Gene Summary

Name:
fibroblast growth factor 10
Synonyms:
Gsfaey17,  FGF-10,  AEY17

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
decreased leukocyte cell number Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.23×10-06
corneal opacity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.30×10-11
abnormal cornea morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 7.53×10-12
decreased thigmotaxis Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.57×10-06
decreased grip strength Fgf10tm1b(EUCOMM)Wtsi HET Early adult 6.51×10-05
narrow eye opening Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.70×10-23
increased circulating HDL cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.00×10-05
decreased locomotor activity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.48×10-08
decreased lean body mass Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 5.61×10-05
preweaning lethality, complete penetrance Fgf10tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal behavior Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.57×10-06
impaired pupillary reflex Fgf10tm1b(EUCOMM)Wtsi HET Early adult 5.49×10-11
increased circulating cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 1.01×10-05
increased total body fat amount Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 7.96×10-06

Download data as:  TSV  XLS

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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)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 33.33% (1 of 3)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Not available
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 33.33% (1 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Not available
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Not available
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 33.33% (1 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Not available
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

12 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Echo

M-Mode Images

31 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

MicroCT E14.5-E15.5

Embryo reconstruction

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the lacrimal punctum, Anosmia, Microdontia, Bifid uvula, Lacrimal duct aplasia, Abn... ORPHA:2363
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia OMIM:180920
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Widely spaced teeth, Xerostomia OMIM:620193

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Microphthalmia/Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broa... ORPHA:2863
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Enamel hypoplasia, Long philtr... OMIM:166750
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, Bifid nasal tip, High palate, Ankyloglossia, Bilateral cleft... OMIM:618874
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology, Short toe, R... OMIM:259270
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Burning Mouth Syndrome
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Burning mouth, Par... ORPHA:353253
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Myelomeningocele, Abnormal heart mo... ORPHA:94065
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Cat Eye Syndrome
Biliary atresia, Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, Umbilical hernia... OMIM:115470
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Cryptorchidism, Ankyloblepharon ORPHA:1074
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Microtia, first degree OMIM:620444
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Sparse axillary hair, Absent radiu... OMIM:181450
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Anteverted nares, Ectopic anus, High palate, Ptosis, Cleft pala... ORPHA:1703
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Orofaciodigital Syndrome V
Aganglionic megacolon, Horseshoe kidney, High palate, Ankyloglossia, Unilateral cryptorchidism, D... OMIM:174300
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Femoral bowing, Death in infanc... OMIM:274000
Tetraamelia Syndrome 2
Glossoptosis, Absent nipple, Ankyloglossia, Cleft palate, Micropenis, Bilateral cleft lip OMIM:618021
Bartsocas-Papas Syndrome 1
Ectropion, Skin tags, Ectopic kidney, Small nail, Hypoplastic iliac wing, Microtia, Oligodactyly,... OMIM:263650
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Renal hypoplasia/aplas... ORPHA:2092
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Hypospadias, Concave nail, Small nail, Narr... OMIM:300978
Robinow Syndrome, Autosomal Dominant 1
Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, Anteverted nar... OMIM:180700
17Q11.2 Microduplication Syndrome
Thin vermilion border, Deviated nasal septum, Abnormal dental enamel morphology, Thick nasal alae... ORPHA:139474
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Hypoplastic lacrimal duct, Absent lacrimal punctum, Downturned corners of mo... OMIM:273390
