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Gene: Ift27 MGI:1914292

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

intraflagellar transport 27

Synonyms:

2600013G09Rik, Rabl4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ift27 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.

Human diseases associated with Ift27 (2 diseases)
Human diseases predicted to be associated with Ift27 (1469 diseases)

The table below shows human diseases associated to Ift27 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bardet-Biedl Syndrome 19		Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric...	OMIM:615996
Bardet-Biedl Syndrome		Finger syndactyly, Multicystic kidney dysplasia, Prominent nasal bridge, Postaxial hand polydactyly	ORPHA:110

The table below shows human diseases predicted to be associated to Ift27 by phenotypic similarity.

Disease	Matching phenotypes	Source
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Bulbous nose, Velopharynge...	OMIM:192430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Deeply set eye, Short philtrum, Atrial septal defect, Pul...	OMIM:618316
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, R...	ORPHA:93267
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia,...	OMIM:613544
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Tonne-Kalscheuer Syndrome	Prominent nasal bridge, Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Hypertelor...	OMIM:300978
Hadziselimovic Syndrome	Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Thi...	OMIM:612946
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Bulbous nose, Pierre-Rob...	OMIM:613604
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Pectus excavatum, Bulbous nose, Patent ductu...	OMIM:618330
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers...	OMIM:617022
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ven...	OMIM:145420
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Underdeveloped nasal alae, Micrognathia, Hypertelorism, Patent ductus arteriosus, Wide nasal brid...	ORPHA:1516
Kagami-Ogata Syndrome	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defect, Depressed nas...	OMIM:608149
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Prematurely aged appearance, Abnormal distal phalanx morphology of finger...	ORPHA:1387
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Underdeveloped nasal a...	OMIM:263210
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P...	OMIM:228520
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Pectus excavatum, Hypertelorism...	ORPHA:1388
Achondrogenesis Type 1B	Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short thorax, Abnormal rib morphology...	ORPHA:93298
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Rhizomelia...	ORPHA:1515
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Anteverted nares, Micrognathia, Hypertelorism, Wide nasal bridge, Retrognathia, ...	ORPHA:352490
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect, Wide nasal bridge, Hypotelorism, High palate, Broad a...	OMIM:314320
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m...	ORPHA:2059
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Hypertelorism, Patent ductus ...	ORPHA:3304
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Wide nasal ...	ORPHA:3369
Frontoocular Syndrome	Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum, Hypotelorism, Proptosis,...	OMIM:605321
Filippi Syndrome	Ventricular septal defect, Underdeveloped nasal alae, 2-4 toe syndactyly, Optic atrophy, Wide nas...	OMIM:272440
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Hypotelor...	ORPHA:1702
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Anteverted nares, Femoral hernia, Micromelia, Micrognathia, S...	ORPHA:93299
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Deep phil...	OMIM:615834
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Ab...	OMIM:179613
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palat...	OMIM:618529
Trisomy 1Q	Omphalocele, Microretrognathia, Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, ...	ORPHA:261344
Fetal Minoxidil Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Clinodactyly of the 5th finger, ...	ORPHA:1918
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, De...	OMIM:158170
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Pectus excavatum, Abnormal zygomatic b...	ORPHA:2511
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Ventricular septal defect, ...	OMIM:617895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Micrognathia, M...	ORPHA:3082
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, M...	ORPHA:171839
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ...	OMIM:617174
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Campto...	ORPHA:137834
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal mitr...	ORPHA:1277
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Clinodactyly, Anteriorly placed anus, Downturned corners o...	OMIM:616894
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus a...	ORPHA:95430
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Coxa vara, Pectus carinatum, Hypotelorism, Clinodactyly of the 5th finger, Syndactyly, Anteverted...	OMIM:614701
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, Optic atrophy, Hypotelorism, Congenital...	OMIM:615042
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P...	ORPHA:3378
Achondrogenesis	Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Short thorax, Aplasia/Hypoplasia of ...	ORPHA:932
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Hypertelorism, Short thorax, Abnormal rib morphology, Cone-shaped epi...	ORPHA:2484
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Mosaic Trisomy 1	Thoracic scoliosis, Congenital diaphragmatic hernia, Orofacial cleft, Renal cyst, Finger clinodac...	ORPHA:1692
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Eso...	ORPHA:2209
Distal Duplication 15Q	Omphalocele, Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectu...	ORPHA:1707
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Ta...	OMIM:613684
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Paten...	OMIM:618974
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Anodonti...	ORPHA:90652
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Hypertelorism,...	ORPHA:2872
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae,...	OMIM:277720
Coffin-Siris Syndrome 3	Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Central diaphragmatic herni...	OMIM:614608
You-Hoover-Fong Syndrome	Accessory oral frenulum, Pectus excavatum, Cleft palate, Vascular ring, Coarctation of aorta, Cli...	OMIM:616954
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas...	OMIM:601927
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Lowry-Maclean Syndrome	Inguinal hernia, Choanal atresia, Delayed eruption of primary teeth, Congenital diaphragmatic her...	ORPHA:2409
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Hypotelo...	OMIM:618454
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's...	OMIM:617616
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Hypertelorism, Tapered finger, Optic atrophy, Depressed ...	OMIM:618672
Intellectual Developmental Disorder, Autosomal Dominant 21	Hypertelorism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion borde...	OMIM:615502
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Broad nasal tip, Achilles ...	OMIM:619719
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, Right aortic ...	OMIM:231060
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Inguinal hernia, Bowing of the long bones, Congenital hip dislocatio...	OMIM:612940
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe...	OMIM:208050
