Gene Summary

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

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
abnormal facial morphology Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
decreased thigmotaxis Msx1tm1b(KOMP)Wtsi HET Early adult 5.31×10-06
increased circulating free fatty acids level Msx1tm1b(KOMP)Wtsi HET Early adult 3.77×10-05
increased heart weight Msx1tm1b(KOMP)Wtsi HET Early adult 1.11×10-05
cleft palate Msx1tm1b(KOMP)Wtsi HOM E18.5 0.00
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology

Images

7 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
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
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Conductive hearing impairment, R... ORPHA:199306
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Syngnathia
Cleft palate OMIM:119550
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontane... ORPHA:1832
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneu... ORPHA:99772
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Conductive hearing impairment, Recurrent otitis media, L... OMIM:608545
Bartsocas-Papas Syndrome 2
Axillary pterygium, Wide anterior fontanel, Overfolded helix, Bilateral cleft lip and palate, Low... OMIM:619339
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cryptorchidism, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Frontal bossing, Periapica... ORPHA:3352
Rhizomelic Syndrome
Hip dislocation, Micrognathia, Wide anterior fontanel OMIM:268250
Adenylosuccinate Lyase Deficiency
Long philtrum, Hypointensity of cerebral white matter on MRI, Short nose, Flat occiput, Smooth ph... ORPHA:46
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue n... OMIM:252100
Craniometadiaphyseal Dysplasia
Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Wide anterior fontanel, Dental crowdin... OMIM:269300
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Cleft palate, Dolichocephaly, Elbow flexion contracture, Malar flattening OMIM:601561
Orofacial Cleft 15
Cryptorchidism, Agenesis of lateral incisor, Bulbous nose, Midface retrusion, Low-set ears, Protr... OMIM:616788
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Wide anterior fontanel, Frontal bossing, Low-set ears, Posteriorly rotated ears, S... OMIM:614541
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Recurrent ... OMIM:225410
Dandy-Walker Malformation With Postaxial Polydactyly
Frontal bossing, Microretrognathia, Partial absence of cerebellar vermis, Posterior fossa cyst at... OMIM:220220
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Frontal bossing, Cerebellar hypoplasia, Dolichocephaly, Micrognathia, H... ORPHA:1538
Pycnodysostosis
Wormian bones, Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal si... OMIM:265800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Cryptorchidism, Agenesis of corpus callosum, Short nose, Midface retrusion, Unilam... OMIM:618577
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Non-Distal Trisomy 10Q
Convex nasal ridge, Cryptorchidism, Short nose, Frontal bossing, Low-set, posteriorly rotated ear... ORPHA:1695
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Lissencephaly, X-Linked, 2
Long philtrum, Wide anterior fontanel, Long upper lip, Thin upper lip vermilion, Low-set ears, Hi... OMIM:300215
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Congenital hip dislocation, ... ORPHA:2412
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Wide anterior fontanel, Abnormality of the el... ORPHA:3098
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Gómez-López-Hernández Syndrome
Thin vermilion border, Midface retrusion, Cerebellar vermis hypoplasia, Low-set ears, Abnormal ce... ORPHA:1532
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external auditory can... OMIM:615706
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease... OMIM:259420
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Bulbous nose, Underdeveloped nasal alae, Exaggerated cupid's bow, Cle... ORPHA:364577
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
Brachydactyly, Type B1
Wide anterior fontanel, Vertebral fusion, Delayed cranial suture closure, Joint contracture of th... OMIM:113000
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Restrictive ventilatory defect, Downturned corners of mouth, Midface retrusion, C... OMIM:255995
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Hearing impairment, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Saethre-Chotzen Syndrome
Convex nasal ridge, Narrow palate, Lambdoidal craniosynostosis, Cleft of chin, Oxycephaly, Pariet... OMIM:101400
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose, Frontal bossing OMIM:218010
