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
cleft palate Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
decreased thigmotaxis Msx1tm1b(KOMP)Wtsi HET Early adult 6.00×10-05
preweaning lethality, complete penetrance Msx1tm1b(KOMP)Wtsi HOM   Early adult 0.00
cyanosis Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
increased heart weight Msx1tm1b(KOMP)Wtsi HET Early adult 1.11×10-05
increased circulating free fatty acids level Msx1tm1b(KOMP)Wtsi HET Early adult 3.77×10-05
abnormal facial morphology Msx1tm1b(KOMP)Wtsi HOM E18.5 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 0.0%
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 Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Combined SHIRPA and Dysmorphology

Images

5 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 lip, Cleft palate OMIM:600625
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
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
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
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
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Oral-pharyngeal dysp... ORPHA:199306
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip ver... OMIM:619736
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Con... ORPHA:3232
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Rhizomelic Syndrome
Wide anterior fontanel, Micrognathia, Hip dislocation OMIM:268250
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop... ORPHA:2972
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Large fontanelles, Short nose, Gingival fibromatosis, Respiratory distress, Antever... ORPHA:1832
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Wide anterior fontanel, Low-set ... OMIM:619339
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Long upper lip, High palate, Low-set ears, Micrognathia, Prominent nasal ... OMIM:300215
Larsen-Like Syndrome
Recurrent otitis media, Joint dislocation, Wide anterior fontanel, Low-set ears, Conductive heari... OMIM:608545
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Low-set ears, High palate, Prominent me... OMIM:614541
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Short philtrum, High palate, Dilated third ventricle, Low-set ears, Prominent nose... OMIM:619244
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Dental crowding, Mandibular prognathia, Wide anterior fontanel, High... OMIM:269300
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Frontal bossing,... ORPHA:3352
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li... ORPHA:401942
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Hearing abnormality, Abnormality of fontanelles, Anteverted nares, Na... ORPHA:2412
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Micrognathia, Dolichocephaly, Orbital ... ORPHA:1538
Rhizomelic Syndrome, Urbach Type
Wide anterior fontanel, High palate, Micrognathia, Cleft palate, Abnormality of the knee, Abnorma... ORPHA:3098
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Underdeveloped tragus, Hypopla... OMIM:610829
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Short nose, Craniosynostosis, Hyperactivity, Wide anterior fontanel, Antev... OMIM:601853
Orofaciodigital Syndrome Ii
Hydrocephalus, Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia of the maxil... OMIM:252100
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Narrow palate, Retrognathia, Pontocerebellar atrophy, Wide nose, Cerebellar atrophy, Low-set ears... OMIM:620428
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Peroxisome Biogenesis Disorder 7A (Zellweger)
Jaundice, Wide anterior fontanel, High palate, Low-set ears, Death in infancy, Posteriorly rotate... OMIM:614872
Lowry-Maclean Syndrome
Convex nasal ridge, Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Low-set, posteriorly rotated ears, High palate, Everted lower lip verm... ORPHA:1695
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Dilated fourth ventricle, Frontal bossing... OMIM:220220
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Temp... OMIM:614669
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Short chin, Short philtrum, Anteverted nares, Low-set ears, Dilated fourth ventricle,... OMIM:613443
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short nose, Hydrocephalus, Anteverted nares, Micrognathia, Broad ph... OMIM:618577
Acrofacial Dysostosis Syndrome Of Rodriguez
Short philtrum, Wide anterior fontanel, Narrow mouth, High palate, Low-set ears, Micrognathia, Po... OMIM:201170
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Short nose, Abnormality of the elbow, Wide anterior fontanel, Ant... ORPHA:163649