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, High pala...	OMIM:609625
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Cutis marmorata, Protruding tongue, Patent ductus ar...	OMIM:612938
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Hypotelorism, Deeply ...	OMIM:612530
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Hypotelorism, Narrow mouth, Atrial ...	ORPHA:3469
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Dorsocervical fat ...	ORPHA:391408
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Missing ribs, Micrognathia, Hypert...	OMIM:220210
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Inguinal hernia, Finger syndactyly, Anteverted nares, Camp...	ORPHA:915
Fetal Valproate Spectrum Disorder	Omphalocele, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mo...	ORPHA:1906
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Inguinal hernia, Poor wound healing, Pectus excavatum, C...	OMIM:130000
Developmental And Epileptic Encephalopathy 87	Prominent nose, Hypertelorism, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced...	OMIM:618916
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arac...	OMIM:600325
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Multicystic kidney dysplasia, Abnorma...	ORPHA:2092
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Exaggerated ...	ORPHA:261120
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, De...	OMIM:618622
Perching Syndrome	Cyanosis, Depressed nasal bridge, High palate, Camptodactyly, Joint contracture	OMIM:617055
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Broad nasal tip, Pectus excavatum, Hypert...	ORPHA:284180
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ...	ORPHA:2745
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hypotelorism, Tibial bowing, ...	OMIM:601812
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Narrow mouth, Bulbou...	OMIM:614114
Trigonocephaly 1	Omphalocele, High, narrow palate, Wide nasal bridge, Hypotelorism, Long philtrum, Short nose, Mec...	OMIM:190440
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Broad nasal tip, Microgn...	ORPHA:166108
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hypertelori...	ORPHA:369891
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cerebral hemorrhage, Hypertelorism, Abnormal hand morphology, Moyamoya phenomenon, Dil...	OMIM:300845
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo...	OMIM:613630
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Wide nasal ridge, Hypertelorism, Anteriorly placed anus, Large hands, Camp...	OMIM:618786
6P22 Microdeletion Syndrome	Finger syndactyly, Patent ductus arteriosus, Hypotelorism, Deeply set eye, Hernia, Clinodactyly, ...	ORPHA:251046
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Syndactyly, Multicystic kid...	ORPHA:97360
Adams-Oliver Syndrome 4	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph...	OMIM:615297
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Deeply set e...	OMIM:265380
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Flexion contracture, Wrist flexion contracture, Long toe, Anteverted nares, Depressed nasal bridg...	ORPHA:254528
Miller-Dieker Syndrome	Omphalocele, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Sho...	ORPHA:531
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Metaphyseal widening, Narrow chest, Thick upper lip vermilio...	OMIM:239850
Ehlers-Danlos Syndrome, Classic-Like, 2	Thoracic scoliosis, Micrognathia, Shoulder dislocation, High palate, Prematurely aged appearance,...	OMIM:618000
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly, Hypotelorism, De...	ORPHA:2710
Rubinstein-Taybi Syndrome 1	Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Fl...	OMIM:180849
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Mosaic Trisomy 14	Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypertelorism, A...	ORPHA:1703
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Pulmonary cyst, Depressed nasal bridge, Anteverted nares, Micrognathia, Pectus e...	OMIM:618272
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a...	ORPHA:1110
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Atr...	OMIM:300373
Acalvaria	Omphalocele, Spina bifida, Hypertelorism, Postaxial hand polydactyly, Abnormal lung lobation, Cle...	ORPHA:945
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Hypertelorism, Macroglossia	OMIM:614450
Fg Syndrome Type 1	Dental crowding, Prominent nose, Micrognathia, Abnormal sternum morphology, Fused teeth, High pal...	ORPHA:93932
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Catel-Manzke Syndrome	Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid ...	OMIM:616145
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Clinodactyly, Hypotelorism, Downturned corners of mouth, Deeply set...	ORPHA:177907
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Per...	OMIM:617822
Intellectual Developmental Disorder, Autosomal Recessive 5	Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Hypertelorism, Achilles tendon...	OMIM:611091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Congenital dia...	OMIM:601163
Schneckenbecken Dysplasia	Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Advanced tarsal ...	OMIM:269250
Liang-Wang Syndrome	Thin upper lip vermilion, Hypertelorism, Diastema, Wide nasal bridge, Gingival overgrowth, Downtu...	OMIM:618729
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Tapered finger, Thick lower ...	OMIM:300602
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Pursed lips, Inguinal hernia, Hip contracture, Anteverted nares, Micrognathia, ...	OMIM:616266
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Arachnodactyly, Underdeveloped nasal alae, Micrognathia, Hypertelorism,...	OMIM:300986
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Broad hallux, Sandal gap, Prominent nose, Abnormality ...	ORPHA:313947
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp...	ORPHA:141152
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Grayish ...	ORPHA:2980
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micro...	ORPHA:2067
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Hypertelorism, Open bite, Dental malocclusion,...	ORPHA:3079
Double Outlet Right Ventricle	Cyanosis, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Hyperteloris...	ORPHA:3426
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Micrognathia, Pectus excavatum, Bulbous nose, Thick lowe...	OMIM:614104
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of fin...	ORPHA:2021
Snijders Blok-Campeau Syndrome	Inguinal hernia, Prominent nose, Hypertelorism, Wide nasal bridge, Perimembranous ventricular sep...	OMIM:618205
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomati...	ORPHA:2215
Trisomy 18P	Facial palsy, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Pyloric stenosis, Abn...	ORPHA:1715
Mosaic Trisomy 9	Micromelia, Micrognathia, Abnormal lung lobation, Hypotelorism, Finger clinodactyly, High palate,...	ORPHA:99776
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Hypot...	ORPHA:96148
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, High palate, Clinodactyly of the 5th finger, Atrial ...	OMIM:612582
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Hypertelorism, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho...	OMIM:613192
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture...	OMIM:615656
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Downturned corners of mouth, ...	OMIM:601808
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening, Pectus cari...	OMIM:182212
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Hypertelorism, Wide nasal brid...	OMIM:618067
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Clinodactyly...	OMIM:193530
