Gene Summary

fibroblast growth factor 10
Gsfaey17,  FGF-10,  AEY17

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal behavior Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.82×10-06
increased circulating HDL cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.00×10-05
decreased locomotor activity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.61×10-08
decreased leukocyte cell number Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.23×10-06
decreased lean body mass Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 5.69×10-05
increased circulating cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 1.01×10-05
decreased thigmotaxis Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 1.82×10-06
decreased grip strength Fgf10tm1b(EUCOMM)Wtsi HET Early adult 6.51×10-05
preweaning lethality, complete penetrance Fgf10tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased total body fat amount Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 2.51×10-05

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
Aorta  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

9 Images


XRay Images Whole Body Dorso Ventral

12 Images


M-Mode Images

31 Images


XRay Images Whole Body Lateral Orientation

12 Images


XRay Images Skull Dorso Ventral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Fgf10 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 associated to Fgf10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fgf10 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Impaired mastication, Anterior open-bite mal... ORPHA:88661
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Low-set ears, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/a... ORPHA:2863
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Sparse eyebrow, Sparse eyelashes, Hypospadias, Bilateral cleft lip and palate, Ename... OMIM:618874
Meckel Diverticulum
Meckel diverticulum OMIM:155140
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Downslanted palpebral fissures, Abnormality of the outer ear, Micro... ORPHA:94065
Long eyelashes, Cataract OMIM:190330
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Ventricular septal def... OMIM:181450
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Downslanted palpebra... OMIM:115470
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Unilateral cryptorchidism, Bifid tongue, Bifid uvula, Lobu... OMIM:174300
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Alopecia, Skin tags, Alopecia totalis, O... OMIM:263650
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... OMIM:274000
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Prominent ... ORPHA:1703
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
17Q11.2 Microduplication Syndrome
Malar flattening, Thin vermilion border, Bifid nose, Enamel hypoplasia, Thick nasal alae, Deviate... ORPHA:139474
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft ... ORPHA:1166
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip, Cryptorchidism ORPHA:1074
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Telangiectasia of the skin, Alopecia, Abnormality of the dent... ORPHA:2092
Tonne-Kalscheuer Syndrome
Narrow mouth, Small nail, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Malar fl... OMIM:300978
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... OMIM:609029
Fontaine Progeroid Syndrome
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Coarse hair, Microdontia, Dow... OMIM:612289
Burning Mouth Syndrome
Parageusia, Burning mouth, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain... ORPHA:353253
Robinow Syndrome, Autosomal Dominant 1
High palate, Triangular mouth, Depressed nasal bridge, Clitoral hypoplasia, Delayed eruption of t... OMIM:180700
De Barsy Syndrome
High palate, Sparse hair, Excessive wrinkled skin, Congenital hip dislocation, Delayed eruption o... ORPHA:2962
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia, Micropenis OMIM:618021
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Cryptorchidism, Cleft palate, Micropenis, Hypospadias, ... OMIM:600460
Microphthalmia, Isolated 3
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia OMIM:611038
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, Bulbous nose, High, narrow palate, Upslanted palpebral fissure, Absent lacrimal punct... OMIM:273390
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Eclabion, Impaired mastication, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hy... ORPHA:99798
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Inguinal herni... ORPHA:3080
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atr... ORPHA:2255
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia, Pal... OMIM:226650
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Upslanted palpebral fissure, Pancreat... OMIM:200995
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... ORPHA:1916
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Otitis media, Hypo... OMIM:122470