Cleft Velum
Recurrent otitis media, Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, ... ORPHA:99772
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Narrow palate, Lambdoidal craniosynostosis, Long nose, Parietal for... OMIM:101400
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Perching Syndrome
Respiratory distress, High palate, Dysphagia, Cyanosis, Depressed nasal bridge OMIM:617055
Brachydactyly, Type B1
Joint contracture of the hand, Wide anterior fontanel, Delayed cranial suture closure, Delayed er... OMIM:113000
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Hyperactivity, Low hanging columella, High palat... OMIM:613684
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Anteverted nar... OMIM:166750
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Intellectual Disability, Birk-Barel Type
High, narrow palate, Protruding ear, Limited elbow flexion/extension, Short philtrum, Narrow nasa... ORPHA:166108
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Gingival fibromatosis, Delayed eruption of... ORPHA:2027
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Low-set ears, Cryptorchidism, Protruding ear, Bulbous nos... OMIM:616788
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic... ORPHA:141152
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Gómez-López-Hernández Syndrome
Brachycephaly, Thin vermilion border, Turricephaly, Hydrocephalus, Anteverted nares, Cerebellar v... ORPHA:1532
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Micrognathia, Anteverted nares, Depressed nasal bridge OMIM:618272
Holoprosencephaly 2
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Aplasia of the prem... OMIM:157170
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Excessive wrinkled skin, Wide anterior fontanel, Anteverted nares, Narrow mouth, High... OMIM:219200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Abnormality of canine, Small earlobe, Oligodontia, Exaggerated cupid's bow, Long uppe... ORPHA:364577
Elsahy-Waters Syndrome
Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Impacted to... OMIM:211380
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Wide anterior fontanel, Delayed ossification of carpal bones, H... OMIM:620099
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Abnormal antihelix morphology, Carious teeth, Micrognathia, Conductive heari... ORPHA:3145
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
17Q21.31 Microduplication Syndrome
Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the dentition, Microgna... ORPHA:217340
Progeroid Syndrome, Petty Type
Low-set, posteriorly rotated ears, Prematurely aged appearance, Wide anterior fontanel, Mandibula... ORPHA:2963
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cleft palate, Thin... ORPHA:2015
Catifa Syndrome
Delayed eruption of teeth, Tooth malposition, Increased overbite, Microtia, Anteverted nares, Att... OMIM:618761
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Sweeney-Cox Syndrome
Microtia, Short philtrum, Choanal atresia, Hearing impairment, Broad nasal tip, Crumpled ear, Sho... OMIM:617746
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Abnormal subcutaneous fat tissue distribution, Widely space... ORPHA:487825
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Anosmia, Microdontia, Anterior plag... OMIM:619718
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Wide anterior fontanel, Low-set ears, Micrognathia, Posteriorly rotated ears, Large... OMIM:263210
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Low-s... ORPHA:2863
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Chronic otitis media, Decreased response to growth hormone stimulation test, Short... OMIM:609757
Tetrasomy 5P
Short nose, Respiratory distress, Wide anterior fontanel, Anteverted nares, High palate, Low-set ... ORPHA:3309
Ethanolaminosis
Cardiomegaly OMIM:227150
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Mandibular progn... OMIM:265900
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Ectopic anus, W... ORPHA:85199
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Wide anterior fontanel, High palate, Anal atresia, Ir... OMIM:601390
Adenylosuccinate Lyase Deficiency
Brachycephaly, Short nose, Flat occiput, Anteverted nares, Low-set ears, Smooth philtrum, Long ph... ORPHA:46
Clark-Baraitser Syndrome
Brachycephaly, Short nose, Short philtrum, Low hanging columella, Anteverted nares, Exaggerated c... OMIM:617752
Cornelia De Lange Syndrome 5
Brachycephaly, Thin vermilion border, Retrognathia, Widely spaced teeth, Anteverted nares, High p... OMIM:300882
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Hearing impairment, Micrognathia, Protrusio acetabuli, Dentinogenesis imp... OMIM:259420