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypoplastic helices, Death in childhood, Hypospadias, Clubbing, Split hand, Ventricular septal de... OMIM:600460
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Protruding ear, Renal hypoplasia/aplasia, Abnormal hip bone morp... ORPHA:1166
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Mesenter... OMIM:618316
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia, Ankyloblepharon OMIM:611038
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Hypoplasia of the small intest... OMIM:200995
De Barsy Syndrome
Cutis laxa, Sparse hair, Umbilical hernia, Adducted thumb, Small, conical teeth, Excessive wrinkl... ORPHA:2962
Intellectual Disability, Wolff Type
Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Inguinal... ORPHA:3080
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Intes... ORPHA:2255
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Palmar hyperhidrosis, Camptodactyly of finger, Hypodontia, Oral... OMIM:226650
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Intestinal malrotation, Pulmonic stenosis, Aort... OMIM:609029
Pai Syndrome
Midline defect of the nose, Telecanthus, Encephalocele, Nasal polyposis, Abnormal oral frenulum m... ORPHA:1993
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Esophageal a... OMIM:314390
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu... ORPHA:401935
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis, Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Proximal placement of thumb, Dislocated radial h... OMIM:122470
Fontaine Progeroid Syndrome
Retrognathia, Aplastic/hypoplastic lacrimal glands, Small nail, Redundant skin, Everted lower lip... OMIM:612289
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias ORPHA:261204
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Short ribs, Short long bone, Intestinal malrotation, Me... OMIM:263520
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... OMIM:208540
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Enamel hypoplasia, Carious teeth, Broad nasal tip, Thick vermilion border ORPHA:363523
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Sandal gap, Repeated pneumothoraces, Dental crowding, Intestinal... OMIM:617602
Czeizel-Losonci Syndrome
Upslanted palpebral fissure, Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger ... ORPHA:2437
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure ORPHA:2528
Kilquist Syndrome
Gastroesophageal reflux, Midgut malrotation, Mandibular prognathia, Choanal atresia, Intestinal m... OMIM:619080
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Nasal polyposis, Midline central nervous system lipomas, Bifid uvula, Median cleft u... OMIM:155145
Shaheen Syndrome
Enamel hypoplasia, Carious teeth, Hypohidrosis OMIM:615328
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Bilateral cleft lip, Agenesis ... OMIM:610829
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join... OMIM:154400
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Ventricular septal defect... OMIM:615524
Restrictive Dermopathy
Scaling skin, Ureteral duplication, Sparse or absent eyelashes, Temporomandibular joint ankylosis... ORPHA:1662
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal vascular morphology, Abnormal salivary gland morphology, A... ORPHA:314652
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Small thenar eminence, Short... OMIM:607323
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Dental crowding, Severe hearing impairment,... ORPHA:96170
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Low posterior hairline, Pulmonic stenosis, Bifid uvula, Sparse hair, Long ... OMIM:617506
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Highly arched eyebrow, Congenital finger fle... ORPHA:363528
Phocomelia, Schinzel Type
Nail dysplasia, Hypoplasia of penis, Aplasia of the uterus, Aplasia/Hypoplasia involving the pelv... ORPHA:2879
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Small nail, Microdontia, Bifid uvula, Syndactyl... OMIM:129400
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Convex nasal ridge, Abnormal palate morphology, Hypospadias, Synophrys ORPHA:2261
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Impulsivity, Enamel hypoplasia, Irregularly spaced teeth,... ORPHA:99329
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Retrognathia, Redundant neck skin, Small nail, Pulmonic stenosis, Leukopenia,... OMIM:301056
Marden-Walker Syndrome
Arachnodactyly, Long philtrum, Hypospadias, Inguinal hernia, Camptodactyly, Congenital contractur... OMIM:248700
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Inguinal hernia, Webbed nec... OMIM:614294
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the lacrimal punctum, Anosmia, Microdontia, Bifid uvula, Lacrimal duct aplasia, Abn... ORPHA:2363