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Downslanted palpebral fissures, Telecanthus, A... ORPHA:1993
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Hyperhidrosis, Carious teeth ORPHA:79406
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Short long bo... OMIM:263520
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Convex nasal ridge, Carious teeth OMIM:614564
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Bulbous nose, Malar flattening, Depressed nasal bridge, Enamel hypoplasia, Anteverte... OMIM:600991
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Hypospadias, Short nose, An... ORPHA:1355
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... ORPHA:96170
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Abnormal pinna morphology, Short sternum, Hypoplasia of the ra... OMIM:266910
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Ptosis, Microphthalmia OMIM:120433
Restrictive Dermopathy
Multiple joint contractures, Sparse hair, Sparse eyebrow, Short nail, Sparse or absent eyelashes,... ORPHA:1662
Shaheen Syndrome
Enamel hypoplasia, Hypohidrosis, Carious teeth OMIM:615328
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract, Microphthalmia ORPHA:2528
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Hypohidrosis, Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abno... ORPHA:314652
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... OMIM:154400
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Shawl scrotum, Antever... OMIM:615942
Czeizel-Losonci Syndrome
High palate, Tracheoesophageal fistula, 2-3 finger syndactyly, Single transverse palmar crease, P... ORPHA:2437
Intellectual Disability-Strabismus Syndrome
High palate, Recurrent gastroenteritis, Wide mouth, Abnormality of the dentition, Rocker bottom f... ORPHA:363528
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... ORPHA:2879
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... OMIM:607323
Barber-Say Syndrome
High palate, Absent nipple, Wide mouth, Hypertrichosis, Sparse eyebrow, Microtia, first degree, D... OMIM:209885
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... ORPHA:401935
Marden-Walker Syndrome
High palate, Cleft palate, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypoplasia, Talipes... OMIM:248700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Kilquist Syndrome
Wide mouth, Gastroesophageal reflux, Intestinal malrotation, Xerostomia, Choanal atresia, Midgut ... OMIM:619080
48,Xxyy Syndrome
Apnea, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Ra... ORPHA:10
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... OMIM:612290
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Webbed neck, Triangular mouth, Sparse hair, Overfolded helix, Coarse hair, Ventricul... OMIM:617506
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Narrow maxilla,... OMIM:617602
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... ORPHA:887
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Low-set ears, Abnormal cardiac septum morphology, Webbed neck, Congenital diaphr... OMIM:614294
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Abnormality of the dentition, Absent lacrimal punctum, Microdo... ORPHA:2363
Lowry-Maclean Syndrome
Cleft palate, Atrioventricular canal defect, Pyloric stenosis, Single transverse palmar crease, D... ORPHA:2409
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Streak ovary, Hypergonadotropic hypogonadism, Punctal stenosis... ORPHA:572333
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent ear helix, Sparse hair, Flexion contracture, Inguinal hernia, Thin vermilion border, Ex... OMIM:614438
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Umbilical hernia, M... OMIM:618454
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Midline central nervous system lipomas, Median cleft lip, Nasal polyposis OMIM:155145
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Atrial septal defect, Atri... OMIM:600123
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Lacrimal gland aplasia, Xerostomia, Carious teeth OMIM:180920
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... ORPHA:3320
Orofaciodigital Syndrome I
High palate, Cleft palate, Ovarian cyst, Lobulated tongue, Carious teeth, Downslanted palpebral f... OMIM:311200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Polydactyly, Abnormal lung morph... ORPHA:294975
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Abnormality of hair texture, Alopecia, Excessive wrinkled skin, Abnor... ORPHA:286
Fanconi Anemia, Complementation Group D2
Absent thumb, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe kidney, Comple... OMIM:227646
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... OMIM:235510
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Downslanted palpebral fissures, Rocker bottom foot, Larg... OMIM:301056
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm... ORPHA:79405
19Q13.11 Microdeletion Syndrome
Wide mouth, Sparse hair, Sparse or absent eyelashes, Congenital hip dislocation, Ventricular sept... ORPHA:217346