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Prominent palatine ridges, Posterio... ORPHA:488437
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Hyperactivity, Dental crowding, Sensorineural hearing impairment, Everted lower lip... OMIM:618342
Orofaciodigital Syndrome Type 2
Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c... ORPHA:2751
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide anterior fontanel, Anteverted nares, High palate, Carious teeth, ... OMIM:607812
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Wide anterior fontanel, High palate, Micrognathia, Malar flattening, Wo... ORPHA:85184
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in... ORPHA:1193
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Branchiooculofacial Syndrome
Premature graying of hair, Sensorineural hearing impairment, Microtia, Malrotation of colon, Abno... OMIM:113620
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Gingival overgrowth, Mandibular prognathia,... OMIM:614753
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Recurrent mandibular subluxations, Gingival hyperkeratosis, Gingival overgrowth, Wide anterior fo... OMIM:225410
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Retrognathia, Meckel diverticulum, Hydrocephalus, Dandy-Walker malformation, Cerebell... ORPHA:163961
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dysgenesis of the cerebellar vermis, Colpocephaly, Lateral ventricle dil... ORPHA:397715
Holoprosencephaly 5
Orofacial cleft, Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Anteverted... OMIM:609637
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Short philtrum, Dental crowding, Dilated third ventricle, Frontal b... OMIM:617296
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Auriculocondylar Syndrome 4
Narrow mouth, Glossoptosis, Question mark ear, Hearing impairment, Micrognathia, Cleft palate, Apnea OMIM:620457
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Short philtrum, Alobar holoprosencephaly, High palate, Low-set ears... OMIM:615433
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity OMIM:616390
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n... ORPHA:1529
Crouzon Syndrome
Brachycephaly, Narrow palate, Turricephaly, Hydrocephalus, Choanal atresia, Multiple suture crani... ORPHA:207
Van Maldergem Syndrome 2
Hip subluxation, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory ca... OMIM:615546
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Open bite, High palate, Trigonocephaly, Dolichocephaly, Ventriculomegaly ORPHA:168624
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... OMIM:616367
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat... OMIM:620107
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Thin vermilion border, Short nose, Turricephaly, Hydrocephalus, Anteverted nares, ... ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Delayed eruption of teeth, Low hanging columella, Dental crowding, An... OMIM:618825
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High, narrow palate, Short philtrum, Cholelithiasis, Anteverted nares, Prominent na... ORPHA:464738
Marden-Walker Syndrome
High, narrow palate, Wide anterior fontanel, Anteverted nares, Narrow mouth, High palate, Low-set... OMIM:248700
Fried Syndrome
Short philtrum, Hydrocephalus, High palate, Abnormal cerebellum morphology, Hearing impairment, M... ORPHA:85335
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Wide anterior fontanel, Abnormal pinna morphology, Anteverted n... OMIM:217980
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Thin vermilion border, Short nose, Anteverted nares, Low-set ears, Intestinal malr... OMIM:614701
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Prematurely ... ORPHA:1387
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Chiari type I malformation, Hydrocephalus, Brachyturricephaly, Pyloric stenosis, F... OMIM:218350
W Syndrome
Broad nasal tip, Upper lip pit, Submucous cleft hard palate, Broad uvula, Depressed nasal bridge,... ORPHA:2804
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Abnormal palate morphology, Turricephaly, Hydrocephalus, Choanal atresia, Hypoplas... ORPHA:93262
Anonychia With Flexural Pigmentation
Macular telangiectasia, Carious teeth, Convex nasal ridge ORPHA:69125
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Attached earlobe, Wide anterior fontanel, Antever... OMIM:616920
Cornelia De Lange Syndrome 2
Brachycephaly, Anteverted nares, High palate, Downturned corners of mouth, Micrognathia, Prominen... OMIM:300590