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Microcephaly, Abnormality of the dentition, Abnormality of the outer ... ORPHA:217340
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Wide anterior fontanel, Midface retrusion... OMIM:601853
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Abnormality of dent... ORPHA:85199
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Pallister W Syndrome
Agenesis of central incisor, Frontal bossing, Agenesis of maxillary central incisor, Wide nasal b... OMIM:311450
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Anterior plagiocephaly, Front... ORPHA:163649
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Arnold-Chiari malformation, Broad philtrum, Uplifted earlo... ORPHA:487825
Mental Retardation, Autosomal Dominant 48
Anteverted nares, Open mouth, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ce... OMIM:617751
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Wide anterior fontanel, Overfolded helix, Midface retrusion, Low-se... OMIM:617746
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Trigonocephaly, Brachycephaly, Bifid nasal tip, Bifid nose, Micrognathia, Prominent... OMIM:275595
Pyle Disease
Delayed eruption of teeth, Carious teeth, Limited elbow extension, Genu valgum, Mandibular progna... OMIM:265900
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Craniosynostosis, Large fontanelles, Arnold-Chiari malform... ORPHA:171839
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Wide anterior fontanel, Low-set, posteriorly rotated ears, Mandibula... ORPHA:2963
Acrofacial Dysostosis Syndrome Of Rodriguez
Short philtrum, Narrow mouth, Wide anterior fontanel, Low-set ears, Posteriorly rotated ears, Hig... OMIM:201170
Auriculocondylar Syndrome 2
Apnea, Short mandibular rami, Narrow mouth, Dental crowding, Overfolding of the superior helices,... OMIM:614669
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Mandibular prognathia, Abnormal cerebral white matter morphology... OMIM:600991
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... OMIM:241310
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypoplasia of the corpus callosum, Mandibular prognathia, Cerebral atrophy,... OMIM:618006
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Gloss... OMIM:311895
Holoprosencephaly 5
Semilobar holoprosencephaly, Macrotia, Holoprosencephaly, Deep philtrum, Microcephaly, Alobar hol... OMIM:609637
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Obtuse angle of mandible, Parietal bossing... ORPHA:85184
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling OMIM:618383
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate, Micrognath... ORPHA:2015
Developmental And Epileptic Encephalopathy 49
Short philtrum, Open mouth, Frontal bossing, Macrotia, Ventriculomegaly, Thick upper lip vermilio... OMIM:617281
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm... OMIM:216300
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 lip, Unilateral cleft palate OMIM:613705
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Conductive hearing imp... ORPHA:93262
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia,... ORPHA:163961
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Short chin, Pneumonia, Low-set ears, High palate, Retrognathia, Anteverted nares, Chr... OMIM:614069
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Narrow mouth, Wide anterior fontanel, Congenital hip dislocation, M... OMIM:219200
Acromelic Frontonasal Dysostosis
Cryptorchidism, Broad nasal tip, Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventricu... OMIM:603671
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Congenital finger flexion contractures, Dysphagia, High, narrow palat... ORPHA:166108
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Prematurely aged appearance, Short philtrum, Tooth malposition, Abnormality of th... ORPHA:1387
Van Maldergem Syndrome 1
Wide anterior fontanel, Downturned corners of mouth, Midface retrusion, Conductive hearing impair... OMIM:601390
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Dysgenesis of the cerebellar vermis, Dilated third ventricle, Micrognathia, Dep... ORPHA:397715
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Smooth philtrum, Low-set ears, Posteriorly rotated ears, Brachycephaly, R... OMIM:263210
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Short philtrum, Macrotia, Ventriculomegaly, Decreased testicular size, Dolichocep... OMIM:615433
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Neuralgic Amyotrophy
Acrocyanosis, Narrow mouth, Cleft palate ORPHA:2901
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Crouzon Disease
Convex nasal ridge, Narrow palate, Frontal bossing, Narrow internal auditory canal, Midface retru... ORPHA:207