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Wide nasal bridge, Hypotelorism	ORPHA:3366
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Congenita...	ORPHA:2143
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Hype...	ORPHA:329224
Tarp Syndrome	Micrognathia, Glossoptosis, Atrial septal defect, Finger syndactyly, Anteverted nares, Hypertelor...	ORPHA:2886
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs, Deep philtrum, Metaphys...	OMIM:255800
De Barsy Syndrome	Congenital hip dislocation, Prominent veins on trunk, Coxa vara, Deeply set eye, High palate, Emp...	ORPHA:2962
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Anteverted nares, Depressed n...	ORPHA:2311
Triploidy	Omphalocele, Finger syndactyly, Intestinal malrotation, Micrognathia, Hypertelorism, Non-midline ...	ORPHA:3376
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant...	OMIM:616331
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, Deep philtrum, Dental m...	ORPHA:329178
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Hypertelorism, Abnormal...	ORPHA:1834
Macs Syndrome	Irregular dentition, Brachydactyly, Dilation of Virchow-Robin spaces, Micrognathia, Pectus excava...	OMIM:613075
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Respiratory tract infection, Atelectasis, Cl...	ORPHA:244
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Hypotelorism, Atrial septal defect, Bifid uvula, Depressed nasal bridge, Tapered ...	OMIM:300968
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, Arachnodactyly, Micromelia, Sandal gap, Genu valgum, High palate, Atrial septal...	ORPHA:1035
Gaucher Disease, Type Ii	Death in infancy, Trismus, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch	OMIM:230900
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Depressed nasal br...	OMIM:122860
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog...	ORPHA:2180
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hyperte...	OMIM:253250
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Broad nasal t...	ORPHA:250999
Developmental And Epileptic Encephalopathy 89	Omphalocele, Thin upper lip vermilion, Microretrognathia, Depressed nasal bridge, Anteverted nare...	OMIM:619124
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor...	ORPHA:1354
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hypertelorism, Tapered finger...	OMIM:616977
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Bulbous nose, Wide mouth, Downturned corners of mouth, Ectodermal dysplasia,...	OMIM:273390
Alg9-Cdg	Villous atrophy, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal lef...	ORPHA:79328
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Down-sloping shoulders, Micrognathia, Pectus excavatum, Hypotelorism...	OMIM:616817
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Long nose, Dental malocclusion, Hypotelorism, Abnor...	ORPHA:2115
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricl...	ORPHA:2306
Phenobarbital Embryopathy	Mandibular prognathia, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholo...	ORPHA:1919
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Hypertelorism, Thick vermilion b...	ORPHA:1193
Schilbach-Rott Syndrome	Prominent nose, Long nose, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palat...	OMIM:164220
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndacty...	OMIM:241800
Holoprosencephaly	Congenital diaphragmatic hernia, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set e...	ORPHA:2162
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Cutis marmorata, Broad nasal tip, Bifid nasal tip, Secundum atr...	OMIM:619758
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Macroglossia, Umbilical hernia, Depressed nasal bridge	OMIM:275100
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Anteverted nar...	OMIM:247200
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Paten...	ORPHA:500159
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Atrial septal defect, Advanced eruption of teeth, Clinodactyly of the 5th finger...	ORPHA:1519
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Micrognathia, Rectal prolapse, Death in childhood, Emphysema, Pate...	OMIM:613177
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Hypertelorism, Deep philtrum, Patent ductus arteriosus, Short toe, Widely-...	ORPHA:404443
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Hypertelorism, Depressed nasal ridge, Cleft p...	ORPHA:1727
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short...	ORPHA:2751
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, P...	ORPHA:2166
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Recurrent respiratory infections, Hyperextensibility of the finger joints, Prom...	OMIM:618356
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d...	OMIM:619769
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Hypotelorism, Anterior...	ORPHA:1225
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Talipes equinovarus, Ca...	OMIM:618011
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypertelorism, Hypoplasia of the maxilla, ...	OMIM:601499
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the hand, Abnormal sternu...	ORPHA:2990
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormal rib morpho...	ORPHA:3268
Dislocation Of The Hip-Dysmorphism Syndrome	Inguinal hernia, Prominence of the premaxilla, Anteverted nares, Congenital hip dislocation, Hype...	ORPHA:2412
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Depressed nasal bridge, Intestinal malrotation, Broad nas...	OMIM:222448
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, High, narrow palate, Hypotelorism, Ectodermal dysplasia, High palate, Narr...	OMIM:218330
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Hypertelorism, Cone-shaped e...	OMIM:309350
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t...	OMIM:615524
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Hypertelorism, Deep philtrum, Orofacial cleft, Hypotelo...	OMIM:609637
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, High, ...	ORPHA:436003
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita...	ORPHA:1335
Amyotrophy, Hereditary Neuralgic	Depressed nasal bridge, Cleft palate, Hypotelorism, Deeply set eye, Brachial plexus neuropathy, N...	OMIM:162100
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Abnormal number of incisors, Prominent nose, Hypertelorism, Coxa valga, Finger c...	ORPHA:2958
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Prominent superficial blood vessels, Congenital hip dislocation, Narrow nasal ri...	OMIM:219150
Alg3-Cdg	Lipodystrophy, Abnormality of the nose, Metaphyseal chondrodysplasia, Abnormal limb bone morpholo...	ORPHA:79321
Cooper-Jabs Syndrome	Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Missing ribs, Campt...	ORPHA:1488
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Hypertelorism, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft uppe...	OMIM:264480
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:860
Cohen Syndrome	Thoracic scoliosis, Short metacarpal, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:216550
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Talipes equinovarus, Malar flattening	ORPHA:85174
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Renal cyst, Atrial septal defect, Broad ...	OMIM:229850
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Micrognathia, Equinus calcaneus, Prominent veins on tr...	ORPHA:536532
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Umbili...	OMIM:616025
Kniest Dysplasia	Hip contracture, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, ...	OMIM:156550
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Hypotelorism, Deeply set ...	OMIM:268850
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Tooth age...	ORPHA:1166