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Low-set ears, High palate, Depressed nasal ridge, Velopharyngeal insuf... OMIM:608363
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Craniosynostosis 2
Supernumerary tooth, Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Metopic syno... OMIM:604757
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Dysgenesis of the cerebellar vermis, Recurrent otitis media, Low hanging columella... OMIM:617751
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Dental malocclusion, Tongue atrophy OMIM:141300
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Macroglossia, Depressed nasal bridge OMIM:275100
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Prominent median palat... OMIM:300602
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Dislocation of the fem... OMIM:619797
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition ORPHA:2776
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Vascular skin abnormality, Sensorineural hearing impair... ORPHA:544488
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Protruding ear, Bulbous nose,... OMIM:618737
Lowry-Maclean Syndrome
Convex nasal ridge, Retrognathia, High, narrow palate, Short nose, Widely patent coronal suture, ... ORPHA:2409
Fibrochondrogenesis 1
Stillbirth, Short nose, Widely patent coronal suture, Wide anterior fontanel, Abnormal pinna morp... OMIM:228520
Recon Progeroid Syndrome
Thin vermilion border, Cutaneous photosensitivity, Dental crowding, Microtia, Attached earlobe, N... OMIM:620370
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Congenital hip dislocation, Cutis marmorata, Broad ... OMIM:619719
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Dandy-Walker Syndrome
Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:220200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Prominent nose, Delayed closure of the anterior fontanelle, Prominence of... OMIM:614886
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, ... ORPHA:44
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Hearing abnormality, Abnormality of the dentition, Prominent nose, Ca... ORPHA:3270
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Short philtrum, Hydrocephalus, Stenosis of the external auditory... ORPHA:1516
Otosclerosis 10
Otosclerosis OMIM:615589
Frontonasal Dysplasia 1
Joint contracture of the hand, Short columella, Bifid nasal tip, Low-set ears, Median cleft palat... OMIM:136760
Filippi Syndrome
Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, Microdontia, Abn... OMIM:272440
Anauxetic Dysplasia 3
Retrognathia, Hip subluxation, Genu valgum, Wide anterior fontanel, Oligodontia, Depressed nasal ... OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Low-set ears, Cleft palate, Posteriorly... OMIM:615502
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Retrognathia, Narrow mouth, High palate ORPHA:2528
Zellweger Syndrome
Jaundice, Sensorineural hearing impairment, Abnormal pinna morphology, Wide anterior fontanel, Hi... ORPHA:912
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... OMIM:200990
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sensorineural hearing impairment, Wide mouth, Epistaxis, Mild fetal ventriculomegaly, Agenesis of... OMIM:619841
Pallister-Hall-Like Syndrome
Short nose, Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Hydroc... OMIM:241800
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Genu valgum, Dislocated radial head, Wide anterior fontanel, Abnormal pinna morpho... OMIM:182212
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Chronic otitis media, Lambdoidal craniosynostosis, Convex nas... OMIM:614188
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, Anteverted nares, High palate... ORPHA:251019
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Low-set ears, Hypopla... ORPHA:776
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Low-set ears,... OMIM:617412
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Bulbous nose, Cupped ear ORPHA:93945
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Protrudi... ORPHA:85279
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Dandy-Walker m... ORPHA:434179
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Short nose, Decreased response to growth hormone stimulation test, Pr... ORPHA:502430
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Mandibular progna... ORPHA:1327
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Trigonocephaly, Long philtrum, Anteverted nares, Hearing impairment, Broad nasal ti... OMIM:613792
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Frontal bossing, Dolichocephaly, Taurodontia OMIM:190320
Arthrogryposis, Distal, Type 12
