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
cleft palate Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal facial morphology Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
decreased thigmotaxis Msx1tm1b(KOMP)Wtsi HET Early adult 5.97×10-05
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

Download data as:  TSV  XLS

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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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thalamus 0.0%
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
urinary bladder 0.0%
uterus 0.0%
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 1.5% (6 of 400)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)

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

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

11 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

2 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
Torus Palatinus And Torus Mandibularis
Abnormality of the mouth, Torus palatinus OMIM:189700
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Low-set ears, Abnormality of the middle ear ossicles OMIM:221300
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Cleft Lip/Palate
Recurrent otitis media, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors... ORPHA:199306
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
External ear malformation, Conductive hearing impairment, Abnormality of the stapes OMIM:124490
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, High palate, Short philtrum, Pointed chin, Agenesis of corpus callosum, Long ph... OMIM:619244
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Low-set ears, Gingival fibromatosis, Respiratory failure, Micrognathia, Dy... ORPHA:1832
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Cleft Velum
Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Conductive hearing impai... ORPHA:99772
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... ORPHA:401942
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Dolichocephaly, Oblitera... ORPHA:3352
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Cryptorchidism, Mic... OMIM:610829
Rhizomelic Syndrome
Wide anterior fontanel, Hip dislocation, Micrognathia OMIM:268250
Larsen-Like Syndrome
Dental malocclusion, Recurrent otitis media, Low-set ears, Conductive hearing impairment, Joint d... OMIM:608545
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Wormian bones, Bifid nasal... OMIM:252100
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Prominent occiput, Popliteal pterygium, Low-set ears, Micrognathia, Ante... OMIM:619339
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Adenylosuccinate Lyase Deficiency
Long philtrum, Low-set ears, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth ... ORPHA:46
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Wormian bones, Genu varum, Low-set ears, Carious teeth, Mi... OMIM:269300
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Dyssegmental Dysplasia With Glaucoma
Dolichocephaly, Elbow flexion contracture, Malar flattening, Wide anterior fontanel, Cleft palate OMIM:601561
Orofacial Cleft 15
Bilateral cleft lip, Bulbous nose, Cryptorchidism, Low-set ears, Midface retrusion, Palate fistul... OMIM:616788
Chromosome 16Q22 Deletion Syndrome
High palate, Wormian bones, Prominent metopic ridge, Low-set ears, Sensorineural hearing impairme... OMIM:614541
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dandy-Walker Malformation With Postaxial Polydactyly
Dolichocephaly, Dilated fourth ventricle, Low-set ears, Wide nasal bridge, Dandy-Walker malformat... OMIM:220220
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Bruising susceptibility, Delayed closure of the anterior fontanelle, Hypodontia, Everted lower li... OMIM:225410
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Hypoplasia of the corpus callosum, Unilambdoid synostosis, Agenesis of corpus call... OMIM:618577
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Cerebellar hypoplasia, Micrognathia, Dandy-Walker malformation, Frontal bossing, ... ORPHA:1538
Pycnodysostosis
Prominent occiput, Narrow palate, Wormian bones, Hypodontia, Carious teeth, Micrognathia, Delayed... OMIM:265800
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Lissencephaly, X-Linked, 2
High palate, Long philtrum, Low-set ears, Micrognathia, Thin upper lip vermilion, Wide anterior f... OMIM:300215
Non-Distal Trisomy 10Q
High palate, Cryptorchidism, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Micro... ORPHA:1695
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Glossoptosis, Neonatal respiratory... OMIM:261800
Rhizomelic Syndrome, Urbach Type
High palate, Abnormality of the tongue, Micrognathia, Abnormality of the knee, Wide anterior font... ORPHA:3098
Auriculocondylar Syndrome 3
Bifid uvula, Question mark ear, Micrognathia, Glossoptosis, Retrognathia, Bilateral conductive he... OMIM:615706
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Gómez-López-Hernández Syndrome