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Hypertelorism, Preaxial ...	OMIM:175700
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Hypotel...	ORPHA:1952
Tetrasomy 5P	Recurrent respiratory infections, Pericallosal lipoma, Cyanosis, Anteverted nares, Overlapping to...	ORPHA:3309
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Me...	OMIM:136760
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Abnor...	ORPHA:3035
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Hypotelorism, ...	ORPHA:536545
Intellectual Disability, Wolff Type	Microretrognathia, Inguinal hernia, Camptodactyly of finger, Hypertelorism, Bulbous nose, Thick l...	ORPHA:3080
Distal Triplication 15Q	Arachnodactyly, Micrognathia, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic arch, F...	ORPHA:314588
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Clinodactyly, Hypotelorism, Downturned corners ...	OMIM:301044
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognathia,...	OMIM:130720
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the t...	ORPHA:1790
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, High palate, Prenatal deat...	OMIM:618393
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Atrial septal defect, Neonatal death, Anteverted nares, ...	OMIM:311900
Meester-Loeys Syndrome	Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arachnodactyly, Poor wo...	OMIM:300989
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Hypotelorism, Lobulated tongue, Syndactyly, Cleft upper li...	OMIM:249000
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ...	OMIM:268310
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Microretrognathia, Spina bifida, H...	ORPHA:3380
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Rib fusion, Abnormal rib mo...	ORPHA:1988
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Microdontia, Depre...	OMIM:607014
Chromosome 5P13 Duplication Syndrome	Hypertelorism, Long fingers, Bulbous nose, Wide nasal bridge, Hypotelorism, Downturned corners of...	OMIM:613174
Koolen-De Vries Syndrome	Bicuspid aortic valve, Hypotelorism, High palate, Widely spaced teeth, Prominent fingertip pads, ...	OMIM:610443
Vascular Malformation, Primary Intraosseous	Diastasis recti, Supraumbilical raphe, Ectopic tooth eruption, Proptosis, Gingival bleeding, Umbi...	OMIM:606893
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Depressed nasal bridge, Anteve...	ORPHA:1001
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Abnormal heart valve morphology, Short...	ORPHA:1517
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Hypotelorism, Deeply ...	OMIM:612474
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Deeply set eye, Hypoplasia o...	OMIM:257850
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Cleft lip, Cleft palate, Hypotelorism, Ab...	OMIM:619123
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Rhizomelia, Micrognathia, Bowing of the legs, Coxa valga, Metaphyseal ...	OMIM:617164
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Abnormal...	ORPHA:2516
Pelger-Huet Anomaly	Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Hypertelorism, G...	OMIM:169400
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Hyperte...	ORPHA:380
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Prominent nose, Hypotelorism, Long philtrum, Retrognathia	OMIM:619691
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at...	OMIM:616749
Rin2 Syndrome	Irregular dentition, Brachydactyly, Gingival overgrowth, Abnormal lip morphology, Abnormal sternu...	ORPHA:217335
Pseudo-Torch Syndrome 1	Microretrognathia, Anteverted nares, Cleft lip, Patent ductus arteriosus, Jaundice, High palate, ...	OMIM:251290
Frank-Ter Haar Syndrome	Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Paten...	OMIM:249420
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cl...	ORPHA:3186
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Enlarged thorax, Deep...	ORPHA:251071
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal de...	ORPHA:2257
Icf Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Malabsorption, Protruding tongue, Micro...	ORPHA:2268
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Atrial septal defect, Broad hallux, Supernumerary tooth, ...	ORPHA:353281
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	High palate, Depressed nasal bridge, Wide nasal bridge, Hypotelorism	OMIM:615760
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Ventricular septal defect, Jaundice, Glossoptosis, Epiphyseal stippling	OMIM:614876
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Anteverted nares, Depre...	ORPHA:50945
Vacterl/Vater Association	Omphalocele, Occipital encephalocele, Multicystic kidney dysplasia, Finger syndactyly, Congenital...	ORPHA:887
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Prominent nose, Pectus excavatum, High, narrow palate, Abnorm...	ORPHA:3242
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelori...	OMIM:605282
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Agenes...	OMIM:601186
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Hypertelorism, Tapered finger, Hip dislocation, Wide nasal bridge, N...	OMIM:619435
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ...	ORPHA:373
Vici Syndrome	Recurrent respiratory infections, Death in infancy, Hypertelorism, Optic atrophy, Depressed nasal...	ORPHA:1493
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Hypertelorism, Patent ductus arteriosus, Bilateral cleft li...	ORPHA:2001
Luo-Schoch-Yamamoto Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Hypertelorism, Small hand, Wide mouth, Widel...	OMIM:619460
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Hypotelorism, Tibial bowing, Deeply set eye, Narr...	OMIM:612651
Prieto Syndrome	11 pairs of ribs, Inguinal hernia, Abnormality of the dentition, Prominent nose, Hypertelorism, C...	OMIM:309610
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger,...	ORPHA:2876
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Thoracic hypoplasia, Diastasis recti, Hypertelo...	OMIM:616638
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic ar...	OMIM:614846
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic scoliosis, Widened atrophic scar, High, narrow palate, Poor wound healing, Abnormality o...	ORPHA:1900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Paten...	OMIM:617751
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Optic atrophy, Abnormal rib morphology, Wide n...	ORPHA:1513
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Short ribs, Umbilical he...	OMIM:600972
Braddock Syndrome	Micrognathia, Pectus excavatum, Missing ribs, Preaxial hand polydactyly, Hypotelorism, Pulmonary ...	ORPHA:52047
Diastrophic Dysplasia	Abnormal clavicle morphology, Recurrent respiratory infections, Bowing of the long bones, Depress...	ORPHA:628
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ...	OMIM:180700
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, Deeply ...	OMIM:617602
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Mala...	ORPHA:166100
Muscular Hypertonia, Lethal	Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge ...	OMIM:252500
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Choa...	ORPHA:1199
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi...	ORPHA:2863
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Ileus, Hypotelorism, Congenital contracture, High palate, Shor...	OMIM:620156
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Inguinal hernia, Abnormal mitral valve morphology, Prominent nose, W...	ORPHA:1292
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v...	OMIM:619472
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr...	ORPHA:185