Dental crowding, Agenesis of maxillary incisor, High palate, Low-set ears, Cryptorchidism, Hydroc... OMIM:620545
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:171703
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Short nose, Widely spaced teeth, Wide nose, Long upper lip,... OMIM:602342
20P13 Microdeletion Syndrome
Hypoplastic helices, Wide anterior fontanel, Abnormal pinna morphology, Low-set ears, Posteriorly... ORPHA:313781
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ea... ORPHA:178303
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Opitz Gbbb Syndrome
Rectourethral fistula, Solitary median maxillary central incisor, Wide anterior fontanel, Antever... OMIM:300000
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Severe sensorineural hearing imp... OMIM:604213
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Anteverted nares, Death in infancy, Micrognathia, Thin upper lip vermilion OMIM:619135
17P13.3 Microduplication Syndrome
Short nose, Wide nose, Narrow mouth, High palate, Low-set ears, Frontal bossing, Ventriculomegaly ORPHA:217385
Coffin-Siris Syndrome 6
Retrognathia, High, narrow palate, Short philtrum, Wormian bones, Low-set ears, Conductive hearin... OMIM:617808
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares, Exaggerated cupid's bow, Low-set ears, Wide mouth, Thick vermilion ... OMIM:618506
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Large fontanelles, Long nose, Delayed eru... OMIM:257850
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Opitz-Kaveggia Syndrome
Dental crowding, Sensorineural hearing impairment, Intestinal malrotation, Microtia, first degree... OMIM:305450
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Cutaneous photosensitivity, Hydrocephalus, Abnormal dental enamel morphology, Anteverted nares, M... ORPHA:2180
Acrofrontofacionasal Dysostosis 2
Wide nose, Wide anterior fontanel, Low-set ears, High palate, Posteriorly rotated ears, Overfolde... OMIM:239710
Aarskog-Scott Syndrome
Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, A... ORPHA:915
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Stenosis of the ... OMIM:602483
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Gapo Syndrome
Short nose, High, narrow palate, Thick lower lip vermilion, Protruding ear, Wide anterior fontane... OMIM:230740
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Hypoplasia of the maxilla, Convex... OMIM:156510
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Prominent nasal brid... ORPHA:71267
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Mild hearing impairment, Widely spaced teeth, Hydrocephalus, Dandy-Walker malforma... ORPHA:459061
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal d... ORPHA:10
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia ORPHA:93950
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Anteverted nares, Hearing impairment, Cleft upper lip, Bifid uvula, Cleft palate, ... OMIM:300958
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Dandy-Walker malformation, Abnormal pinna morphology, Dilated fourth ventricle, Macro... ORPHA:3078
Acromelic Frontonasal Dysplasia
Brachycephaly, Encephalocele, Meningocele, Anterior pituitary hypoplasia, Bifid nasal tip, Thick ... ORPHA:1827
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Abnormal pinna morphology, Dilat... OMIM:614175
Fetal Akinesia Deformation Sequence 4
Retrognathia, Low-set ears, High palate, Prenatal death, Micrognathia, Neonatal death, Posteriorl... OMIM:618393
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Short nose, Turricephaly, Anteverted nares, Abnormal pinna morpholo... OMIM:618774
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick lower lip vermilion, Mandibular prognathia, Thick upper lip vermilion, Wide ... OMIM:309545
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... OMIM:618729
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Stenosis of the external auditory canal, Abnormal pinna morphology, ... OMIM:207410
Potocki-Shaffer Syndrome
Brachycephaly, Short philtrum, Parietal foramina, Depressed nasal tip, Downturned corners of mout... ORPHA:52022
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Tooth malposition, High palate, Cleft palate, Agenesis of corpus ca... OMIM:618603
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Protruding ear, Genu valgum, Low-set, posteriorl... ORPHA:502
20P12.3 Microdeletion Syndrome
Microtia, Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Thickened hel... ORPHA:261295
14Q11.2 Microdeletion Syndrome
Short nose, Low-set, posteriorly rotated ears, Exaggerated cupid's bow, High palate, Everted lowe... ORPHA:261120