Van Maldergem Syndrome 2
Wide anterior fontanel, Downturned corners of mouth, Midface retrusion, Conductive hearing impair... OMIM:615546
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Pulmonary arterial hypertension, Dilated third ventricle, Exaggerated cupi... ORPHA:464738
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Craniofacial Dyssynostosis
Short philtrum, Craniosynostosis, Open mouth, Underdeveloped nasal alae, Frontal bossing, Hypopla... ORPHA:1516
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Cleft palate, Increased overbite, Cl... OMIM:618761
Fried Syndrome
Short philtrum, Macrotia, Thickened calvaria, Abnormal cerebellum morphology, Hearing impairment,... ORPHA:85335
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Open mouth, Deep philtrum, Everted lower lip vermilion OMIM:137550
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short nose, Hypoplasia of the corpus callosum, Abnormal palate morphology, Ventricu... ORPHA:1495
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Wide anterior fontanel, Thin upper lip vermilion, Low-set ears, Posteriorly rotate... OMIM:613623
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Supernumerary tooth, ... ORPHA:3145
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Cryptorchidism, Abnormal shape of the occiput, Agenesis of corpus call... OMIM:218350
Mental Retardation, Autosomal Dominant 20
Short philtrum, Short nose, Downturned corners of mouth, Abnormal periventricular white matter mo... OMIM:613443
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Pontocerebellar Hypoplasia, Type 3
Long philtrum, Hypoplasia of the pons, Downturned corners of mouth, Macrotia, Hypoplasia of the c... OMIM:608027
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Cryptorchidism, Short nose, Frontal bossing, Dental crowding, Midface retrusion, C... OMIM:616331
Pettigrew Syndrome
High-frequency hearing impairment, Mandibular prognathia, Ventriculomegaly, Wide mouth, Thick ver... OMIM:304340
Cornelia De Lange Syndrome 5
Long philtrum, Thin vermilion border, Cryptorchidism, Anteverted nares, Downturned corners of mou... OMIM:300882
Ethanolaminosis
Cardiomegaly OMIM:227150
Branchiooculofacial Syndrome
Cryptorchidism, Premature graying of hair, Branchial anomaly, Overfolded helix, Pyloric stenosis,... OMIM:113620
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Abnormal cerebellar vermis morphology, Bulbous nose, Macrotia, Vascular skin abnormality, Bilater... ORPHA:544488
Orofaciodigital Syndrome Type 14
Open operculum, Sleep apnea, Bulbous nose, Microretrognathia, Hypoplasia of the corpus callosum, ... ORPHA:434179
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Short nose, Large fontanelles, Recurrent upper respiratory tract inf... ORPHA:3078
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Hypoplasia of the maxilla OMIM:608432
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Laryngeal hypoplasia, Conductive hearing impairment, ... OMIM:202650
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Frontal bossing, Absent/hypoplastic paranasal sinuses, Aplasia/Hypoplasia... ORPHA:488437
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricle, Dilated fourt... OMIM:220200
Bloom Syndrome
Cryptorchidism, Agenesis of maxillary lateral incisor, Bronchiectasis, Facial telangiectasia in b... OMIM:210900
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Anterior hypopituitarism, Death in infancy, Pulmonary hypopla... OMIM:241800
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Maxillonasal Dysplasia
Open bite, Midface retrusion, Mandibular prognathia, Tooth agenesis, Cleft palate, Microdontia, H... ORPHA:1248
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Midface retrusion, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Protruding ... OMIM:618737
Peho-Like Syndrome
Pachygyria, Short nose, Open mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebell... OMIM:617507
Temple Syndrome
Cryptorchidism, Short philtrum, Frontal bossing, Decreased testicular size, Recurrent otitis medi... OMIM:616222
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Restrictive ventilatory defect, Short nose, Macrotia, Ventriculomega... OMIM:218000
Zellweger Syndrome
Abnormality of the tongue, Wide anterior fontanel, Pyloric stenosis, Death in infancy, Flat occip... ORPHA:912
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Frontal bossing, Hypoplasia of the maxilla OMIM:300676
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Brachycephaly, High palate, Retrognathia, Microcephaly ORPHA:2528
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyr... ORPHA:171703
Sener Syndrome
Wide anterior fontanel, Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, Posteriorly rotated... OMIM:606156