Charge Syndrome
Webbed neck, Labial hypoplasia, Aplasia of the semicircular canal, External genital hypoplasia, C... OMIM:214800
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Hypodontia OMIM:616029
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Fanconi Anemia, Complementation Group B
Duodenal atresia, Absent thumb, Micropenis, Overfolded helix, Tracheoesophageal fistula, Hypergon... OMIM:300514
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Short palpebral fissure, Long philtrum... OMIM:616078
2Q37 Microdeletion Syndrome
Short metacarpal, Sparse eyebrow, Pyloric stenosis, Umbilical hernia, Clinodactyly of the 5th fin... ORPHA:1001
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Abnormal palate morphology, Hypospadias, Convex nasal ridge, Synophrys ORPHA:2261
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Depressed nasal bridge, Downslanted pal... ORPHA:1507
Trisomy 4P
Thick eyebrow, Hypospadias, Abnormality of the dentition, Depressed nasal bridge, Carious teeth, ... ORPHA:1738
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Downslanted palpebral fissures, Umbilical h... ORPHA:2745
Wiedemann-Steiner Syndrome
High palate, Tapered finger, Rhizomelia, Long eyelashes, Sacral dimple, Clinodactyly of the 5th f... ORPHA:319182
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis, Ectopia lentis, Increased axial length of the globe OMIM:110150
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Decreased response to growth hormone stimulation test, Cryp... OMIM:610829
Craniofrontonasal Dysplasia
High palate, Abnormality of hair texture, Abnormality of the dentition, Down-sloping shoulders, D... ORPHA:1520
Teebi Hypertelorism Syndrome 2
High palate, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Hypospadias, Broad nasal t... OMIM:619736
Postorgasmic Illness Syndrome
Abnormality of the nose, Xerostomia, Hyperhidrosis ORPHA:279947
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Abnormal eyebrow morphology, Hypoplasia of penis, Hypodontia, Depressed nasal ri... ORPHA:1816
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... ORPHA:2059
Duane Retraction Syndrome
Cleft palate, Hypoplasia of the radius, Anorectal anomaly, Skeletal muscle atrophy, Talipes equin... ORPHA:233
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Abnormality of the ureter, Omphalocele, Anorectal anomaly, Anal atresi... ORPHA:1834
Abnormality of the ureter, Congenital hip dislocation, Pancreatic hypoplasia, Abnormal pulmonary ... ORPHA:1666
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Abnormality of the ear, Sparse hair, Abnormality of the dent... ORPHA:3455
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Abnormality of femur morphology, Narrow palate, Tooth agenesis, Cryptorchidism, Con... ORPHA:2063
N Syndrome
Hypospadias, Cryptorchidism, Abnormal eyelid morphology ORPHA:2608
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Clinodactyly of the 5th finger,... OMIM:301022
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Cleft palate, Sparse eyebrow, Microdontia, Carious teeth, Hypoplasia of the maxilla,... OMIM:129900
Trisomy 1Q
Cleft palate, Ventricular septal defect, Ambiguous genitalia, Downslanted palpebral fissures, Omp... ORPHA:261344
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Lipodystrophy, Skeletal muscle atrophy, Flexion contracture, Gingivitis, Thin ski... ORPHA:75496
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Alopecia, Abnormality of t... ORPHA:2315
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Low anterior hairline, Atrial septal def... OMIM:612946
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Respiratory distress, Stroke, Slender long bones with n... ORPHA:536467
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Hyperkeratosis, Microglossia, Thick... ORPHA:530
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Hyperconvex nail, Absent glenoid fossa, Microdon... OMIM:224690
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Omphalocele, Short long bone, Abnormal heart morphology, Flexion contractur... OMIM:263210
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Depressed nasal bridge, Microdonti... OMIM:234250
Floating-Harbor Syndrome
Wide mouth, Bulbous nose, Short philtrum, Microdontia, Carious teeth, Varicocele, Long eyelashes,... OMIM:136140
Trisomy 8Q
Myelomeningocele, High palate, Hypoplasia of penis, Cleft palate, Upslanted palpebral fissure, Ev... ORPHA:1752
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
48,Xxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Carious teeth, Radioulnar synost... ORPHA:96263
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Long philtrum, Shawl scrotum, Anteverted nares, T... OMIM:227320
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, D... ORPHA:251071
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... OMIM:314390
49,Xxxxy Syndrome
Cleft palate, Down-sloping shoulders, Delayed eruption of teeth, Carious teeth, Radioulnar synost... ORPHA:96264