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition, Prominent nose, Promine... ORPHA:627
6Q25 Microdeletion Syndrome
Plagiocephaly, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinn... ORPHA:251056
Stickler Syndrome Type 1
Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Cleft palate, Osteoarthr... ORPHA:90653
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormality of the philtrum, Abnormal pinna morphology, Mandibular pr... ORPHA:2673
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Sinusitis, Hearing abnormality, Abnormality of the dentition,... ORPHA:1452
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Short nose, Sensorineural hearing impairment, High palate, Dilated fourth ventricl... OMIM:300749
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus, Abnormality of the dentition, Gingivitis, Hearing impairment ORPHA:1008
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Protruding ear, Increased overbite, Dental crowding, Abnormal nasal septum m... OMIM:619941
Ritscher-Schinzel Syndrome 1
Brachycephaly, Decreased response to growth hormone stimulation test, Prominent occiput, Hydrocep... OMIM:220210
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, High, narrow palate, High palate, Cerebellar atrophy, Low-set ears, Hypoplasia of ... OMIM:608027
Crouzon Syndrome
Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding... OMIM:123500
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Brachyturricephaly, Microdontia, Death in in... OMIM:259775
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, U-Shaped upper lip vermilion, Death in infancy OMIM:129850
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Tooth agenesis, Umbilical hernia, Craniosynostosis, Thickened helices, Narrow palat... ORPHA:1555
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Death in childhood, Cubitus valgus, Sensorineural hearing impairment, Abnorm... OMIM:214100
Laron Syndrome
Delayed eruption of teeth, Prematurely aged appearance, Microdontia, Tooth agenesis, Depressed na... ORPHA:633
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Short nose, Narrow mouth, Death in infancy, Micrognathia, Protruding ... ORPHA:1495
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Apert Syndrome
Sensorineural hearing impairment, Brachyturricephaly, Bifid uvula, Ventriculomegaly, Narrow palat... ORPHA:87
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Choanal sten... OMIM:241310
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Oligodontia, Low-set ears, Microg... ORPHA:1787
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge OMIM:618302
Snijders Blok-Campeau Syndrome
Widely spaced teeth, High palate, Low-set ears, Enamel hypoplasia, Frontal bossing, Umbilical her... OMIM:618205
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Wide mouth, Umbilica... OMIM:616331
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Broad philtrum, Long philtrum, Craniosynostosis, Ventr... OMIM:605627
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Abnormal pinna morphology, Microtia, Low-set ears, Anal atresia, Microgna... OMIM:617925
Saul-Wilson Syndrome
Madelung deformity, Narrow nasal bridge, Sensorineural hearing impairment, Wide anterior fontanel... OMIM:618150
Perlman Syndrome
Short nose, High, narrow palate, Retrognathia, Abnormal pancreas morphology, Broad alveolar ridge... ORPHA:2849
Zimmermann-Laband Syndrome
Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorine... ORPHA:3473
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Wide anterior fontanel, Delayed cranial suture closure, Congenital hip d... ORPHA:357058
Holoprosencephaly 7
Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymmetry, Unilateral ... OMIM:610828
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Retrognathia, Micrognathia, Cleft palate OMIM:249710
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large fontanelles, Wide anterior fontanel, Anteverted nares, Apnea, Depressed nasal bridge OMIM:614883
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Hearing impairment, Micrognathia, Dentinoge... OMIM:613849
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Ventriculomegaly, Craniosynostosis, Narrow palate, Hydrocephalus, Cloverleaf skull, ... OMIM:123790
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Conical tooth, Anteverted nares, Underdeveloped nasal alae, Low-set... ORPHA:228390
Restrictive Dermopathy 2
Rectal prolapse, Respiratory distress, Hypoplastic facial bones, Microretrognathia, Convex nasal ... OMIM:619793
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Low-set, posteriorly rotated ears, Spina bifida occulta, Delayed ... ORPHA:235