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Midface retrusion, Mandibular prognathia, Ventriculomegaly, Trigonocephaly, High palat... ORPHA:168624
17P13.3 Microduplication Syndrome
Narrow mouth, Short nose, Frontal bossing, Hypoplasia of the corpus callosum, Ventriculomegaly, L... ORPHA:217385
X-Linked Intellectual Disability, Sutherland-Haan Type
Macrotia, Mandibular prognathia, Anal atresia, Brachycephaly, Hypoplasia of the maxilla ORPHA:93950
Pierpont Syndrome
Prominent median palatal raphe, Cryptorchidism, Thin vermilion border, Large fleshy ears, Arnold-... OMIM:602342
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomega... OMIM:618603
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Otodental Syndrome
Progressive sensorineural hearing impairment, Long philtrum, Carious teeth, Abnormal dental ename... ORPHA:2791
Saul-Wilson Syndrome
Prominent superficial veins, Micrognathia, Wide anterior fontanel OMIM:618150
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Wormian bones, Camptodactyly of finger, Abnormality of the philtrum, T... ORPHA:2863
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Large fontanelles, Mandibular prognathia, Nata... OMIM:259775
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia, Sensorineural hearing impairment, Ant... OMIM:166750
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Dolichocephaly, Microdontia, Widely spaced teeth OMIM:190320
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Spina bifida, Narrow mouth, Short nose, Downturned corners of mouth, Midface retrusion... ORPHA:1327
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Recurrent otitis media, Thick upper lip vermilion, Micrognathia, Wide... OMIM:617616
Apert Syndrome
Narrow palate, Ovarian neoplasm, Large fontanelles, Mandibular prognathia, Choanal atresia, Respi... ORPHA:87
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:604213
Tetrasomy 5P
Long philtrum, Respiratory distress, Wide anterior fontanel, Midface retrusion, Low-set ears, Pos... ORPHA:3309
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cutis marmorata, Hemimegalen... OMIM:615937
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge, Hearing imp... OMIM:300958
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Abnormality of the pinna, Cleft palate, High palate, Hypoplasia ... OMIM:246560
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, P... ORPHA:3270
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, Flat occiput,... OMIM:617412
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Minimal subcutaneous fat, Craniosynostosis, Narrow palate, Wide anterior fontanel, D... OMIM:182212
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Abnormality of the maxilla, Superiorly displaced ears ORPHA:329252
Achondroplasia
Frontal bossing, Midface retrusion, Conductive hearing impairment, Recurrent otitis media, Megale... OMIM:100800
Cebalid Syndrome
Short nose, Midface retrusion, Platystencephaly, Abnormality of the pinna, Plagiocephaly, Low-set... OMIM:618774
Cornelia De Lange Syndrome 2
Anteverted nares, Downturned corners of mouth, Ventriculomegaly, Microcephaly, Smooth philtrum, T... OMIM:300590
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Short philtrum, Overfolded helix, Hypoplasia of the corpus callosum, Ventriculome... OMIM:609757
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Polyrrhinia
Supernumerary naris, Abnormal third ventricle morphology, Abnormality of the nasal bone, Oral cle... ORPHA:141091
Mental Retardation, Autosomal Dominant 29
Narrow palate, Pointed chin, Dental crowding, Thin upper lip vermilion, Low-set ears, Brachycepha... OMIM:616078
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Downturned corners of mouth, Wide anterior fontanel, Pierre-Robin sequence,... OMIM:217980
Neonatal Adrenoleukodystrophy
Wide anterior fontanel, Low-set, posteriorly rotated ears, Abnormal palate morphology, Sensorineu... ORPHA:44
Otosclerosis 10
Otosclerosis OMIM:615589
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Hypoplasia of the corpus callosum, Cerebral atrophy, Central apnea, Cerebellar a... ORPHA:320385
Chromosome 22Q11.2 Duplication Syndrome
Abnormality of the pinna, Low-set ears, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Gapo Syndrome
Wide anterior fontanel, Thick lower lip vermilion, Frontal bossing, Prominent scalp veins, Abnorm... OMIM:230740
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Anteverted nares, Downturned corners of mou... OMIM:613792
Anauxetic Dysplasia 3
Genu valgum, Oligodontia, Hip subluxation, Wide anterior fontanel, Midface retrusion, Plagiocepha... OMIM:618853
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Cerebral white matter atrophy, Respiratory distress, Death in infancy, Cerebellar hyp... OMIM:615042