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Pectus carinatum, Downturned corners of mouth, Periodontiti...	ORPHA:955
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphol...	ORPHA:371428
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Narrow nose, Hypertelorism, Tapered finger, Bulb...	ORPHA:261311
Houge-Janssens Syndrome 3	Inguinal hernia, Broad nasal tip, Hypertelorism, Muscular ventricular septal defect, Proptosis, H...	OMIM:618354
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Ctcf-Related Neurodevelopmental Disorder	Deeply set eye, Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Microd...	ORPHA:363611
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture, V...	OMIM:603387
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ...	ORPHA:477817
Roifman-Chitayat Syndrome	Short metacarpal, Depressed nasal bridge, Pneumonia, Hypertelorism, Thin lower lip vermilion, Opt...	OMIM:613328
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palat...	ORPHA:2635
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Death in infancy, Ventricu...	OMIM:243150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Depresse...	OMIM:301040
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobati...	ORPHA:958
Shprintzen-Goldberg Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pectus carinatum, Narrow chest, Ant...	ORPHA:2462
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Hypotelorism, Prominent interphalangeal joints, S...	OMIM:135900
Neuralgic Amyotrophy	Scapular winging, Cleft palate, Narrow mouth, Sprengel anomaly, Acrocyanosis	ORPHA:2901
Congenital Sialidosis Type 2	Inguinal hernia, Protruding tongue, Respiratory tract infection, Optic atrophy, Gingival overgrow...	ORPHA:93400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Depressed nasa...	OMIM:280000
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Deeply set e...	OMIM:136140
Idiopathic Congenital Hypothyroidism	Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ...	ORPHA:95717
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue	OMIM:155900
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus cari...	ORPHA:3107
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Alpha-Mannosidosis	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Craniofacial hyperostos...	ORPHA:61
Hurler-Scheie Syndrome	Recurrent respiratory infections, Inguinal hernia, Depressed nasal bridge, Camptodactyly of finge...	OMIM:607015
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anu...	OMIM:305450
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Atrial septal defect,...	ORPHA:289
Down Syndrome	Aganglionic megacolon, Depressed nasal bridge, Prematurely aged appearance, Protruding tongue, Ab...	ORPHA:870
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Renal cyst, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th fing...	OMIM:616975
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Microretrognathia, Curved middle phalanx of the 4th toe, Depressed nasal br...	ORPHA:276413
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Umbilical hernia, Inguinal hernia, Accessory oral frenulum	ORPHA:1373
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ...	OMIM:601358
3C Syndrome	Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial s...	ORPHA:7
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,...	OMIM:601357
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th...	OMIM:612289
Heart And Brain Malformation Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Hyp...	OMIM:616920
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypertelorism, Patent ductus arteriosus,...	ORPHA:2095
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Beaded ribs, Cardiomegaly, Micrognathia, Flexion contracture, Anteverted nares, Hypertelorism, De...	OMIM:616897
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ventricular septal defect, Anteverted nares, Foot joint contracture, Micrognathi...	ORPHA:444072
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,...	OMIM:613795
Restrictive Dermopathy 2	Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Proptosis, Overtubulated ...	OMIM:619793
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Proximal ...	ORPHA:1120
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short p...	ORPHA:464738
Craniofacioskeletal Syndrome	Barrel-shaped chest, Thin upper lip vermilion, Ventricular septal defect, Choanal atresia, Trache...	OMIM:300712
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Wi...	ORPHA:250989
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Pectus excavatum, Anosmia, Cleft palate, Hypotelorism, Finger joint hypermobilit...	OMIM:244200
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Hypertelorism, Wide nasal bridge, Genu valgum, Hypoplasia of the zygomatic...	ORPHA:1778
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Atrial sep...	ORPHA:567
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M...	OMIM:618021
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana...	OMIM:608572
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Flexion contracture, High palate, Hypotelorism	OMIM:616281
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Flexion contracture, Pectus carinatum, Widely spaced teeth, Narrow greater sciati...	OMIM:253220
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Deeply set eye, ...	OMIM:141300
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Atrial septal defect, Atrioventricular c...	OMIM:600373
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Trisomy 20P	Micrognathia, Downturned corners of mouth, Short philtrum, Hernia, Microdontia, Finger syndactyly...	ORPHA:261318
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypotelorism, Hypoplastic coccyg...	OMIM:619512
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe...	ORPHA:2919
Schisis Association	Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Micromelia, Anencephal...	ORPHA:63862
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, Deeply set eye, High palate, Short ph...	ORPHA:3310
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, 2-3 toe syndac...	OMIM:613443
Orofaciodigital Syndrome Xv	Anteverted nares, Broad hallux, Hypertelorism, Postaxial hand polydactyly, Duplication of phalanx...	OMIM:617127
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ...	OMIM:619657
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Deeply set eye, Tibial bowing, Smooth ton...	OMIM:601559
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap...	OMIM:616652
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Deeply set eye, Abnormal sternum morphology, High pal...	OMIM:614816
Familial Visceral Myopathy	Aganglionic megacolon, Prominent nasal bridge, Anteverted nares, Camptodactyly of finger, Microgn...	ORPHA:2604
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Prominent nose, Micromelia, Coxa vara, Hypoplastic iliac w...	ORPHA:2637
Monosomy 18Q	Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Downturned corners of mouth...	ORPHA:1600
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis re...	ORPHA:254519
Holoprosencephaly 7	Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Median cleft palate, Bilateral cleft lip,...	OMIM:610828
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Micrognathia, Tapered finger, Bulbous ...	OMIM:614501
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia,...	OMIM:615879
Fraser Syndrome	Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, High palate, Encephaloc...	ORPHA:2052
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Prominent superficial veins, Inguinal hernia, Arachnodactyly, Po...	OMIM:130080
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho...	OMIM:618363
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Camptoda...	OMIM:300963