Thin vermilion border, Low-set ears, Abnormal cerebellum morphology, Midface retrusion, Turriceph... ORPHA:1532
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Small earlobe, Underdeveloped nasal alae, Agenesis of central incisor, Everted lo... ORPHA:364577
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Micrognathia, Pulmonary arterial hypertension, F... OMIM:259420
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Upper airway obstruction,... ORPHA:141152
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Anteverted nares, Dilated fourth ventricle, Low-set ears, Cerebellar hypopl... OMIM:617751
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Hearing abnormality, Abnormal palate morphology, Prominence of the premaxilla, Cong... ORPHA:2412
Myopathy, Congenital, Bailey-Bloch
High palate, Restrictive ventilatory defect, Low-set ears, Cryptorchidism, Conductive hearing imp... OMIM:255995
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Wormian bones, Progressive hearing impairment, Delayed eruption of tee... OMIM:613849
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Microretrognathia, Long philtrum, Short nose OMIM:218010
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Vertebral fusion, Delayed cranial suture closure, Wide anter... OMIM:113000
Saethre-Chotzen Syndrome
Long nose, Plagiocephaly, Skull asymmetry, Lambdoidal craniosynostosis, Low-set ears, Coronal cra... OMIM:101400
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, High palate, Short philtrum, Micrognathia, Microcephaly, Malar flat... ORPHA:217340
Gomez-Lopez-Hernandez Syndrome
High palate, Wormian bones, Skull asymmetry, Craniosynostosis, Low-set ears, Midface retrusion, M... OMIM:601853
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate OMIM:600252
Pallister W Syndrome
Broad nasal tip, Broad uvula, Agenesis of central incisor, Wide nasal bridge, Submucous cleft har... OMIM:311450
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormality of cranial sutures, Long philtrum, Micrognathia, Anterior plagiocephaly,... ORPHA:163649
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Delayed eruption of teeth, Dolichocephaly, Coronal... OMIM:614188
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Pierpont Syndrome
Abnormal cortical gyration, Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Thi... ORPHA:487825
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Bulbous nose, Micrognathia, Brachycephaly, Bifid nasal tip, Prominent metopic rid... OMIM:275595
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Plagiocephaly, Abnormal palate morphology, Coronal craniosynostosis, Parietal foram... ORPHA:85199
Isolated Pierre Robin Syndrome
Micrognathia, Upper airway obstruction, Glossoptosis, Neonatal respiratory distress, Cleft palate ORPHA:718
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Sweeney-Cox Syndrome
Narrow mouth, High palate, Short philtrum, Cupped ear, Prominent metopic ridge, Low-set ears, Mic... OMIM:617746
Acromelic Frontonasal Dysostosis
Broad nasal tip, Cleft upper lip, Agenesis of corpus callosum, Choroid plexus cyst, Bifid nasal t... OMIM:603671
Auriculocondylar Syndrome 2
Narrow mouth, Apnea, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the... OMIM:614669
Holoprosencephaly 5
Central diabetes insipidus, High palate, Semilobar holoprosencephaly, Trigonocephaly, Holoprosenc... OMIM:609637
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival fibromatosis, Delayed eruption of teeth, Gingival over... ORPHA:2027
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Everted lower lip vermilion, Reduced subcutaneous adipose tissue, Lo... ORPHA:2963
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Cerebellar atrophy, Anteverted nares, Widely spaced teeth, Microcephaly, Mandib... OMIM:618006
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Bulbous nose, Enamel hypoplasia, Low-set ears, Wide nasal bridge, Depressed nasal br... OMIM:600991
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Frontal bossing, Glossoptosis, Easily subluxated first metac... OMIM:311895
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Short philtrum, Open mouth, Thick upper lip vermilion, Ventriculomegaly, ... OMIM:617281
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Short philtrum, Low-set ears, Micrognathia, Posteriorly rotated ears, ... OMIM:201170
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Anteverted nares, Craniosynostosis, Long philtrum, Low-set ears, Cryptorchidism... ORPHA:171839
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wormian bones, Micrognathia, Malar flattening, Thin calvarium, Obtuse angle of mandi... ORPHA:85184
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Cryptorchidism, Microdontia, Supernumerary tooth, Anterior plagiocephaly, Bicoronal syno... OMIM:619718
Craniosynostosis 2
Craniosynostosis, Cleft soft palate, Supernumerary tooth, Frontal bossing, Turricephaly, Unicoron... OMIM:604757
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Clef... ORPHA:2015