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Depressed nasal bridge, Broad uvula, Broad ... ORPHA:2804
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Microgna... ORPHA:2521
Perching Syndrome
High palate, Respiratory distress, Depressed nasal bridge OMIM:617055
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxi... ORPHA:1193
Marden-Walker Syndrome
Long philtrum, Narrow mouth, Wide anterior fontanel, Radioulnar synostosis, Pyloric stenosis, Low... OMIM:248700
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Abnormality of ... ORPHA:2673
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia, Stillbirth OMIM:183300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormality of the dentition, Hearing impairment, Gingivitis, Hydrocephalus ORPHA:1008
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel, Fron... OMIM:207410
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Midface retrusion, Sensorineural hearing impairment, Cleft palate, Bifid u... OMIM:604841
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Agenesis of corpus callosum, Hydrocephalus, Sagittal craniosynostosis, Cerebellar ve... ORPHA:459061
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Dental malocclusion, Microtia, Tongue atrophy OMIM:141300
Anonychia With Flexural Pigmentation
Carious teeth, Macular telangiectasia ORPHA:69125
Arthrogryposis, Distal, Type 1C
Pursed lips, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Camptodactyly of toe, ... OMIM:619110
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Joint contracture of the 5th finger, Widely-spaced incisors, Conical ma... OMIM:601668
Clark-Baraitser syndrome
Genu valgum, Frontal bossing, Genu recurvatum, Maxillary lateral incisor microdontia, Exaggerated... OMIM:300602
Naegeli-Franceschetti-Jadassohn Syndrome
Ectodermal dysplasia, Abnormal dental enamel morphology ORPHA:69087
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Short nose, Anteverted nares, Downturned corners of mouth, Front... OMIM:605627
Acromelic Frontonasal Dysplasia
Cryptorchidism, Broad nasal tip, Choroid plexus cyst, Large fontanelles, Ventriculomegaly, Thick ... ORPHA:1827
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Brachycephaly, Thick lower lip verm... OMIM:309545
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Large fontanelles, Everted lower lip vermili... ORPHA:181393
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Downturned corners of mouth, Thick lower lip vermilion, Midface retrusion, Ventri... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Cerebral atrophy, Decreased response to growth hormone stimuation test... OMIM:616430
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Macrotia, Smooth philtrum, Thin upper lip vermilion, Cerebellar atroph... ORPHA:438178
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Autosomal Recessive Cutis Laxa Type 2A
Long philtrum, Abnormal cerebellar vermis morphology, Cerebellar malformation, Prominent nasolabi... ORPHA:357058
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Midface retrusio... OMIM:601812
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large fontanelles, Frontal bossing, Conductive hearing impairment, Fla... ORPHA:2780
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Malar flattening, Hypoplasia of the maxilla OMIM:122880
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Anteverted nares, Downturned corners of mouth, Conductive hearing impairment, Hyp... OMIM:618672
2Q32Q33 Microdeletion Syndrome
Convex nasal ridge, Thin vermilion border, Oligodontia, Long philtrum, Narrow mouth, Anteverted n... ORPHA:251019
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle apl... OMIM:602483
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Long philtrum, Short nose, Macrotia, Cerebellar hypoplasia, Microcephaly, Progressive microcephal... OMIM:300749
Coffin-Siris Syndrome 10
Posteriorly rotated ears, Wide mouth, Persistence of primary teeth, Low-set ears OMIM:618506
16P13.2 Microdeletion Syndrome
Cryptorchidism, Sleep apnea, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ve... ORPHA:500055
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia ORPHA:63442
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Smith-Magenis Syndrome
Midface retrusion, Mandibular prognathia, Abnormality of the larynx, Ventriculomegaly, Abnormalit... OMIM:182290
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Short nose, Frontal bossing, Microretrognathia, Aganglionic megacolon, Abnormalit... OMIM:613603
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Hypoplasia of the corpus callosum, Deep philtrum, Arnold-Chiari type... OMIM:618859
Lujan-Fryns Syndrome