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Sandal gap, Pectus...	OMIM:617877
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217085
Pallister-Hall Syndrome	Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Neonatal death, Distal shortening of ...	OMIM:146510
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Pectus excavatum, ...	OMIM:104350
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Overlapping toe, Micrognath...	OMIM:613884
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial t...	ORPHA:284984
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Pectu...	OMIM:312870
Distal Deletion 3P	Inguinal hernia, Anteverted nares, Micrognathia, Hypertelorism, Postaxial hand polydactyly, Cleft...	ORPHA:1620
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Abnormality of the dentition, Micrognathia, Thick lower lip vermilion...	ORPHA:85321
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypotelorism, Downturned corner...	OMIM:264090
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin...	ORPHA:794
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Anomalous origin of left corona...	ORPHA:2326
Pentasomy X	Camptodactyly of finger, Micrognathia, Hypertelorism, Patent ductus arteriosus, Small hand, Wide ...	ORPHA:11
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Broad ribs, Broad metac...	OMIM:608328
Grant Syndrome	Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal rib morpholog...	ORPHA:2097
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Broad hallux, Protruding tongue, Mic...	OMIM:617062
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Atrial septal defect, Clinodactyly of the 5th fi...	ORPHA:261330
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Poly...	ORPHA:1770
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala...	OMIM:263650
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Facial palsy, Abnormal rib morphology, Torus pa...	ORPHA:2790
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Short toe, G...	OMIM:225410
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cl...	OMIM:256050
Gapo Syndrome	Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Reti...	OMIM:230740
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217093
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Hyper...	OMIM:301056
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol...	ORPHA:666
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Hyperte...	OMIM:616449
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Transient Neonatal Diabetes Mellitus	Macroglossia, Umbilical hernia, Abnormal heart morphology	ORPHA:99886
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventric...	ORPHA:1908
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Orofaciodigital Syndrome Iii	Hypertelorism, Pectus excavatum, Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, T...	OMIM:258850
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Micrognathia, Glossoptosis, High palate, Anteverted nares, Rhizomelia, Hypert...	OMIM:611209
Wrinkly Skin Syndrome	Congenital hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Prominent ve...	ORPHA:2834
Congenital Disorder Of Glycosylation, Type Iif	Hypotelorism, Deeply set eye, Short philtrum, Clinodactyly, Subcutaneous hemorrhage, Pulmonary he...	OMIM:603585
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Anteverted nares, Protrudin...	OMIM:610253
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Long nose, Hypotelorism, Deeply ...	OMIM:300486
Hyperparathyroidism, Transient Neonatal	Inguinal hernia, Short femur, Anteverted nares, Depressed nasal bridge, Metaphyseal spurs, Patent...	OMIM:618188
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Omphalocele, Multicystic kidney dysplasia, Death in ...	ORPHA:991
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Long nose, Clinodactyly, Dilated cardio...	OMIM:616541
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Dental crowding, Micrognat...	ORPHA:2789
Lig4 Syndrome	Recurrent respiratory infections, Prominent nose, Wide nasal bridge, Hypotelorism, Telangiectasia...	OMIM:606593
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn...	ORPHA:91387
Immunodeficiency 49	Natal tooth, Micrognathia, Hypertelorism, Pulmonary artery stenosis, Short philtrum, Umbilical he...	OMIM:617237
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Abnormality of the dentition, Micrognathia, Wide nasal bridge, Thin rib...	OMIM:617952
3Mc Syndrome 1	Omphalocele, Conjunctival telangiectasia, Ventricular septal defect, Dental crowding, Diastasis r...	OMIM:257920
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Telangiectasia, Livedo, Conical incisor, Facial telangiectasia, Enamel hypoplasia,...	OMIM:614564
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Abnormality of the philtrum, Choanal atresia, Aplasia/Hypoplasi...	ORPHA:2759
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Micrognathia, Hypertelorism, Flexion contracture, Depressed nasal ridge, Cleft p...	OMIM:312150
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft p...	OMIM:202650
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Suleiman-El-Hattab Syndrome	Microretrognathia, Optic disc pallor, Thin upper lip vermilion, Recurrent respiratory infections,...	OMIM:618950
Arthrogryposis Multiplex Congenita 5	Micrognathia, Flexion contracture, Death in infancy, Anteverted nares, Wide nasal bridge, Promine...	OMIM:618947
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death...	OMIM:608978
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Malabsorption,...	OMIM:242860
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos...	OMIM:614815
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Choanal stenosis, High palate, Microdontia, Neon...	OMIM:259775
Thyroid Hemiagenesis	Macroglossia, Jaundice, Umbilical hernia	ORPHA:95719
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Pectus carinatum, Knee flexion contracture,...	OMIM:614976
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Hypoplasia o...	ORPHA:33364
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
C Syndrome	Congenital diaphragmatic hernia, Micrognathia, Micromelia, High palate, Clinodactyly of the 5th f...	ORPHA:1308
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Abnormal lung lobatio...	ORPHA:508488
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Jaundice, Umbilical hernia	ORPHA:2349
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Deeply set eye...	OMIM:616268
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo...	OMIM:241310
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Atrial septal defect, Ecchymosis, Long philtrum, Microretrognathia, Arachnodactyly, ...	OMIM:601776
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Hypotelorism, Deeply set eye, Oligodontia, High palate, Short ...	OMIM:309590
Vici Syndrome	Recurrent respiratory infections, Wide nose, Median cleft lip, Depressed nasal bridge, Everted up...	OMIM:242840
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog...	ORPHA:254534
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Degcags Syndrome	Prominent nose, Micrognathia, Hypotelorism, Premature graying of hair, High palate, Atrial septal...	OMIM:619488
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar...	OMIM:214800
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Scarf Syndrome	Inguinal hernia, Diastasis recti, Pectus carinatum, Short sternum, Long philtrum, Umbilical herni...	ORPHA:3134
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth, Narrow chest, High palate, Micro...	OMIM:266920
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Optic atrophy, Narrow p...	ORPHA:1555
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal bridge, Narr...	OMIM:617925