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Low-set ears, Episodic tachypnea, Thick nasal alae, Ventriculomegaly,... ORPHA:163961
Otodental Dysplasia
Tooth ankylosis, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Prematurely aged appearance, Cryptorchidism, Everted lower lip vermi... ORPHA:1387
Intellectual Disability, Birk-Barel Type
Short philtrum, Dolichocephaly, Open mouth, Tented upper lip vermilion, Micrognathia, High, narro... ORPHA:166108
Cutis Laxa, Autosomal Recessive, Type Iia
Narrow mouth, High palate, Long philtrum, Low-set ears, Carious teeth, Congenital hip dislocation... OMIM:219200
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Conductive hearing impairment, Convex nasal ridge, Chiari malformatio... ORPHA:93262
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Bilateral conductive hea... OMIM:216300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Conductive hearing impairment, Carious teeth, Supernumerary tooth, Micrognathia, Abnormal antihel... ORPHA:3145
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Short philtrum, Plagiocephaly, Dilated third ventricle, Partial agenesis of the... OMIM:617296
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar hypoplasia, Tachypnea, Micrognathia, Dandy-Walker... ORPHA:397715
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, High palate, Plagiocephaly, Agenesis of corpus callosum, Low-set ears, Dolichocep... OMIM:615433
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Yell... ORPHA:88661
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Crouzon Syndrome
Multiple suture craniosynostosis, Cerebellar hypoplasia, Conductive hearing impairment, Convex na... ORPHA:207
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Micrognathia, Posteriorly rotated ears, Brachycephaly, Smooth philtrum, Retrognathi... OMIM:263210
Basel-Vanagaite-Smirin-Yosef Syndrome
Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow pa... ORPHA:464738
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Pneumonia, Low-set ears, Depressed nasal bridge, Short chin, Retrognathia, Anteverte... OMIM:614069
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling OMIM:618383
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Tracheomalacia, Conductive hearing impairment, Sensorineural he... OMIM:601390
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, High palate, Cerebellar atrophy, Progressive microcephaly, Long philtrum, Low-s... OMIM:608027
Fried Syndrome
Cerebral calcification, High palate, Short philtrum, Abnormal cerebellum morphology, Macrotia, Hy... ORPHA:85335
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Asthma, Microtia, Cleft lip, Increased overbite, Cleft ... OMIM:618761
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short philtrum, Hypoplasia of the corpus callosum, Craniosynostosis, Dolichocephaly, Underdevelop... ORPHA:1516
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Recurrent pneumonia, Abnormal palate morphology, Ventriculomegaly, Micrognathia, Mi... ORPHA:1495
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Tracheomalacia, Conductive hearing impairment, Sensorineural he... OMIM:615546
Ethanolaminosis
Cardiomegaly OMIM:227150
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Low-set ears, Ventriculomegaly, Depressed nasal bridge, Short nose, Short chin, A... OMIM:613443
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Dolichocephaly, Long philtrum, Low-set ears, Pulmonary arterial hypertension, Poster... OMIM:613623
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cryptorchidism, Abnormal location... OMIM:218350
Pettigrew Syndrome
Cerebral calcification, High-frequency hearing impairment, Abnormality of the basal ganglia, Sens... OMIM:304340
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Cryptorchidism, Conductive hearin... OMIM:616331
Cornelia De Lange Syndrome 5
High palate, Broad nasal tip, Anteverted nares, Cutis marmorata, Long philtrum, Cryptorchidism, W... OMIM:300882
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Dentinogenesis Imperfecta
Bruising susceptibility, Knee joint hypermobility, Abnormal dental pulp morphology, Odontodysplas... ORPHA:49042
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Micrognathia, Microglo... OMIM:241800
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Low-set ears, Maxillozygomatic hypoplasia, Alveolar proces... OMIM:273050
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Apneic episodes in infancy, Small fontanelle, Dilat... ORPHA:3078
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Midface retrusion, Hypoplasia of the maxilla, Smooth philtrum, Protruding... OMIM:618737
Branchiooculofacial Syndrome
Broad nasal tip, Cryptorchidism, Micrognathia, Microcephaly, Agenesis of cerebellar vermis, Short... OMIM:113620
Williams-Beuren Region Duplication Syndrome
High palate, Hypoplasia of the corpus callosum, Short philtrum, Broad nasal tip, Cutis marmorata,... OMIM:609757
Six2-Related Frontonasal Dysplasia