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Short philtrum, Anteverted nares, Prominent nasal tip, Narrow mouth, Low-set ears,... OMIM:615834
Smith-Magenis Syndrome
Brachycephaly, Short nose, Chronic otitis media, Short philtrum, Corticospinal tract hypoplasia, ... ORPHA:819
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Short nose, Convex nasal ridge, Turricephaly, Abnormal antihelix morphology, Micro... ORPHA:2145
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Short nose, Abnormality of canine, Tarsal synostosis, Tooth malpos... ORPHA:363417
Odontochondrodysplasia
Retrognathia, Short nose, Respiratory distress, Delayed eruption of teeth, Death in infancy, Dent... ORPHA:166272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Short nose, High palate, Increased CSF protein concentration, Hypoplasia of the ma... OMIM:218000
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Respiratory distress, High palate, Death in infancy, Micrognathia, Cerebellar hypopla... OMIM:615042
Recombinant Chromosome 8 Syndrome
Brachycephaly, Thick lower lip vermilion, Anteverted nares, Gingival overgrowth, Low-set ears, Ab... OMIM:179613
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Decreased thalamic volume, Dilated fourt... ORPHA:370959
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Prominent nasal tip, Dilated third ventricle, Simple ear, Dilated f... OMIM:615574
Cofs Syndrome
Cutaneous photosensitivity, Sensorineural hearing impairment, Everted lower lip vermilion, Death ... ORPHA:1466
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Anteverted nares, Mandibular pro... OMIM:618672
Donnai-Barrow Syndrome
Short nose, Sensorineural hearing impairment, Wide anterior fontanel, Low-set ears, Intestinal ma... OMIM:222448
Monosomy 18P
Brachycephaly, Protruding ear, Short philtrum, Tooth malposition, Abnormal antihelix morphology, ... ORPHA:1598
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate OMIM:300676
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Cutis marmorata OMIM:615937
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Mandibular prognathia, Prominent metopic ridge, Cleft palate, Protruding ear ORPHA:85317
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Agnathia-Otocephaly Complex
Wide nose, Respiratory distress, Synotia, Narrow mouth, Mandibular aplasia, Low-set ears, Conduct... OMIM:202650
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Cleft palate, Acrocyanosis ORPHA:2901
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Aganglionic megacolon, Cerebellar vermis hypoplasia, Dilated fourth v... ORPHA:171680
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Macrodontia OMIM:300577
Temple Syndrome
Recurrent otitis media, Short philtrum, Wide nose, Hydrocephalus, Anteverted nares, High palate, ... OMIM:616222
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Broad jaw, Hearing impairment, Craniosynostosis, Thickened calvaria ORPHA:178377
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Short nose, Wide anterior fontanel, High palate, Low-set ears, Congenit... ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Dental crowding, Anteverted nares, Low-set ears, Downturned corners of mouth, Micr... OMIM:615761
Zaki Syndrome
Short philtrum, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, High palate, Dilated f... OMIM:619648
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Hydrocephalus, Anteverted nares, Mandibular prognathia, High pala... OMIM:620371
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Hyperactivity, Mandibular prognathia ORPHA:397973
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Microdontia, Bifid uvula, Tongue nodules, Bulbous nose, Bifid ... OMIM:258850
3Mc Syndrome 2
Limited elbow movement, High palate, Depressed nasal tip, Hearing impairment, Cleft upper lip, Do... OMIM:265050
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Long philtrum, Retrognathia, Protruding ear, Abnormal pinna morphology, High palat... OMIM:617452
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Wide nasal base, Abnormal earlobe morph... ORPHA:2980
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Oligodontia, High palate, Low-set ears, Frontal bossing, Micrognathia, Cleft palat... OMIM:600325
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Dental malocclusio... OMIM:615314
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Recurrent otitis media, Chiari type I malformation, Short philtrum, Hydrocep... OMIM:619575
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Skull asymmetry, Hydrocephalus, Antevert... OMIM:612938
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Long philtrum, Short nose, Short chin, Narrow nasal bridge, Low hanging columella,... OMIM:619383