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Degcags Syndrome
High palate, Wide mouth, Hypertrichosis, Hiatus hernia, Hepatomegaly, Abnormal renal medulla morp... OMIM:619488
Robinow Syndrome
Dental crowding, External genital hypoplasia, Triangular mouth, Broad nasal tip, Depressed nasal ... ORPHA:97360
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... ORPHA:79493
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Facial edema, Prostatitis, Xerostomia, Abnormal saliv... ORPHA:449432
Xp22.13P22.2 Duplication Syndrome
High palate, 2-3 toe syndactyly, Sparse hair, Congenital diaphragmatic hernia, Small hand, Recurr... ORPHA:284180
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Rapp-Hodgkin Syndrome
Sparse hair, Cleft palate, Absent lacrimal punctum, Microdontia, Hypoplasia of the maxilla, Conic... OMIM:129400
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Weakness of facial musc... OMIM:265000
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Mosaic Trisomy 1
Wide mouth, Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, ... ORPHA:1692
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Microdontia, Abnormality of fibula morphology, Downslanted palpebral fissures, Sand... ORPHA:1812
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Advanced eruption of teeth, Lipodystrophy, Polycystic ovaries, Loss o... ORPHA:2348
Zaki Syndrome
High palate, Wide mouth, Sparse eyebrow, Short philtrum, Hypoplasia of the phalanges of the toes,... OMIM:619648
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Cataract, Bilateral microphthalmos OMIM:608763
Intestinal Botulism
Dysphagia, Xerostomia, Diarrhea ORPHA:178481
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Abnormal pinna morphology, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing... OMIM:276820
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Ectropion, Abnormal preputium morphology, Open bite, Abnormal renal tubule morpholo... ORPHA:2907
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Ambiguous genitalia, Furrowed tongue... ORPHA:564
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Sensorineural hearing impairment, Talipes equinovarus, Hepatomegaly, Flexion contracture, Steator... OMIM:616263
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
1Q21.1 Microdeletion Syndrome
High palate, Bulbous nose, Long philtrum, Epicanthus, Ankyloglossia, Hydronephrosis, Cryptorchidi... ORPHA:250989
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Blue nevus, Hepatomegaly,... OMIM:619991
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... ORPHA:699
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephro... OMIM:266920
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft palate, Sparse eyebrow, Short philtrum, Ventricular septal defect, Downslanted... OMIM:612530
Dyskeratosis Congenita
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Abnor... ORPHA:1775
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Delayed eruption of teeth, Tapered finger, Downslanted palpebral fissures, Cigarette... OMIM:612350
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Abnormality o... ORPHA:64744
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Sparse scalp hair, Chronic kidney disease, Reduced subcutaneous adipose tissue,... OMIM:137940
Meier-Gorlin Syndrome 8
Low-set ears, Microtia OMIM:617564
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Pulmonary hypoplasia, Open mouth, ... OMIM:614080
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Stroke, Microdontia, Abnormal femoral head morphology, Abnormal proportion of naive... ORPHA:1830
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation, Hyperhidrosis OMIM:133020
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Xerostomia, Hypop... OMIM:614941
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviat... ORPHA:818
Glycogen Storage Disease Ib
Nephrolithiasis, Neutropenia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, S... OMIM:232220
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Limited elbow extension and supination, Pyloric st... ORPHA:93932
Rhyns Syndrome
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Hypopituitarism, Abnormal long ... ORPHA:140976
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micropenis, Hypospadias, Bifid uvula, Downslanted palpebral fissures, Broad ... ORPHA:2872
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Bulbous nose, Cleft palate, Eclabion, Short philtrum, Broad nasal tip, Microdontia, D... OMIM:619950
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Clitoral hypoplasia, Ventricular septal defect, Long eyelashes, A... OMIM:616894
Lacrimoauriculodentodigital Syndrome
Nephrosclerosis, Aplasia of the parotid gland, Hypodontia, Renal agenesis, Absence of Stensen duc... OMIM:149730
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Coffin-Siris Syndrome 1
High palate, Wide mouth, Abnormal pinna morphology, Hypertrichosis, Short sternum, Cleft palate, ... OMIM:135900