Aplasia/Hypoplasia of the frontal sinuses, Prominent palatine ridges, Metopic synostosis, Frontal... ORPHA:488437
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Bulbous nose, Vascular skin abnormality, Hyper... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate OMIM:614020
Peho-Like Syndrome
Cerebellar atrophy, Progressive microcephaly, Open mouth, Ventriculomegaly, Lissencephaly, Pachyg... OMIM:617507
Tetrasomy 5P
Cyanosis, High palate, Long philtrum, Low-set ears, Micrognathia, Midface retrusion, Pulmonary ar... ORPHA:3309
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Malan Syndrome
Narrow mouth, Cutis marmorata, Everted lower lip vermilion, Hyperplasia of the premaxilla, Midfac... OMIM:614753
Maxillonasal Dysplasia
Open bite, Microdontia, Midface retrusion, Hypoplasia of the maxilla, Mandibular prognathia, Toot... ORPHA:1248
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Temple Syndrome
High palate, Short philtrum, Bifid uvula, Recurrent otitis media, Cryptorchidism, Micrognathia, F... OMIM:616222
Bloom Syndrome
Recurrent upper respiratory tract infections, Dolichocephaly, Cryptorchidism, Cutaneous photosens... OMIM:210900
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Dilated fourth ventricle, Bulbous nose, Dilated third ventricle, Lobulat... ORPHA:434179
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Cutis marmorata, Long philtrum, Low-set ears, Velopharyngeal insufficiency, Sku... OMIM:614701
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Wormian bones, Delayed eruption of teeth, Low-set ears, Abnor... ORPHA:2863
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity OMIM:616390
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microcephaly, Brachycephaly, Retrognathia ORPHA:2528
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Deep philtrum, Prominence of the premaxilla, Everted lower lip vermilion OMIM:137550
Zellweger Syndrome
High palate, Sensorineural hearing impairment, Abnormality of the tongue, Micrognathia, Respirato... ORPHA:912
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Abnormality of the outer ear, Large earlobe, Absent tragus, Underdevelop... ORPHA:79113
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Respi... ORPHA:171703
Neuralgic Amyotrophy
Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Pierpont Syndrome
Broad nasal tip, Cryptorchidism, Hearing impairment, Everted lower lip vermilion, Widely spaced t... OMIM:602342
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Hypoplasia of the maxilla, Macrotia, Brachycephaly, Mandibular prognathia ORPHA:93950
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Midface retrusion ORPHA:2776
Saul-Wilson Syndrome
Wide anterior fontanel, Prominent superficial veins, Micrognathia OMIM:618150
Otodental Syndrome
Abnormality of the maxilla, Anteverted nares, Long philtrum, Gingival overgrowth, Pulp calcificat... ORPHA:2791
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Dolichocephaly, Open bite, Ventriculomegaly, Midface retrusion, Mandibular prognathi... ORPHA:168624
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Severe sensorineural hearing impai... OMIM:604213
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Low-set ears, Ventriculomegaly, Frontal bossing, Hypoplasia of the cor... ORPHA:217385
Apert Syndrome
Bifid uvula, Cloverleaf skull, Mandibular prognathia, Cleft palate, Acrobrachycephaly, Conductive... ORPHA:87
Trichodentoosseous Syndrome
Dolichocephaly, Microdontia, Widely spaced teeth, Frontal bossing, Taurodontia OMIM:190320
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Bulbous nose, Wide nasal bridge, Ventriculomegaly, Microcephaly, Br... OMIM:300958
Sener Syndrome
High palate, Hypodontia, Microtia, Natal tooth, Anteriorly placed anus, Delayed eruption of perma... OMIM:606156
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Microtia, Midface retrusion... ORPHA:1327
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Restrictive ventilatory defect, Increased CSF protein, Agenesis of corpus callosum, ... OMIM:218000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Cutis marmorata, Ventriculomegaly, Hemimegalencephaly, Hydroce... OMIM:615937
Orofaciodigital Syndrome Type 2
Agenesis of central incisor, Tachypnea, Micrognathia, Hamartoma of tongue, Protruding ear, Cleft ... ORPHA:2751
Raine Syndrome
Microdontia, Micrognathia, Microcephaly, Mandibular prognathia, Protruding ear, Cleft palate, Sho... OMIM:259775
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Low-set ears, Open mouth, Conductive hearing impairment, Supernumerary ... OMIM:617412
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Broad nasal tip, Anteverted nares, Trigonocephaly, Long philtrum, Low-set ears, Cryp... OMIM:613792
Intellectual Disability And Myopathy Syndrome
Cutis marmorata, Sleep apnea, Congenital hip dislocation, Widely-spaced maxillary central incisor... OMIM:619719
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Abnormal palate morphology, Dolichocephaly, Carious teeth, Radioulnar synost... ORPHA:3270