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the h... ORPHA:3320
48,Xxyy Syndrome
Chronic otitis media, Hypoplasia of penis, Taurodontia, Inguinal hernia, Azoospermia, Broad jaw, ... ORPHA:10
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Delayed eruption of teeth, Hypodontia, Hypoplasia of penis, Nephrolithiasis, Depress... ORPHA:1816
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Short palpebral fissure, Wide nose, Dental crowding, High palate, Narrow mouth, An... OMIM:616078
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Abnormality of the gallbladder, Ectopic... ORPHA:887
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Hypospadias, Anteverted nares, Narrow mouth, Depress... ORPHA:1355
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Aplastic anemia, Esophageal atresia, Low-set ears, Tracheoesophageal fist... OMIM:300514
Barber-Say Syndrome
Ectropion, Redundant skin, Microtia, first degree, Wide mouth, Talipes equinovarus, Stenosis of t... OMIM:209885
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Bone marrow hypocellula... OMIM:227646
Teebi Hypertelorism Syndrome 2
Short nose, Upper eyelid coloboma, Hypospadias, Delayed eruption of teeth, High palate, Everted l... OMIM:619736
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia OMIM:180920
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Generalized hypertrichosis, Delayed eruption of pr... ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 73
Long nose, Highly arched eyebrow, Everted lower lip vermilion, Broad philtrum, Axillary pterygium... OMIM:620450
Pierre Robin Syndrome
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:261800
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth, Polycystic kidney dysp... OMIM:311200
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco... ORPHA:294975
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,... OMIM:235510
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Highly arched eyebrow, Elevated circulating luteinizing h... ORPHA:572333
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin vermilion border, Dermal translucency, Excessive wrinkled skin, Inguinal hernia, Prominent e... OMIM:614438
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Wiedemann-Steiner Syndrome
Dysphagia, Long philtrum, Clinodactyly, Abnormality of the hand, Decreased response to growth hor... ORPHA:319182
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Atrophic scars, Enamel hypoplasia, Carious teeth, Oral mucosal bli... ORPHA:79405
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Retrognathia, Solitary median maxillary central incisor, Sparse or absent eyelash... ORPHA:217346
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Lipoid Proteinosis
Thick lower lip vermilion, Hyperkeratosis, High palate, Nasal polyposis, Abnormality of the gingi... ORPHA:530
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Tracheoeso... OMIM:214800
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Rubinstein-Taybi Syndrome 2
Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Intestinal malrotation, Broad thum... OMIM:613684
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Wide mouth, Umbilical hernia, Long philtrum, Short philtrum, Anteverted nare... ORPHA:1507
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Highly arched eyebro... ORPHA:1001
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis, Ectopia lentis, Increased axial length of the globe OMIM:110150
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Opitz Gbbb Syndrome
Bifid scrotum, Tracheoesophageal fistula, Umbilical hernia, Long philtrum, Hypospadias, Anteverte... ORPHA:2745
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Dextrocardia
Meckel diverticulum, Abnormal renal morphology, Intestinal malrotation, Abnormal heart morphology... ORPHA:1666
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Microtia, Abnormal ... ORPHA:1834
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Sandal gap, Sensorineural hearing impairment, Low posterior hair... ORPHA:1520
Meier-Gorlin Syndrome 8
Microtia, Low-set ears OMIM:617564
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Radial deviation of finger, Abnormal pinna morphology, Wrist flexion contra... OMIM:268300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Postorgasmic Illness Syndrome
Abnormality of the nose, Hyperhidrosis, Xerostomia ORPHA:279947
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Microtia, Microdontia, Ureterocele, Split foot, Sparse axillary hair, Sparse hair... OMIM:129900
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo... ORPHA:2059
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Retrognathia, Pulmonic stenosis, Congenital malformation of the left heart, Short hu... ORPHA:3455
Trisomy 8Q
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, High palate, Everted lo... ORPHA:1752
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Duane Retraction Syndrome