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Slanting of th... ORPHA:476126
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Wide mouth, Prominent fingertip pads, Single transverse palmar crease, Thick eyebrow, Long palpeb... ORPHA:466950
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias, Coronal hypospadias, Epicanthus, Abnormal localization of kidney, Abno... ORPHA:921
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Acr... ORPHA:280365
Anencephaly 2
Median cleft palate, Short palpebral fissure, Anencephaly, Bifid nose, Median cleft lip, Cleft of... OMIM:619452
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Low-set, ... OMIM:615502
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Depressed nasal bridge, Recurrent upper respiratory tract ... ORPHA:99329
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Prominent nose, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cryptorchidism, Hypospadias... OMIM:618316
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide mouth, Labial hypoplasia, Sparse eyebrow, Short philtrum, Microdontia, Tapered finger, Long ... OMIM:619293
Cerebrocostomandibular Syndrome
Myelomeningocele, Cleft palate, Glossoptosis, Short hard palate, Multicystic kidney dysplasia, Hy... ORPHA:1393
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Eec Syndrome
Cleft palate, Sparse eyebrow, Coarse hair, Microdontia, Carious teeth, Abnormality of the inner e... ORPHA:1896
Abnormal antihelix morphology, Ventricular septal defect, Median cleft lip and palate, Solitary m... ORPHA:2162
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal m... OMIM:601163
Floating-Harbor Syndrome
Wide mouth, Broad nasal tip, Short philtrum, Long nose, Microdontia, Carious teeth, Varicocele, C... ORPHA:2044
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morphology, Precocious puberty,... ORPHA:96092
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Abnormal palate morphology, Cryptorchidism ORPHA:1381
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Gingival overgrowth, Cleft palate, Ptosis ORPHA:2013
Mulibrey Nanism
Dental malocclusion, Hypodontia, Depressed nasal bridge, Hydrops fetalis, Enamel hypoplasia, Hypo... OMIM:253250
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Posterior helix pit, Hypertrichosis, Hepatomegaly, Hepatoblastoma, Cleft palate, Shor... OMIM:312870
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of the humerus, Pyloric stenosis, Ventricular septal ... ORPHA:3138
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ... ORPHA:456328
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Bifid uvula, Cleft l... OMIM:619110
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the dentition, Abnormality of the ureter, Micromeli... ORPHA:289
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Filippi Syndrome
Hypertrichosis, Hypodontia, Sparse hair, Thin vermilion border, Short philtrum, Cutaneous syndact... OMIM:272440
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Panhypopituitari... OMIM:616784
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Cervical lymphadenop... OMIM:602782
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Proximal symphalangism of hands, Abnormality of the dentition, Anteriorly placed anu... OMIM:151050
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Hyperhidrosis OMIM:613576
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Blepharitis, Lacrimal duct atresia, Ankyloblepharon, Supernumerary nipple, Spars... OMIM:106260
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Slender finger, Sparse hair, Short fourth metatarsal, Sparse eyebrow, Short philtrum,... OMIM:619841
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... ORPHA:2322
Cerebrocostomandibular Syndrome
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Epican... OMIM:117650
Dubowitz Syndrome
High palate, Wide mouth, Abnormal antihelix morphology, Abnormality of the dentition, Delayed eru... ORPHA:235
Omodysplasia 2
Micropenis, Hypospadias, Depressed nasal bridge, Long philtrum, Bifid nasal tip, Cryptorchidism OMIM:164745
Iatrogenic Botulism
Dysphagia, Xerostomia, Constipation ORPHA:254509
Proximal Xq28 Duplication Syndrome
Everted lower lip vermilion, Hypospadias, Epicanthus, Tented upper lip vermilion, Cryptorchidism,... ORPHA:1762
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Kaufman Oculocerebrofacial Syndrome
High palate, Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Congenital hip dislocation, ... OMIM:244450
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Low-set ears, Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal ... OMIM:618929
Temple Syndrome
High palate, Cleft palate, Depressed nasal bridge, Short philtrum, Bifid uvula, Wide nose, Decrea... OMIM:616222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Upslanted palpebral fissure, Intestinal malrotation, Depressed nasal bridge, Abnorm... ORPHA:404440
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Microtia, Upsla... ORPHA:1352
Renpenning Syndrome