Camptodactyly of finger, Short philtrum, Dental crowding, Abnormality of the dentition, Low-set e... ORPHA:776
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Potocki-Shaffer Syndrome
Short philtrum, Depressed nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Pari... ORPHA:52022
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Delayed closure of the anterior fontanel... OMIM:607812
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Everted lower lip vermilion, Abnormality of the ... OMIM:616920
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Narrow palate, Choanal stenosis, Large fontanelles,... OMIM:101200
Acrofrontofacionasal Dysostosis 2
Wide anterior fontanel, Overfolded helix, Low-set ears, Posteriorly rotated ears, Brachycephaly, ... OMIM:239710
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel OMIM:275100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Decreased calvarial ossifica... OMIM:617925
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Short nose, Downturned corners of mouth, Underdeveloped nasal alae... OMIM:601224
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Oligodontia, Frontal bossing, Megalencephaly, Umbilical hernia, Low-set ears, Pos... OMIM:600325
Aicardi Syndrome
Recurrent pneumonia, Prominence of the premaxilla, Spina bifida, Arnold-Chiari malformation, Cavu... OMIM:304050
Fibrochondrogenesis 1
Long philtrum, Narrow mouth, Stillbirth, Wide anterior fontanel, Frontal bossing, Widely patent s... OMIM:228520
Atkin-Flaitz Syndrome
Genu valgum, Frontal bossing, Genu recurvatum, Maxillary lateral incisor microdontia, Exaggerated... OMIM:300431
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Mandibular prognathia, High palate, Wide nasal b... ORPHA:2180
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Narrow mouth, Stillbirth, Wide anterio... OMIM:304120
Mental Retardation, Buenos Aires Type
Carious teeth, Partial agenesis of the corpus callosum, Mandibular prognathia, Wide mouth, Wide n... OMIM:249630
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Micrognathia, Death in infancy, Wide anterior fontanel OMIM:619135
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Radioulnar synostosis, Bilateral sensorineural hearing impairment,... OMIM:605282
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... ORPHA:10
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Absent septum pellucidum, Micrognathia, Arrhinenceph... ORPHA:2189
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Temporomandibular joint anky... ORPHA:2872
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
20P13 Microdeletion Syndrome
Wide anterior fontanel, Bilateral external ear deformity, Hypoplastic helices, Smooth philtrum, T... ORPHA:313781
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Abnormality of the antihelix, Downturned corner... ORPHA:1598
Cleidocranial Dysplasia
Open bite, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Sleep apnea, Large fo... ORPHA:1452
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Holoprosencephaly 7
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Absent nasal septal cartilage, Depress... OMIM:610828
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormalit... ORPHA:352530
Campomelic Dysplasia
Apnea, Respiratory distress, Wide anterior fontanel, Low-set ears, Hearing impairment, Tracheobro... OMIM:114290
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Narrow palate, Intestinal malrotation, Retrognathia, Increase... OMIM:613684
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of the maxilla OMIM:156510
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Low-set, posteriorly rotated ears, Incisor ma... OMIM:615502
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Macrotia, Thick vermilion border, Hypodontia, High palate, Micrognat... OMIM:617061
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Macrotia, Mandibular prognathia, Cupped ear, Hypoplasia of the maxilla ORPHA:93945
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Slender nose, Short nose, Macrotia, Wide mouth, Smooth philtrum, Thin upper lip v... OMIM:615419
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Marshall-Smith Syndrome
Apnea, Prominence of the premaxilla, Short philtrum, Short mandibular rami, Frontal bossing, Over... OMIM:602535
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Thin vermilion border, Carious teeth, Short nose, Macrotia, Low-set, posteriorly ... ORPHA:2701
Gorlin Syndrome
Cryptorchidism, Carious teeth, Frontal bossing, Mandibular prognathia, Wide nasal bridge, Brachyc... ORPHA:377
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Downturned corners of mouth, Pyl... ORPHA:2409
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Midface retrusion, Unilateral cleft lip, Low-set ears, Posteriorly rotated ears, Sup... ORPHA:1787