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Delayed eruption of teeth, Long philtrum, Delayed closure of the anteri... OMIM:607812
Cornelia De Lange Syndrome 2
High palate, Cutis marmorata, Ventriculomegaly, Micrognathia, Microcephaly, Prominent nasal bridg... OMIM:300590
Achondroplasia
Recurrent otitis media, Conductive hearing impairment, Midface retrusion, Frontal bossing, Depres... OMIM:100800
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2026
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Retrognathia, Camp... ORPHA:2521
Congenital Disorder Of Glycosylation, Type Iu
High palate, Cerebellar hypoplasia, Cerebral white matter atrophy, Micrognathia, Respiratory dist... OMIM:615042
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Low-set ears, Micrognathia, High, narrow palate, Radiou... OMIM:248700
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormality of the external ... ORPHA:141091
Cerebrooculonasal Syndrome
Cleft palate, Encephalocele, Short nose, Cerebellar vermis hypoplasia, High palate, Solitary medi... OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Pointed chin, Low-set ears, Dental crowding, Brachycephaly, Thin upper lip vermilion... OMIM:616078
Otosclerosis 10
Otosclerosis OMIM:615589
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Cebalid Syndrome
High palate, Plagiocephaly, Dolichocephaly, Depressed nasal ridge, Low-set ears, Hearing impairme... OMIM:618774
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
High palate, Plagiocephaly, Agenesis of corpus callosum, Abnormal globus pallidus morphology, Ven... OMIM:618603
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Craniosynostosis, Minimal subcutaneous fat, Dolichocephaly, Dis... OMIM:182212
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Hydrocephalus, S... ORPHA:2703
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Dolichocephaly, Sensorineural hearing impairment, Low-set, posteriorl... ORPHA:44
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Anauxetic Dysplasia 3
Plagiocephaly, Oligodontia, Midface retrusion, Retrognathia, Hip subluxation, Wide anterior fonta... OMIM:618853
Acromelic Frontonasal Dysplasia
Broad nasal tip, Encephalocele, Median cleft palate, Agenesis of corpus callosum, Anterior pituit... ORPHA:1827
W Syndrome
Broad nasal tip, Broad uvula, Upper lip pit, Submucous cleft hard palate, Depressed nasal bridge,... ORPHA:2804
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus, Gingivitis, Abnormality of the dentition, Hearing impairment ORPHA:1008
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Broad nasal tip, Plagiocephaly, Progressive microcephaly, Dilated fourth ventricle, ... OMIM:300749
Neurofaciodigitorenal Syndrome
Plagiocephaly, Hypoplasia of the premaxilla, Abnormal oral mucosa morphology, Low-set ears, Abnor... ORPHA:2673
Gapo Syndrome
Prominent scalp veins, Thick lower lip vermilion, Eruption failure, Micrognathia, High, narrow pa... OMIM:230740
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Underdeveloped nasal alae, Conical tooth, Cryptorchidism, Low-set ea... ORPHA:228390
Perching Syndrome
High palate, Depressed nasal bridge, Respiratory distress OMIM:617055
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Low-set ears, Sleep apnea, Widely spaced teeth, Micrognathia, Dandy-... ORPHA:459061
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Macrotia, Abnormality of the ... ORPHA:1193
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Skraban-Deardorff Syndrome
Recurrent otitis media, Widely spaced teeth, Thick upper lip vermilion, Micrognathia, Hyperplasia... OMIM:617616
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Sensorineural hearing impairment, Micrognathia, High, narrow ... OMIM:604841
Hemifacial Atrophy, Progressive
Tongue atrophy, Delayed eruption of teeth, Microtia, Dental malocclusion, Short mandibular rami OMIM:141300
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cleft lip, Wrist flexion contracture, Pursed lips, Knee f... OMIM:619110
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Cerebellar atrophy, Anteverted nares, Long philtrum, Low-set ears, Wide nasal b... OMIM:616430
Anonychia With Flexural Pigmentation
Carious teeth, Macular telangiectasia ORPHA:69125
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Progressive microcephaly, Long philtrum, Dandy-Walker malformation, Depressed... ORPHA:438178
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly, Mandibular prognathia, Wide ... OMIM:309545
Auriculocondylar Syndrome 1
Narrow mouth, Apnea, Cupped ear, Cleft at the superior portion of the pinna, Low-set ears, Overfo... OMIM:602483
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Anteverted nares, Long philtrum, Low-set ears, Oligodontia, Convex nas... ORPHA:251019
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Low-set ears, Abnormality of the dentition, Cryptorchidism, Hearing impairment,... OMIM:179613
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Micrognathia, Hamartoma of tongue, Mandibular condyle aplasia, Cl... ORPHA:137888