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Notched primary central incisor OMIM:620062
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Low-set... ORPHA:2701
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Smith-Magenis Syndrome
Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Mand... OMIM:182290
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Ankle flexion contracture, Bilateral conductive hearing impairment, Low-set ears, Sma... OMIM:617802
Mpdu1-Cdg
Thin vermilion border, Wide anterior fontanel, Absence of acoustic reflex, Prominent frontal sinuses ORPHA:79323
Even-Plus Syndrome
Brachycephaly, Short nose, Dysplastic corpus callosum, Microtia, Bifid nasal tip, High palate, An... OMIM:616854
Distal Xq28 Microduplication Syndrome
Absent antihelix, Thick lower lip vermilion, Dental crowding, Short lingual frenulum, Microtia, H... ORPHA:293939
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Bilateral sensorineural hearing impairment, Talon cusp, Microdontia, Cleft pal... OMIM:605282
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Dandy-Walker malformation, Cerebellar atrophy, Macrotia, Smooth philtrum, Long philtr... ORPHA:438178
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Prominent nasal tip, Choroid plexus cyst, Thick ... ORPHA:293725
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... ORPHA:952
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Hyperactivity, Anteverted n... OMIM:614607
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Submucous cleft palate, Micrognathia, ... OMIM:620444
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Low-set ears, Hypoxemia, Micrognathia, Cleft palate, Apnea, Tachypnea, Cyanosis ORPHA:2257
Trisomy 4P
Abnormal palate morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abn... ORPHA:1738
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Genu recurvatum, Premature loss of teeth, Gingival ove... ORPHA:137834
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Livedo, Conical incisor, Carious teeth, Enamel hypoplasia, Facial telangiectasia, Convex nasal ri... OMIM:614564
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Low-set, posteriorly rotated ears, Sensorineural hea... ORPHA:1307
Dysostosis, Stanescu Type
Abnormal palate morphology, Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality o... ORPHA:1798
Parc Syndrome
Cleft palate OMIM:600331
Microphthalmia With Limb Anomalies
Thin vermilion border, Tarsal synostosis, Low-set, posteriorly rotated ears, Camptodactyly of 2nd... ORPHA:1106
Polyrrhinia
Orofacial cleft, Abnormal nasal bone morphology, Abnormal external nose morphology, Abnormal thir... ORPHA:141091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Brachycephaly, Anteverted nares, Abnormal thalamus morphology, Low-set ears, Intestinal malrotati... ORPHA:404440
Aicardi Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Dandy-Walker malformation, Choroid plexus cyst, D... OMIM:304050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High p... ORPHA:438216
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Fixed elbow flexion, Genu valgum, Dislocated radial head, Micrognathia, Broad ... ORPHA:166016
Donnai-Barrow Syndrome
Short nose, Sensorineural hearing impairment, Wide anterior fontanel, Intestinal malrotation, Pos... ORPHA:2143
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Peho-Like Syndrome
Short nose, Retrognathia, Cerebellar atrophy, Open mouth, Ventriculomegaly OMIM:617507
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Potocki-Shaffer Syndrome
Brachycephaly, Short nose, Turricephaly, Short philtrum, Parietal foramina, Downturned corners of... OMIM:601224
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth... ORPHA:2780
German Syndrome
Brachycephaly, Orofacial cleft, Hearing abnormality, High palate, Everted lower lip vermilion, Mi... ORPHA:2077
Breath-Holding Spells
Cyanosis OMIM:607578
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters, Fragile skin ORPHA:79406
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Broad alveolar ridges, Mandibular prognathia, Bony paranasal bossing, N... OMIM:218400
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg... ORPHA:2919
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, Long nose, Recurrent otitis media, Wide nose, Low insertion of columella, High pal... OMIM:619995
Frank-Ter Haar Syndrome
Broad alveolar ridges, Gingival overgrowth, Wide anterior fontanel, High palate, Low-set ears, Wo... OMIM:249420
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Mandibular prognathia, Pointed chin, Dolichocephaly, Celiac disease, Scaphocephaly