Cleft palate, Alopecia, Short philtrum, Macrodontia, Mandibular prognathia, Skeletal muscle atrop... ORPHA:3242
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Ehlers-Danlos Syndrome, Periodontal Type, 1
Premature loss of teeth, Periodontitis, Inguinal hernia, Arachnodactyly, Palmoplantar cutis laxa,... OMIM:130080
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... OMIM:220210
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
Pallister-Hall Syndrome
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Ventricular septal de... OMIM:146510
Stuve-Wiedemann Syndrome 1
Apnea, Pursed lips, Sparse hair, Femoral bowing, Carious teeth, Ulnar deviation of finger, Single... OMIM:601559
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Genitopalatocardiac Syndrome
Low-set ears, Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Congenital diaphragma... ORPHA:2075
Chromosome 16Q22 Deletion Syndrome
High palate, Short palpebral fissure, Upslanted palpebral fissure, Hypospadias, Depressed nasal b... OMIM:614541
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anteverted nares, Short hard palate, Midline defect of the nose, Ptosis ORPHA:1969
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, White eyebrow, White eyelashes, Anosmia, Hypogonadism, Cryptorchidism,... OMIM:613266
Phenobarbital Embryopathy
Epicanthus, Abnormal nasal base, Unilateral cleft lip, Hypospadias ORPHA:1919
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... ORPHA:1505
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Low-set ears, Clinodactyly of the 5th fi... OMIM:616145
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hemifacial Atrophy, Progressive
Horner syndrome, Microtia OMIM:141300
Rubinstein-Taybi Syndrome 1
High palate, Respiratory distress, Cleft palate, Prominent fingertip pads, Premature thelarche, F... OMIM:180849
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia, Supernumerary nipple OMIM:275450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia... ORPHA:2311
Intellectual Developmental Disorder, Autosomal Dominant 23
Bulbous nose, Upslanted palpebral fissure, Hypospadias, Depressed nasal bridge, Long philtrum, Wi... OMIM:615761
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:1508
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Peripheral pulmonary artery stenosis, Talipes equinovarus, Unilateral renal... ORPHA:90348
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Hiatus hernia, Abnormal carotid artery morpholo... ORPHA:3342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia, Ptosis ORPHA:1473
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Hypospadias, Abnormality of the urinary system, Cur... OMIM:249630
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Respiratory distress, External genital hypoplasia, Cleft palate, Clinoda... ORPHA:177907
Gracile Bone Dysplasia
Ankyloglossia, Micropenis OMIM:602361
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micro... OMIM:184260
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Fanconi Anemia, Complementation Group L
Cleft palate, Absent thumb, Hypoplastic sacrum, Tracheoesophageal fistula, Anotia, Bone marrow hy... OMIM:614083
Atelosteogenesis Type Iii
High palate, Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Micrognathia, Distal tap... ORPHA:56305
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microtia, Low-set ears, Aganglionic megacolon, Abnormal pinna morphology OMIM:613603
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Facial hirsutism, Sparse eyebrow, Hypoplastic sacrum, Microdontia, Carious teeth, H... OMIM:604292
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Short Stature-Obesity Syndrome
Microtia OMIM:269870
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, External genital hypoplasia, Absent thumb, Hypoplasia of the radius, S... OMIM:613390
Fetal Trimethadione Syndrome
High palate, Hypospadias, Depressed nasal bridge, Epicanthus, Ambiguous genitalia, Short nose, Sy... ORPHA:1913
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Abnormality of the dentition, Xerostomia, Hypohidrosis, Breast aplasia... ORPHA:238468
Trisomy 18
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... ORPHA:3380
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... ORPHA:261494
Fanconi Anemia, Complementation Group C
Absent thumb, Hypergonadotropic hypogonadism, Ventricular septal defect, Horseshoe kidney, Comple... OMIM:227645
Deeah Syndrome
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Short philtrum, Decreased circulati... OMIM:619004
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Mi... OMIM:251230
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology, Abnormality of the dentition ORPHA:1548
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... OMIM:137920
Microtia ORPHA:221054
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Overfolded helix, Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of the u... OMIM:609945