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Short philtrum, Plagiocephaly, Dolichocephaly, Depressed nasal ridge, Low-set ... OMIM:618672
Premature Aging Syndrome, Penttinen Type
Wormian bones, Delayed eruption of teeth, Sensorineural hearing impairment, Micrognathia, Midface... OMIM:601812
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Large fontanelles, Abnormality of the mou... ORPHA:181393
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Trismus, Low-set ears, Conductive hearing impairment, Everted lower lip vermilion, Mi... OMIM:616367
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Long philtrum, Dilated fourth ventricle, Prominent nasolabial fold, P... ORPHA:357058
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, Low-set ears, Conductive hearing ... ORPHA:2780
16P13.2 Microdeletion Syndrome
Hydrocephalus, Plagiocephaly, Asthma, Dilated third ventricle, Sleep apnea, Cryptorchidism, Cereb... ORPHA:500055
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Coffin-Siris Syndrome 10
Persistence of primary teeth, Posteriorly rotated ears, Low-set ears, Wide mouth OMIM:618506
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Long philtrum, Coronal craniosynostosis, Midface retrusion, Frontal ... OMIM:207410
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Dental crowding, Central apnea, Hypoplasia of... ORPHA:320385
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deep philtrum, Cerebral cortical atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Chiar... OMIM:618859
Potocki-Shaffer Syndrome
Short philtrum, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Depressed nasal tip, Pr... ORPHA:52022
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth, Hip osteoarthritis ORPHA:63442
Ramon Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Gingival fibromatosis, Sensorineural he... ORPHA:3019
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Tracheomalacia, Micrognathia, Anteriorly placed anus, Respiratory distress... OMIM:217980
Lujan-Fryns Syndrome
High palate, Short philtrum, Camptodactyly of finger, Low-set ears, Micrognathia, Hypoplasia of t... ORPHA:776
Aminopterin Syndrome Sine Aminopterin
High palate, Low-set ears, Cryptorchidism, Oligodontia, Micrognathia, Microcephaly, Frontal bossi... OMIM:600325
Mpdu1-Cdg
Prominent frontal sinuses, Absence of acoustic reflex, Wide anterior fontanel, Thin vermilion bor... ORPHA:79323
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Cleft palate OMIM:246560
Potocki-Shaffer Syndrome
Short philtrum, Wormian bones, Underdeveloped nasal alae, Wide nasal bridge, Turricephaly, Brachy... OMIM:601224
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Anteverted nares, Low-set ears, Wide nasal bridge, Micrognathia, Mi... OMIM:615834
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Chromosome 22Q11.2 Duplication Syndrome
High palate, Low-set ears, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, Abnormal helix morphology, Low-set ears, Hearing impairment, Sens... OMIM:214100
Heart And Brain Malformation Syndrome
Prominent occiput, Prominent metopic ridge, Low-set ears, Everted lower lip vermilion, Thick lowe... OMIM:616920
Otopalatodigital Syndrome, Type Ii
Narrow mouth, Wormian bones, Low-set ears, Delayed closure of the anterior fontanelle, Conductive... OMIM:304120
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Macroglossia OMIM:275100
Mental Retardation, Buenos Aires Type
High palate, Low-set ears, Carious teeth, Wide nasal bridge, Microcephaly, Partial agenesis of th... OMIM:249630
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Cleidocranial Dysplasia
Open bite, Micrognathia, High, narrow palate, Mandibular prognathia, Hypoplasia of the zygomatic ... ORPHA:1452
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Low-set ears, Aganglionic megacolon, Wide nasal bridge, Microtia, Frontal bossing... OMIM:613603
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Wide anterior fontanel, Death in infancy, Micrognathia OMIM:619135
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Temporomandibular joint ankylosis, Dolichocephaly, Low-set ears, Contracture of the ... ORPHA:2872
20P13 Microdeletion Syndrome
Low-set ears, Hypoplastic helices, Tented upper lip vermilion, Posteriorly rotated ears, Smooth p... ORPHA:313781
Acrofrontofacionasal Dysostosis 2
High palate, Low-set ears, Overfolded helix, Posteriorly rotated ears, Brachycephaly, Wide anteri... OMIM:239710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Cryptorchidism, Slender nose, Micrognathia, Microcephaly, Macrotia, Smooth philtrum... OMIM:615419
Smith-Magenis Syndrome
Abnormality of the outer ear, Velopharyngeal insufficiency, Wide nasal bridge, Ventriculomegaly, ... OMIM:182290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Low-set ears, Esophageal diverticulum, Microtia, Micrognathia, ... OMIM:617925
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Bulbous nose, Low-set ears, Cutaneous photosensitivity, Wide nasal bridge, Depressed... ORPHA:2180