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Thick vermil...	ORPHA:251076
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Hy...	OMIM:147250
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar...	ORPHA:3241
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Hyperte...	ORPHA:2752
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect...	OMIM:300166
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Hypertelorism, Non-midline cleft lip, Myelomeningocele, Wi...	ORPHA:1752
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:616835
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal de...	OMIM:300000
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Brachydactyly,...	OMIM:300534
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Anteverted nares, Missing ribs, Short thorax, Abnormal rib morp...	ORPHA:1797
Charlie M Syndrome	Finger syndactyly, Micrognathia, Hypertelorism, Non-midline cleft lip, Split hand, Wide nasal bri...	ORPHA:1406
Omodysplasia 1	Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Incre...	OMIM:258315
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p...	OMIM:608612
Developmental And Epileptic Encephalopathy 95	Inguinal hernia, Multiple joint contractures, Short fourth metatarsal, Brachydactyly, Cardiomegal...	OMIM:618143
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Joint contr...	OMIM:618914
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, High palate, Transposition of th...	ORPHA:1913
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing...	ORPHA:798
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Abnormal lung lobatio...	ORPHA:818
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na...	ORPHA:93946
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodactyly of the 5th f...	ORPHA:96167
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypopla...	ORPHA:79345
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa...	ORPHA:435638
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte...	OMIM:313850
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossopto...	OMIM:620269
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Anteriorly placed anus, D...	ORPHA:1299
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Tapered finger, Submucous clef...	OMIM:619680
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morphol...	ORPHA:226313
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal bridge, Scarring, Protruding tongue,...	ORPHA:99843
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture, Hypotelorism	OMIM:619091
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Hypertel...	ORPHA:284417
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pu...	ORPHA:800
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High ...	OMIM:117650
Hydrolethalus Syndrome 1	Omphalocele, Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventricular...	OMIM:236680
Stormorken Syndrome	Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like episode, Hypotelorism, Deeply set...	OMIM:185070
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Inguinal hernia, Intestinal pseudo-obstruction, Abnormal ...	OMIM:309900
Constricting Bands, Congenital	Omphalocele, Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Ab...	OMIM:217100
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Juvenile Sialidosis Type 2	Inguinal hernia, Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal heart morphology...	ORPHA:93399
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Hypotelorism, Cutaneous photosensitivity, Eclabion,...	OMIM:616395
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, Atrial septal defect, Patent f...	OMIM:617506
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Rocker bottom foot, Micrognathia, Pericardial effusion, Carious teeth, Tapered ...	OMIM:620070
Wrinkly Skin Syndrome	Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High palate, Mic...	OMIM:278250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae...	ORPHA:438216
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Intra...	ORPHA:740
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Synostosis of carpal bones, H...	ORPHA:3258
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hyperte...	OMIM:618142
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Pectus excavatum, Micrognathia, Hyp...	OMIM:258860
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal f...	ORPHA:896
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Papilledema, Peripheral arterial stenosis, Wide nasal bridge...	ORPHA:580
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Ventricular septal ...	OMIM:174300
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Prominent nose, Micrognathia, Patent ductus arteriosus, ...	ORPHA:96191
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Cleft uppe...	OMIM:304110
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Orofacial cleft...	ORPHA:2077
Galloway-Mowat Syndrome	Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hiatus hernia, Hypertelorism...	ORPHA:2065
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl...	OMIM:217095
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci...	OMIM:300232
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Hypertelorism, Flexion contracture, Depressed nasal ridge, Cleft palate, Thin ribs,...	OMIM:253290
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ...	ORPHA:99050
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel anomaly, Pru...	OMIM:601389
Menkes Disease	Micrognathia, Venous insufficiency, Intracranial hemorrhage, Narrow chest, Hernia, Abnormal carot...	ORPHA:565
Holoprosencephaly 11	Cleft lip, Proptosis, Cleft palate, Hypotelorism	OMIM:614226
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ...	ORPHA:2643
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Prominent nasal bridge, Diastasis recti, Wide nasal bridge,...	OMIM:312830
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Patent foramen ovale, Depressed nasal bridge, Hyperte...	ORPHA:163956
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmona...	OMIM:617478
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Muscular ventricular septal defect, Brachydactyly, Adducted thumb	OMIM:620062
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori...	OMIM:620294
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Ventr...	ORPHA:2970
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricul...	OMIM:309520
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou...	ORPHA:280
Coffin-Siris Syndrome 12	Micrognathia, Hypotelorism, Deeply set eye, High palate, Patent foramen ovale, Anteverted nares, ...	OMIM:619325
Down Syndrome	Short palm, Atrial septal defect, Hypoplastic iliac wing, Atrioventricular canal defect, Patent f...	OMIM:190685
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Micrognathia, Long...	ORPHA:52
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Cyanosis, Anteverted nares, Bowing of the...	OMIM:619879
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, ...	ORPHA:84
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Deeply s...	ORPHA:286
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Anteverted nares, Abnormal dental enam...	ORPHA:582
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypotelorism, Short philtrum, Clinodactyly of the 5th finger, Median cleft...	ORPHA:1449
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atroph...	OMIM:618651
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Depressed nasal bridge, Rhizomelia, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Camptodactyly of finger, Hypertelorism, Arachnodactyly, Abnorm...	ORPHA:83
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal...	OMIM:614524
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Prominent nose, Secundum atrial septal defect, Micrognathia, Clinodactyly, Pectus ...	OMIM:620194
