM:220210
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... OMIM:610828
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin... OMIM:241310
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenes... OMIM:123790
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis... ORPHA:1452
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Large posterior fontanelle, Abnormal pinna morphology, Depressed nasal bridge, Hamar... OMIM:617925
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Depressed nasal bridge, Hypoplasia of the pons, High, narrow palate, Brachyce... OMIM:608027
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, A... ORPHA:293939
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear OMIM:618302
Smith-Magenis Syndrome
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed n... ORPHA:819
Laron Syndrome
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Prema... ORPHA:633
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High palate, Conductive... OMIM:605627
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Mic... OMIM:179613
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Bulbous nose, Gin... ORPHA:3473
Perlman Syndrome
Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Sh... ORPHA:2849
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Saul-Wilson Syndrome
Narrow nasal bridge, Prominent superficial veins, Progeroid facial appearance, Micrognathia, Wide... OMIM:618150
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Abnormal antihelix mor... ORPHA:2145
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... OMIM:182290
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Con... OMIM:619793
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... ORPHA:363417
Acrofacial Dysostosis, Palagonia Type
Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, O... ORPHA:1787
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation OMIM:614450
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum, Wide ... OMIM:615834
Peroxisome Biogenesis Disorder 11A (Zellweger)
Anteverted nares, Apnea, Depressed nasal bridge, Wide anterior fontanel, Large fontanelles OMIM:614883
Even-Plus Syndrome
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Brachycephaly, Microtia, High... OMIM:616854
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Conductive hearing impairment, Agl... OMIM:202650
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal ... ORPHA:228390
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... ORPHA:245
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Respiratory distress, Depressed nasal bridge, Short ... ORPHA:166272
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Cleft palate, Protruding ear, Short philtrum ORPHA:85317
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Hiatu... OMIM:304050
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow movement, C... OMIM:265050
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Monosomy 18P
Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downturned corners ... ORPHA:1598
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridge,... OMIM:618672
Cofs Syndrome
Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Abnormal nasal ... ORPHA:1466
Zaki Syndrome
Dilated fourth ventricle, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia... OMIM:619648
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Cutis marmorata, Ventriculomegaly OMIM:615937
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge OMIM:300676
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Short nose, High palate OMIM:300577
Mpdu1-Cdg
Wide anterior fontanel, Thin vermilion border, Absence of acoustic reflex, Prominent frontal sinuses ORPHA:79323
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Brachycephaly, Thickened calvaria, Hearing impairment ORPHA:178377
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Aganglionic megacolon,... ORPHA:171680
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... OMIM:222448
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Wide nose, Craniosynostosis, Persistence of primary teeth, Erythema, Recurrent pneumonia, High pa... OMIM:147060
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Progeroi... ORPHA:357058
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Respiratory insu... ORPHA:1895
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Asthma, Brachycephaly, Plagiocephaly, Dilated third ventricle, Ven... ORPHA:500055
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Wi... ORPHA:3338
Treacher Collins Syndrome 4
Respiratory failure requiring assisted ventilation, Micrognathia, Cleft palate, Choanal stenosis,... OMIM:618939
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Overfol... OMIM:619149
German Syndrome
Depressed nasal bridge, Micrognathia, Cryptorchidism, Hearing abnormality, Wide nasal bridge, Oro... ORPHA:2077
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bulbous nose, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid... OMIM:258850
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Bila... OMIM:605282
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia... OMIM:615761
Acrootoocular Syndrome
Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2980
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Wide anterior fontanel... ORPHA:457279
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Cutis marmorata, Protruding tongue, Cryptorchidism, Hydrocephalus, Sensorineura... OMIM:612938
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Low-set ears OMIM:620062
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Prominent nasal bridge, ... ORPHA:1307
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Flat occiput, Abnormal pinna morphology, Prominent nasal bridge, Crypto... OMIM:617452
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font... OMIM:617802
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... ORPHA:763
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Thin upper lip vermilion, Dandy-Walker malformation, Depressed nasal bridge, ... ORPHA:438178
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Anteverted nares, Flat occ... OMIM:619383
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Brachycephaly, Cleft pal... OMIM:600325
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, T... ORPHA:1106
Temple Syndrome
Frontal bossing, Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... OMIM:616222
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Asthma, Hypodo... OMIM:616029
Pfeiffer Syndrome Type 2
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal a... ORPHA:93259
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Wide nose, Hyperactivity, Abnormal pinna morphology, Anteverted nares,... OMIM:614607
Trisomy 4P
Smooth philtrum, Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of fing... ORPHA:1738
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Brachycephaly, High palate, Abnormal helix morphology, Low-... ORPHA:1913
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus... ORPHA:2701
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Telangiectasia, Livedo, Conical incisor, Facial telangiectasia, Enamel hypoplasia,... OMIM:614564
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Micrognathia,... ORPHA:2780
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Camptodactyly of finger, Cleft lip, Elbow flexion contracture, Clef... OMIM:619110
Parc Syndrome
Cleft palate OMIM:600331
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Depre... ORPHA:137834
Fibrochondrogenesis
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide anterior fontanel, Hearin... ORPHA:2021
Breath-Holding Spells
Cyanosis OMIM:607578
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... ORPHA:2143
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... OMIM:614744
Peho-Like Syndrome
Cerebellar atrophy, Ventriculomegaly, Open mouth, Retrognathia, Short nose OMIM:617507
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Chi... OMIM:619575
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Potocki-Shaffer Syndrome
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Dow... OMIM:601224
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type