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Large earlobe, Delayed eruption of teeth, Long philtrum, Low-set ears, Hypoplasia o... OMIM:257850
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Carpal synostosis, Deep philtrum, Microdontia, Radioulnar synostosis, Bilateral se... OMIM:605282
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Prominent occiput, Cerebellar atrophy, Agenesis of corpus callosum, Low-s... ORPHA:89844
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Low-set, posteriorly rotated ears, Cleft palate, Thin vermilion bord... OMIM:615502
Fibrochondrogenesis 1
Narrow mouth, Long philtrum, Low-set ears, Joint contracture of the hand, Widely patent coronal s... OMIM:228520
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Anencephaly, Unilateral c... ORPHA:2189
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Cupped ear, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia ORPHA:93945
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar flattening OMIM:122880
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Abnormal pinna morphology, Cerebellar hypoplasia, Wide nasal bridge, Microcephaly, Cerebral corti... ORPHA:352530
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Cleft upper lip, Choroid plexus cyst, Cavum septum pellucidum... OMIM:304050
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Cerebellar cyst, Occipital encephalocele, ... ORPHA:370959
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Micrognathia, Increased overbite, Retrognathi... OMIM:613684
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Widely spaced teeth, Microdontia, Hypoplasia of the maxilla... OMIM:601216
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Solitary median maxillary cent... OMIM:610828
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short philtrum, Thin vermilion border, Premature loss of teeth OMIM:156510
Lowry-Maclean Syndrome
Craniosynostosis, Low-set ears, Small anterior fontanelle, Widely patent coronal suture, Microgna... ORPHA:2409
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Wide nasal bridge, Micrognathia, Microcephaly, Abnorma... ORPHA:1598
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Sensorineural hearing impairment, Hypoplasia of the maxilla, Camptodactyly of finge... ORPHA:1529
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Low-set ears, Patellar hypoplasia, Asthma, A... ORPHA:2257
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Asthma, Cryptorchidism, Carious teeth, Thick lower lip verm... ORPHA:10
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Ventriculomegaly, Micrognathia, Hydrocephalus, Cleft pa... OMIM:614120
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Edinburgh Malformation Syndrome
Narrow mouth, Anteverted nares, Low-set ears, Micrognathia, Choanal atresia, Frontal bossing, Hyd... ORPHA:1895
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Cloverleaf skull, Hypoplasia of the zygomatic bone, Thickened helices, Cleft pala... ORPHA:1555
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture OMIM:259610
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Bulbous nose, Low-set ears, Wide nasal bridge, Micrognathia, Depressed n... OMIM:615761
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Everted lower lip vermilion, Deep philtrum, Exaggerated... ORPHA:261120
Gorlin Syndrome
Cerebral calcification, Cryptorchidism, Carious teeth, Wide nasal bridge, Abnormality of the sens... ORPHA:377
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Round ear, Frontal bossing, Anteverted nares, Short nose ORPHA:1450
Acrofacial Dysostosis, Palagonia Type
Low-set ears, Oligodontia, Unilateral cleft lip, Supernumerary tooth, High, narrow palate, Microg... ORPHA:1787
Ritscher-Schinzel Syndrome 1
Prominent occiput, Low-set ears, Micrognathia, Anal atresia, Dandy-Walker malformation, Depressed... OMIM:220210
Glutamine Deficiency, Congenital
Anteverted nares, Low-set ears, Decreased CSF glutamine concentration, Neonatal death, Wide nasal... OMIM:610015
Zaki Syndrome
High palate, Short philtrum, Cupped ear, Dilated fourth ventricle, Cerebellar vermis hypoplasia, ... OMIM:619648
Acrocallosal Syndrome
Prominent occiput, High palate, Short philtrum, Rectovaginal fistula, Cleft upper lip, Long philt... OMIM:200990
Baraitser-Winter Syndrome 1
Long philtrum, Cryptorchidism, Microcephaly, Lissencephaly, Retrognathia, Thin upper lip vermilio... OMIM:243310
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Anteverted nares, Cryptorchidism, Hearing impairment, Carious teeth, ... ORPHA:2701
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Anencephaly, Bifid nose, Median cleft lip OMIM:619452
Opitz-Kaveggia Syndrome
Microtia, first degree, Long philtrum, Micrognathia, Cleft palate, Cleft upper lip, Anal stenosis... OMIM:305450
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Low-set ears, Micrognathia, Midface retrusion, Microcepha... ORPHA:1913