Ectopic kidney, Anorectal anomaly, Sensorineural hearing impairment, Abnormal pinna morphology, E... ORPHA:233
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Retrognathia, Short long bone, Fro... OMIM:263210
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Antever... OMIM:234250
Robinow Syndrome
Broad alveolar ridges, Dental crowding, Umbilical hernia, Small scrotum, Long philtrum, External ... ORPHA:97360
Acrofacial Dysostosis, Catania Type
Hypospadias, Spina bifida occulta, Carious teeth, Downslanted palpebral fissures, Cleft palate, P... OMIM:101805
48,Xxxy Syndrome
Chronic otitis media, Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scr... ORPHA:96263
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Trisomy 4P
Abnormal palate morphology, Hypospadias, Abnormality of the dentition, Carious teeth, Thick eyebr... ORPHA:1738
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
N Syndrome
Abnormal eyelid morphology, Cryptorchidism, Hypospadias ORPHA:2608
Floating-Harbor Syndrome
Microdontia, Nephrocalcinosis, Wide mouth, Congenital posterior urethral valve, Umbilical hernia,... OMIM:136140
Mosaic Trisomy 9
Rocker bottom foot, Abnormal liver lobulation, Hypoplasia of penis, Small nail, Intestinal malrot... ORPHA:99776
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, High palate, Ankyloglossia, Hydronephrosis, Epicanthus, Long philtrum, Cry... ORPHA:250989
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Sandal gap, Hypoplasia of penis, Aplastic/hypoplastic toenail, Microdontia, Fine ha... ORPHA:1812
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Repeated pneumothoraces, Microdontia, Arachnodactyly, Slender long bone... ORPHA:536467
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Abnormality of primary teeth, Pulmonic stenosis, Arachnodactyly, Aorti... ORPHA:75496
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal pinna morphology, Broad th... ORPHA:251071
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal a... OMIM:612946
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Absent sternal ossification, Microtia, Short ribs, Microdontia, Death in in... OMIM:224690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ulnar deviation of the 3rd finger, Delayed puberty, Steatorrhea, Hepatomegaly, Proximal placement... OMIM:616263
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival hyperkeratosis, Redundant skin, Everted lower lip vermilion, Blepharochalasis, Umbilical... OMIM:225410
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:144300
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:311895
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Br... OMIM:614437
49,Xxxxy Syndrome
Chronic otitis media, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypogonadism, Abnormal epiph... ORPHA:96264
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Degcags Syndrome
Premature graying of hair, Retrognathia, Sensorineural hearing impairment, Cholestasis, Abnormal ... OMIM:619488
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Neoplasm of the pancreas, Nail dystrophy, Anore... ORPHA:1775
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Cataract 42
Cataract, Developmental cataract OMIM:115900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... OMIM:266920
Trisomy 1Q
Congenital diaphragmatic hernia, Arachnodactyly, Aplasia/Hypoplasia of the nails, Small scrotum, ... ORPHA:261344
Zaki Syndrome
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Hypoplasia of the phalanges of t... OMIM:619648
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,... ORPHA:2063
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Seckel Syndrome 5
Clitoral hypertrophy, Hypospadias, Oligodontia, Selective tooth agenesis, High palate, Enamel hyp... OMIM:613823
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Hypermelanotic macule, Abnormal femoral head morphology, Abnormal intestine ... ORPHA:1830
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, 2-3 toe syndactyly, Mandibular prognathi... ORPHA:284180
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Mosaic Trisomy 1
Rocker bottom foot, Congenital diaphragmatic hernia, Small nail, Broad 2nd toe, Abnormal pinna mo... ORPHA:1692
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Splenomegaly, Cellulitis, Xanthomatosis, Hepatic steatosis, Myopathy, Advanced erupt... ORPHA:2348
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th... OMIM:142900
Meckel Syndrome
Ureteral duplication, Anencephaly, Pancreatic fibrosis, Low-set, posteriorly rotated ears, Enceph... ORPHA:564
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy, Progressive cerebellar ataxia, Ataxia ORPHA:3177
Intestinal Botulism
Diarrhea, Dysphagia, Xerostomia ORPHA:178481
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Hereditary Acrokeratotic Poikiloderma
Abnormal renal tubule morphology, Ectropion, Abnormal preputium morphology, Palmoplantar hyperker... ORPHA:2907