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Aplasia/Hypoplasi... ORPHA:2145
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Narrow palate, Dental crowding, Intestinal malrotatio... OMIM:305450
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Craniosynostosis, Narrow palate, Narrow mouth, Choanal atresia, Hydrocephalus, Tu... ORPHA:1555
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Microretrognathia, Hypoplasia of the corpus ca... ORPHA:89844
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Wide anter... OMIM:200990
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Osteolysis Syndrome, Recessive
Elbow flexion contracture, Knee flexion contracture, Hypoplasia of the maxilla OMIM:259610
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimuation test, Low-set ears, Anal atresia, Prominent occip... OMIM:220210
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Calvarial skull defect, Holoprosencephaly, Cl... ORPHA:945
Edinburgh Malformation Syndrome
Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Frontal bossing, Ch... ORPHA:1895
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, Low-set, posteriorly rotated ears, Everted lower lip ver... ORPHA:261120
Hallermann-Streiff Syndrome
Cryptorchidism, Thin vermilion border, Wormian bones, Narrow palate, Narrow mouth, Underdeveloped... OMIM:234100
Dubowitz Syndrome
Abnormality of the antihelix, Craniosynostosis, Respiratory insufficiency, Cutis marmorata, Spina... ORPHA:235
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Agenesis of corpus callosum, Type II lissenceph... ORPHA:370959
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Underdeveloped nasal alae, Frontal bossing, Calvarial skull defect, Abnormality o... ORPHA:228390
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Anencephaly, Cleft palate, Micrognathia, Hydroceph... OMIM:614120
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Narrow palate, Narrow mouth, Choanal stenosis, Agenesis of corpus callosum, Pal... OMIM:123790
Baraitser-Winter Syndrome 1
Cryptorchidism, Overfolded helix, Oral cleft, Sensorineural hearing impairment, Trigonocephaly, L... OMIM:243310
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Low-set ears, Neonatal r... ORPHA:2257
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Sensorineural hearing impairment, Cortical dysplasia, Decreased testicular size, ... OMIM:612513
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Frank-Ter Haar Syndrome
Wormian bones, Simple ear, Wide anterior fontanel, Flat occiput, Wide mouth, Low-set ears, Delaye... OMIM:249420
Mental Retardation, Autosomal Dominant 23
Long philtrum, Bulbous nose, Downturned corners of mouth, Dental crowding, Drooling, Smooth philt... OMIM:615761
Smith-Magenis Syndrome
Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Micrognathia, Depressed ... ORPHA:819
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Macrotia, Hypoplasia of the corpus callosum, Wide mouth, Microcephaly, Micr... OMIM:300934
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... ORPHA:2919
Ring Chromosome 8 Syndrome
Short nose, Frontal bossing, Abnormal palate morphology, Round ear, Anteverted nares ORPHA:1450
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Wide anterior fontanel, Frontal bossing, Dental crowding, Midface re... OMIM:268310
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Hip dislocation, Dolichocephaly, Large fl... OMIM:203550
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Frontal bossing, Death in infancy, Dentinogenesi... ORPHA:166272
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Bulbous nose, Conductive hearing impairment, Low-set, posteriorly rotated ears, Ab... ORPHA:502
Fetal Trimethadione Syndrome
Short nose, Overfolded helix, Midface retrusion, Low-set ears, Abnormality of the helix, Brachyce... ORPHA:1913
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory fail... OMIM:614399
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Dental malocclusion, Large earlobe, Depressed nasal bridge OMIM:155050
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Mandibular prognathia, Abnormality of the zygomatic bone, Flat occiput, Unilat... ORPHA:2511
Smith-Kingsmore Syndrome
Long philtrum, Wide anterior fontanel, Open mouth, Frontal bossing, Midface retrusion, Smooth phi... OMIM:616638
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Glutamine Deficiency, Congenital
Apnea, Thin vermilion border, Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, E... OMIM:610015
Mental Retardation, Autosomal Dominant 26
Wide nasal base, Short philtrum, Narrow mouth, Wide mouth, Thick vermilion border, Prominent nasa... OMIM:615834