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hearing abnormality, Abnormality of the ear, Unilateral cleft lip, Microcephaly, Narrow nasal bri... ORPHA:2511
Dubowitz Syndrome
Micrognathia, Rectal prolapse, Protruding ear, High palate, Cutis marmorata, Anal stenosis, Abnor... ORPHA:235
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Sensorineural hearing impairment, Atresia of the external auditory canal... OMIM:609166
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Micrognathia, Knee flexion contracture, Fixed elbow flexion, Genu valgum,... ORPHA:166016
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Tented upper lip vermilion, Short nose, Cerebellar vermis hypoplasia, High palate,... OMIM:619383
Mental Retardation, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Tented upper lip vermi... ORPHA:819
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Enamel hypoplasia, Non-midline cleft lip, Cleft soft palate... ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Micrognathia, Microcephaly, Macrotia, Respiratory distress, Hypoplasia of th... OMIM:300934
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Dolichocephaly, Carious teeth, Turricephaly, Large fleshy ears, Generalized hypoplasia of dental ... OMIM:203550
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Beare-Stevenson Cutis Gyrata Syndrome
Narrow mouth, Anteverted nares, Craniosynostosis, Agenesis of corpus callosum, Choanal stenosis, ... OMIM:123790
Robinow Syndrome, Autosomal Recessive 1
Absent uvula, Long philtrum, Low-set ears, Bifid tongue, Micrognathia, Macroglossia, Midface retr... OMIM:268310
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Long philtrum, Underfolded helix, Low-set ears, Camptodactyly of finger, Hypopl... ORPHA:178303
Apert Syndrome
Bifid uvula, Cryptorchidism, Cerebellar hypoplasia, Mandibular prognathia, Chiari type I malforma... OMIM:101200
Perlman Syndrome
Broad alveolar ridges, Dolichocephaly, Low-set ears, Cryptorchidism, Open mouth, Abnormal pancrea... ORPHA:2849
Maxillonasal Dysplasia, Binder Type
Large earlobe, Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Convex nasal ridge, Microtia, Micrognathia, Malar flattening, Abnormal antiheli... ORPHA:2145
Liang-Wang Syndrome
Downturned corners of mouth, Everted lower lip vermilion, Macroglossia, Thin upper lip vermilion,... OMIM:618729
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Bulbous nose, Abnormality of the dentition, Conductive... ORPHA:502
Hypophosphatasia, Childhood
Premature loss of primary teeth, Craniosynostosis, Dolichocephaly, Carious teeth, Frontal bossing OMIM:241510
Odontochondrodysplasia
Delayed eruption of teeth, Frontal bossing, Retrognathia, Respiratory distress, Death in infancy,... ORPHA:166272
Even-Plus Syndrome
Dysplastic corpus callosum, High palate, Agenesis of corpus callosum, Depressed nasal ridge, Hypo... OMIM:616854
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, High palate, Malar flattening OMIM:300850
Chromosome 2P16.1-P15 Deletion Syndrome
Long philtrum, Cryptorchidism, Everted lower lip vermilion, High, narrow palate, Microcephaly, Co... OMIM:612513
Smith-Kingsmore Syndrome
Long philtrum, Open mouth, Midface retrusion, Frontal bossing, Smooth philtrum, Thin upper lip ve... OMIM:616638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Plagiocephaly, Long philtrum, Dolichocephaly, Low-set ears, Congenital hip dislocati... ORPHA:457279
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Nabais Sa-De Vries Syndrome, Type 1
Pointed chin, Bulbous nose, Hearing impairment, Primary microcephaly, Simplified gyral pattern, D... OMIM:618828
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Congenital hip dislocation, Delayed eruption of teeth, Macroglossia OMIM:614450
Spastic Paraplegia 50, Autosomal Recessive
High palate, Short philtrum, Cerebellar atrophy, Drooling, Bulbous nose, Ventriculomegaly, Microc... OMIM:612936
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Jaundice, Macroglossia, Midface retrusion, Frontal bossing, Depressed nasal bridge, Malar flatten... OMIM:613038
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Cranioectodermal Dysplasia
Prominent occiput, Craniosynostosis, Dolichocephaly, Hypodontia, Microdontia, Everted lower lip v... ORPHA:1515
Intellectual Developmental Disorder, X-Linked 30
High palate, Drooling, Open mouth, Thick upper lip vermilion, Microcephaly, Prominent nasal bridg... OMIM:300558
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Pilodental Dysplasia With Refractive Errors
Conical incisor, Ectodermal dysplasia, Hypodontia OMIM:262020
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Jackson-Weiss Syndrome
Abnormal palate morphology, Midface retrusion, Hypoplasia of the maxilla, Frontal bossing, Turric... ORPHA:1540
Stickler Syndrome Type 1
Long philtrum, Sensorineural hearing impairment, Osteoarthritis, Hypoplasia of the maxilla, Cleft... ORPHA:90653
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Microtia, Hypoplasia of the maxilla, Malar flattening, Thickened hel... ORPHA:261295