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Nausea, Hyperhidrosis, Parosmia, Par... ORPHA:33543
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... OMIM:615542
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Abnormal renal glomerulus morphology, Alope... OMIM:137940
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormality of the ocular ad... ORPHA:64744
Erythermalgia, Primary
Diarrhea, Hyperhidrosis, Xerostomia, Constipation OMIM:133020
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Short metacarpal, Cigarette-paper scars, Broad femoral neck, Bifid uvula,... OMIM:612350
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Widely spaced teeth, Xerostomia OMIM:620193
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Hypoplastic nipples, Absent nipple, Everted lower lip vermilion, Anhidrosis, Rhini... OMIM:614941
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Bilateral ptosis, Dislocated radial head, Ar... OMIM:265000
Fg Syndrome Type 1
Small pituitary gland, Clinodactyly of the 2nd finger, Dental crowding, Sensorineural hearing imp... ORPHA:93932
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th finger, Slanting of the pa... ORPHA:476126
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias OMIM:302905
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:818
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... OMIM:232220
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Nail dysplasia, Small nail, Highly arched eyebrow, Upslanted pal... OMIM:618454
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... OMIM:614900
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Hypospadias, Downslanted palpebral fissures, Bifid uvula, Broad philtrum, Um... ORPHA:2872
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Microdontia, Eclabion, Wide mouth, Short philtrum, Anteverted nares, Sparse lateral eyebrow, Hori... OMIM:619950
Cerebrocostomandibular Syndrome
Meningocele, Short hard palate, Hydranencephaly, Glossoptosis, Myelomeningocele, Spina bifida, Cl... ORPHA:1393
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, High palate, Bifid scrotum, Penile ... ORPHA:456328
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sandal gap, Small nail, Microtia, Upslanted palpebral fissure, S... OMIM:612530
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Bifid uvula, Lacrimal duct aplasia, Aplasia of the thymus, Broad philtrum, Ch... OMIM:620186
Cerebrocostomandibular Syndrome
Anal stenosis, Ectopic kidney, Cleft soft palate, Short hard palate, Glossoptosis, High palate, R... OMIM:117650
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Hirsutism, High palate, Sparse scalp hair, Long ey... OMIM:614608
Rhyns Syndrome
Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Hearing impai... ORPHA:140976
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Narro... OMIM:615502
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermil... OMIM:615873
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Cutis laxa, Syndactyly, Sparse hair, Hypospadias, Inguinal hern... OMIM:151050
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right... OMIM:616894
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Johanson-Blizzard Syndrome
Hypoplasia of penis, Abnormal vagina morphology, Sensorineural hearing impairment, Microdontia, D... ORPHA:2315
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis, Gingival overgrowth, Cleft palate, Hypospadias ORPHA:2013
Eec Syndrome
Nail dystrophy, Renal hypoplasia/aplasia, Proximal placement of thumb, Sensorineural hearing impa... ORPHA:1896
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Gastroesophageal reflux, Dilatation of renal calices, Pelvic kidney, Prominent fingertip pads, Si... ORPHA:466950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Ureteral duplication, Long philtrum, Short distal phalanx of fin... OMIM:614080
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Hypospadias, Cleft palate, Epicanthus, Abnormal localization of kidne... ORPHA:921
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Prominent nose OMIM:203550
Chromosome 16Q22 Deletion Syndrome
Short palpebral fissure, Hypospadias, Highly arched eyebrow, High palate, Epicanthus, Wide nasal ... OMIM:614541
Blepharophimosis-Impaired Intellectual Development Syndrome
Aplastic/hypoplastic toenail, Highly arched eyebrow, Microdontia, Wide mouth, Short distal phalan... OMIM:619293
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Small nail, Double outlet right... ORPHA:1596
Osteogenesis Imperfecta, Type Vii
Hearing abnormality, Rhizomelia, Crumpled long bones, Femoral retroversion, Hypoplastic pulmonary... OMIM:610682
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenome... OMIM:619991
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Abnormal finger mor... ORPHA:3138
Ramos-Arroyo Syndrome
Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Narrow mouth, Cari... ORPHA:1051
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Duodenal ulcer, Clitoral hypertrophy, Retrognathia, Ectopic kidn... OMIM:135900
Mulibrey Nanism
Hydrops fetalis, Wide nose, Absent frontal sinuses, Dental crowding, Ascites, Hypoplastic frontal... OMIM:253250
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Floating-Harbor Syndrome
Long nose, Microdontia, Nephrocalcinosis, Wide mouth, Congenital posterior urethral valve, Epidid... ORPHA:2044
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Sandal gap, Morgagni diaphragmatic hernia, Redundant skin, Death in infancy, Cutis ... OMIM:613177
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the lacrimal punctum, Microdontia, Delayed eruption of primary teeth, Nasolacrimal ... OMIM:149730
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Premature graying of hair, Precocious atherosclerosis, Splenomegaly, Proximal upper ... ORPHA:280365
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Anteverted nares, Bifid uvula, Long philtrum, Shawl scrotum, Depressed nas... OMIM:615942
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Nail dystrophy, Sandal gap, Highly arched eyebrow, Ventricular h... OMIM:300887
Fetal Trimethadione Syndrome
Short nose, Hypospadias, High palate, Synophrys, Ptosis, Epicanthus, Ambiguous genitalia, Depress... ORPHA:1913
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Hypospadias, Hypoplasia of penis, Anal atresia, Cryptorchidism ORPHA:1381
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Glossitis, Diarrhea, Hamartomatous polyposis, Vomiting, Hem... OMIM:175500
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Everted lower lip vermilion, Abnormal heart morphology, Wide mouth, Long philtrum, ... ORPHA:96092
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Am... OMIM:601163
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Hyperhidrosis, Thin upper lip vermilion OMIM:613576
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hypoplasia of penis, ... ORPHA:2162
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger... OMIM:602782
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Ellis Van Creveld Syndrome
Nail dysplasia, Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short d... ORPHA:289
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Anteverted nares, Panhypopituitarism, Ptos... OMIM:616784
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Omodysplasia 2
Dislocated radial head, Broad femoral neck, Short humerus, Long philtrum, Bilateral cleft lip, Fi... OMIM:164745
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bilateral ptosis, Highly arched eyebrow, Anteverted nares, Intestinal malrotation, Abnormal oral ... ORPHA:404440
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palmar crease, Serr... OMIM:272440
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Ptosis, Midline defect of the nose, Anteverted nares ORPHA:1969
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ventricular hypertrophy, Hypertension, Aortic tortuosity, Aortic... OMIM:208050
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Enlarged kidney, Short greater sci... OMIM:312870
Prune Belly Syndrome
Xerostomia, Cryptorchidism, Oligohydramnios, Anal atresia OMIM:100100
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Skin tags, Highly arched eyebrow, Abnormal heart... ORPHA:508488
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Anteverted nares, Abnormality of the dentition, Tooth agenesis, Abnormal dental m... ORPHA:238468
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Microtia, Aplasia of the uterus, Tracheoesophageal fistula, Bone marrow hypoc... OMIM:614083
Kabuki Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypoplasia of penis, Highly arched eye... ORPHA:2322
Pallister-Hall Syndrome
Nail dysplasia, Ectopic kidney, Microtia, Oligodactyly, Hypothalamic hamartoma, Shortening of all... OMIM:146510
Iatrogenic Botulism
Constipation, Dysphagia, Xerostomia ORPHA:254509
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Supernumerary nipple, Dextrocardia, Short philtrum, Telecanthus, H... OMIM:618929
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Colon cancer, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Multiple len... ORPHA:2869
Gracile Bone Dysplasia
Micropenis, Ankyloglossia OMIM:602361
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... OMIM:610706
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic hernia, Upper limb u... OMIM:613630
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin... OMIM:265380
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dysplasia, Nail dystrophy, Genu valgum, Dermal translucency, Meta... OMIM:612199
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Death in in... OMIM:601559
1Q21.1 Microduplication Syndrome
Hypospadias, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tetralogy of Fallot, Hi... ORPHA:250994