Perlman Syndrome
Cryptorchidism, Thickened helices, Short nose, Open mouth, Dolichocephaly, Smooth philtrum, Wide ... ORPHA:2849
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Ulnar deviation of the wrist, Sensorineural hearing impair... ORPHA:1529
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, Bulbous nose, Drooling, Hypoplasia of the corpus callosum, Mandibular prognathia,... OMIM:612936
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Short nose, Bulbous nose, Pointed chin, Smooth philtrum, Prolonged neonatal ja... OMIM:618828
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Frontal bossing, Midface retrusion, Malar flattening, Prolonged neonata... OMIM:613038
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Frontal bossing, Premature loss of primary teeth, Dolichocephaly OMIM:241510
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Wormian bones OMIM:614450
German Syndrome
Cryptorchidism, Open mouth, Midface retrusion, Everted lower lip vermilion, Wide nasal bridge, Or... ORPHA:2077
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Long philtrum, Delayed eruption of teeth, Short chin, Underdeveloped nasal a... OMIM:618825
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Abnormality of the antihelix, Hypoplasi... ORPHA:178303
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Short philtrum, Depressed nasal tip, Thickened helices, Bulbous nose, Choroi... ORPHA:293725
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Pilodental Dysplasia With Refractive Errors
Ectodermal dysplasia, Conical incisor, Hypodontia OMIM:262020
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Cerebellar vermis hypoplasia, Death in infancy, Cleft soft palate... ORPHA:99742
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal, Anodontia, Low-... OMIM:264475
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Narrow mouth, Malar flattening, Microtia, Hypoplasia of the max... ORPHA:261295
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Narrow mouth, Narrow internal auditory ... ORPHA:990
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Nance-Horan Syndrome
Mandibular prognathia, Protruding ear, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Frontal bossing, Everted lower ... ORPHA:1515
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dental crowding, Hypoplasia of the corpus callosum, Cerebral atrophy, Central apnea, Brachycephal... OMIM:615031
Jackson-Weiss Syndrome
Frontal bossing, Midface retrusion, Mandibular prognathia, Abnormal palate morphology, Turricepha... ORPHA:1540
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Sensorineural hearing impairment, Dentinogenesis imper... ORPHA:71267
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Dental crowding, Oxycephaly, Mandibular prognathia, Abnormality of the pinna, L... OMIM:101120
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Broad jaw, Hearing impairment, Brachycephaly ORPHA:178377
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Wide anterior fo... ORPHA:457279
Crouzon Syndrome
Sleep apnea, Lambdoidal craniosynostosis, Frontal bossing, Dental crowding, Conductive hearing im... OMIM:123500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Lissencephaly, Umbilical hernia, Protruding tongue, Sensorineural h... OMIM:612938
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Frontal bossing, Everted lower lip vermilion, Microdontia, Everted upp... ORPHA:181
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Mandibular prognathia, Protruding ear, Cleft palate, Prominent metopic ridge ORPHA:85317
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Long philtrum, Cavum septum pellucidum, Respiratory distress, Extra-axial cerebrospi... OMIM:619383
Stickler Syndrome Type 1
Long philtrum, Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Hypoplasia of the ... ORPHA:90653
Atelosteogenesis, Type Iii
Frontal bossing, Elbow dislocation, Midface retrusion, Knee dislocation, Flat acetabular roof, Pr... OMIM:108721
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Frontal bossing, Persistence of primary teeth, Erythema, Recurrent pneumonia, H... OMIM:147060
Frontonasal Dysplasia 1
Conductive hearing impairment, Hypoplastic frontal sinuses, Low-set ears, Median cleft palate, Jo... OMIM:136760
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased CSF lactate, Respiratory insufficiency, Tongue fasciculations, Ab... ORPHA:238329
Multicentric Carpotarsal Osteolysis Syndrome
Carpal osteolysis, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla OMIM:166300
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Telangiectasia OMIM:614564
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Tarsal synostosis, Abnormality of canin... ORPHA:363417