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Gastroesophageal reflux, Hypospadias, Tetralogy of Fallot, Arthrogryposis mu... ORPHA:250994
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Tongue fasciculations, Cryptorchidism, Ptosis OMIM:301830
Congenital Hypothyroidism
Tracheoesophageal fistula, Abnormal epiphysis morphology, Umbilical hernia, Prolonged neonatal ja... ORPHA:442
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse eyebrow, Alopecia, Delayed eruption of teeth, Long pe... OMIM:264090
Sc phocomelia syndrome
Cleft upper lip, Aplasia of the ulna, Hip contracture, Aortic valve stenosis, Sparse hair, Fair h... OMIM:269000
7Q11.23 Microduplication Syndrome
High palate, Overfolded helix, Short philtrum, Ventricular septal defect, Single transverse palma... ORPHA:96121
Yao Syndrome
Diarrhea, Xerostomia, Oral ulcer OMIM:617321
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Short femur, Hy... OMIM:607143
Serkal Syndrome
Sex reversal, Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormal penis morphology, Malr... ORPHA:139466
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Micrognathia, Ureteral ste... ORPHA:2257
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Al Amyloidosis
Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compens... ORPHA:85443
Colonic Atresia
Colonic atresia OMIM:303650
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Open mouth, High, narrow palate, Hypoplasia of penis, Retrognathi... ORPHA:2849
Simpson-Golabi-Behmel Syndrome
Wide mouth, Abnormal helix morphology, Hepatoblastoma, Cleft palate, Hepatomegaly, Aplasia/Hypopl... ORPHA:373
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Thromboc... OMIM:557000
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Tracheoesophageal fistul... ORPHA:958
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Conductive hearing impairment, Narrow mouth, Dislocated radial head, Talipes equinov... OMIM:602471
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Lack of skin elasticity... ORPHA:79474
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Hypogonadotropic hypogonadism, Short... ORPHA:1387
Ehlers-Danlos Syndrome, Vascular Type
Molluscoid pseudotumors, Finger joint hypermobility, Hemothorax, Foot acroosteolysis, Metacarpoph... OMIM:130050
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Cornelia De Lange Syndrome
High palate, Cleft palate, Short 1st metacarpal, Micromelia, Delayed eruption of teeth, Radioulna... ORPHA:199
Prune Belly Syndrome
Oligohydramnios, Anal atresia, Cryptorchidism, Xerostomia OMIM:100100
Dysphagia, Xerostomia, Constipation, Diarrhea ORPHA:1267
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Branchial fistula, Recurrent urinary tract infec... ORPHA:261330
Prolidase Deficiency
Hepatomegaly, Carious teeth, Genu valgum, Skin ulcer, White forelock, Splenomegaly, Micrognathia,... ORPHA:742
Meckel Syndrome, Type 10
Cleft palate, Micropenis, Hypospadias, Anencephaly, Bifid uvula, Epicanthus, Renal cyst, Narrow p... OMIM:614175
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Sensorineural hearing impairment, Drumstick terminal phalanges, Hepatosplenomegaly, Cholestasis, ... ORPHA:541423
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Bifid scrotum, Aplasia/Hypoplasia of the eyebrow, Hypospadias, Everted... ORPHA:1784
Genitopalatocardiac Syndrome
Cleft upper lip, Gonadal dysgenesis, male, Cleft palate, Hypospadias, Renal cyst OMIM:231060
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Pseudotrisomy 13 Syndrome
Tricuspid atresia, 11 pairs of ribs, Ventricular septal defect, Median cleft lip and palate, Omph... OMIM:264480
Focal Dermal Hypoplasia
Labial hypoplasia, Hiatus hernia, Sparse hair, Cleft palate, Congenital hip dislocation, Delayed ... OMIM:305600
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Downslanted palpebral fissures,... ORPHA:280
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Helix Syndrome
Polydipsia, Xerostomia, Hypohidrosis, Anhidrosis, Hyperparathyroidism OMIM:617671
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... ORPHA:7
Fryns Syndrome
Wide mouth, Abnormal helix morphology, Cleft palate, Prominent fingertip pads, Facial hirsutism, ... OMIM:229850
Ramos-Arroyo Syndrome
Narrow mouth, Depressed nasal bridge, Xerostomia, Long philtrum, Carious teeth, Smooth tongue, Ch... ORPHA:1051
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Pancreatic fibrosis, Femoral bowin... OMIM:615503
Recombinant 8 Syndrome
Cleft palate, Abnormality of the dentition, Ventricular septal defect, Hypoplastic male external ... ORPHA:96167
8Q22.1 Microdeletion Syndrome
Sparse eyebrow, Sparse eyelashes, Depressed nasal ridge, Abnormality of the dentition, Abnormalit... ORPHA:178303
Ane Syndrome
Premature loss of teeth, Ulnar deviation of the hand, Multiple joint contractures, Decreased seru... ORPHA:157954
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... OMIM:216550
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Hypospadias, Sparse medial eyebrow, Bifid uvula, Downs... OMIM:619314