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Widely spaced teeth, Atrioventricular canal defect, Medial flaring ... OMIM:617364
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Talipes equinovarus, Flared metaphysis, Aortic root aneurysm, Long upper lip, Atrophic scars, Bow... OMIM:615349
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Acrofrontofacionasal Dysostosis
Hypospadias, Dimple on nasal tip, Non-midline cleft of the upper lip, High palate, Everted lower ... ORPHA:1784
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Lacrimal gland hypoplasia, Anosmia, White eyelashes, Hypogonadism, White e... OMIM:613266
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Renpenning Syndrome
High, narrow palate, Hypospadias, Short philtrum, Narrow mouth, Anal atresia, Decreased testicula... ORPHA:3242
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Ptosis, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Kleefstra Syndrome
Chronic otitis media, Hypoplasia of penis, Highly arched eyebrow, Upslanted palpebral fissure, Ev... ORPHA:261494
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Highly arched eyebrow, Sensorineural hearing impairment, Wide mouth, Epistaxis,... OMIM:619841
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furrowed tongue, Cry... ORPHA:1387
Prolidase Deficiency
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Recurrent cystitis, Pap... ORPHA:742
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Prader-Willi Syndrome Due To Translocation
Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Abnormal heart morphology, Ov... ORPHA:177907
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o... ORPHA:1352
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Phenobarbital Embryopathy
Unilateral cleft lip, Hypospadias, Epicanthus, Abnormal nasal base norphology ORPHA:1919
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Abnormal pinna morphology, Intestinal malrotation, Sparse hair, Carious tee... OMIM:244450
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Arterial Tortuosity Syndrome
Rocker bottom foot, Abnormal carotid artery morphology, Redundant skin, Hypertension, Arachnodact... ORPHA:3342
Dubowitz Syndrome
Abnormal female external genitalia morphology, Sandal gap, Broad thumb, Wide mouth, Abnormality o... ORPHA:235
Fanconi Anemia, Complementation Group C
Ectopic kidney, Bone marrow hypocellularity, Absent thumb, Absent radius, Neutropenia, Pancytopen... OMIM:227645
Coxoauricular Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:1508
Microphthalmia, Syndromic 13
Ptosis, Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... OMIM:618363
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Proximal Xq28 Duplication Syndrome
Hypospadias, Everted lower lip vermilion, Ptosis, Tented upper lip vermilion, Epicanthus, Cryptor... ORPHA:1762
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Low-set e... OMIM:220210
Fg Syndrome 5
Short nose, Hypospadias, Anteverted nares, Epicanthus, Long philtrum, Diastema, Upslanted palpebr... OMIM:300581
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Non-midline cleft o... ORPHA:2075
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of s... ORPHA:95494
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn... OMIM:137920
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Nail dystrophy, Microtia, Microdontia, Ureterocele, Split foot, Sparse axilla... OMIM:604292
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Oligodactyly, Narrow mouth, Low-set ears, Forearm undergrowth, Micromeli... OMIM:251230
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Short humerus, Hip dislocation, Hypoplasia ... OMIM:602471
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Split foot,... ORPHA:958
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... OMIM:180849
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Anteverted nares, Dental crowding, Synophrys, Ptosis, Downslanted palpebral fissures... OMIM:615761
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Autosomal Dominant Cutis Laxa
Redundant neck skin, Redundant skin, Cutis laxa, Adducted thumb, Hernia, Hip dislocation, Aortic ... ORPHA:90348
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip pads, High palate, Ventricula... OMIM:300963
Hemifacial Atrophy, Progressive
Microtia, Horner syndrome OMIM:141300
Perlman Syndrome
Bilateral single transverse palmar creases, Retrognathia, Hypoplasia of penis, Broad alveolar rid... ORPHA:2849
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Delayed puberty, Pro... ORPHA:199
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Small nail, Highly arched eyebrow, Abnormal renal morphology, Delayed ossification of carpal bone... OMIM:239300
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Highly arched eyebrow, Recurrent urinary tract infections, Narrow mouth, Cho... ORPHA:261330
Schilbach-Rott Syndrome