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Downturned corners of mouth, Hypotelorism	OMIM:618718
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Shoulder dislocation, Umbilical hernia, Adducted thumb	ORPHA:2181
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p...	ORPHA:2522
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Inguinal hernia, Depressed nasal bridge, Optic nerve hypoplasia, Anteverted nares,...	OMIM:222765
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the legs, Flexion contracture, Narrow chest, Encephalocele, W...	ORPHA:1865
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Anteverted nares, Femoral hernia, Protruding tongue, Hypertelorism, Conotruncal ...	ORPHA:96147
Familial Thyroid Dyshormonogenesis	Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ...	ORPHA:95716
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal al...	ORPHA:398156
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Mandibular prognathia, Lipoatrophy, Prematurely aged appeara...	ORPHA:2963
Omphalocele	Omphalocele	ORPHA:660
Tolchin-Le Caignec Syndrome	Arachnodactyly, Diastasis recti, Prominent nose, Micrognathia, Hypertelorism, Submucous cleft har...	OMIM:618971
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Depressed nasal bridge, Hypertelorism, Pectus excavatum, T...	OMIM:607131
Okamoto Syndrome	Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated...	ORPHA:2729
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Deeply set...	OMIM:619148
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, M...	ORPHA:2750
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Hypotelorism, Premature graying of h...	OMIM:194050
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Dental crowding, Arachnodactyly, Poor wound healing, Hypertelorism, Adducted thu...	OMIM:615539
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Pectus excavatum, Hypotelorism, High palate, Lipoma	ORPHA:502423
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Depressed nasal bridge, Optic nerve hypoplasia, Anteverted nares, Broad nasal tip, Hypertelorism,...	ORPHA:221139
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Multicystic kidney dysplasia, Missi...	ORPHA:3301
Pallister-Hall Syndrome	Depressed nasal ridge, Abnormal lung lobation, Atrial septal defect, Atrioventricular canal defec...	ORPHA:672
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa v...	OMIM:615582
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Orofaciodigital Syndrome Xvii	Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Ce...	OMIM:617926
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Cyclo...	OMIM:301043
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Deeply set eye, High palate, Atrial septal defect, Patent foramen ovale, Wide nasal...	OMIM:270450
3M Syndrome	Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Enlarged thorax, C...	ORPHA:2616
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Inguinal hernia, Death in infancy, Ventricular septal defect, Thyroid l...	OMIM:235255
Trisomy 17P	Prominent nose, Micrognathia, Flexion contracture, Orofacial cleft, High palate, Clinodactyly of ...	ORPHA:261290
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Micrognathia, Bulbous nose, Calcane...	OMIM:615065
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Deeply set eye, Thick vermilion border, Sh...	ORPHA:364028
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Wide distal femoral metaphysis, Pectus carinatum, Femoral bowi...	OMIM:614856
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati...	ORPHA:96170
Focal Dermal Hypoplasia	Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata,...	OMIM:305600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Protruding t...	ORPHA:324410
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Hypertelorism, Op...	ORPHA:561
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Omphalocele, Micromelia, Hypertelorism, Postaxial hand polydactyly, Hypoplasia...	OMIM:200995
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Thick lower lip vermilion, Recu...	ORPHA:583
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Inguinal hernia, Anteverted nares, Wide nasal bridge, Death in childhood, Long...	OMIM:614052
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Absent frontal sinuses, Knee flexion contracture, In...	OMIM:305620
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Abnormal heart valve morphology, Grayish enamel, Carious ...	OMIM:253000
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Deeply set eye, Short philtrum, Narrow nasal ridge, Varicose veins...	OMIM:618343
Peters Plus Syndrome	Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely sp...	ORPHA:709
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, P...	ORPHA:776
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, High, narrow palate, Knee flexion contracture, High palate, Short ph...	OMIM:613776
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ...	ORPHA:1427
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept...	OMIM:303600
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Anteverted nares, Depressed nasal bridge, Short thor...	OMIM:612921
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Deepl...	OMIM:609029
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Hypertelorism, Cleft lip, Patent ductus arteriosus, Doub...	OMIM:618223
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Deeply set eye, Cutaneou...	OMIM:618332
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Renal cyst, Narrow chest, Short palm, Depressed nasal bridge, Cleft upp...	ORPHA:93271
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Wide nasal bridge, High palate, Clinodactyly of the 5th fing...	ORPHA:324313
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Atrial...	OMIM:614886
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna...	OMIM:601803
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contractur...	OMIM:620369
Seckel Syndrome 7	Prominent nose, Abnormal carpal morphology, Hypotelorism, Hip dysplasia, Clinodactyly of the 5th ...	OMIM:614851
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad...	ORPHA:276432
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Hypertelorism, Bulbous nose...	OMIM:617982
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Tapered finger, Thick lower lip vermi...	ORPHA:261652
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te...	ORPHA:83450
Diets-Jongmans Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he...	OMIM:618846
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Atrial septal defect, Hypoplastic tricuspid valve, Patent forame...	OMIM:600001
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Hypertelorism, Tapered finger, Cleft lip, Hip dislocation, Cleft palate, ...	OMIM:301066
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Hartnup Disorder	Cutaneous photosensitivity, Glossitis	OMIM:234500
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ...	ORPHA:93
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia,...	OMIM:618580
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty...	ORPHA:65759
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Patent ductus arteriosus, Aortic ru...	OMIM:614557
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Proximal placement of thumb, Thoracolumbar kyphoscoliosis, Diastema, Gingi...	OMIM:212066
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Recurrent upper respiratory tract infections, Asymmetric septal ...	OMIM:252900
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Hypertelorism,...	OMIM:612561
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Prominent nose, Micrognathia, Hypertelorism, Wide nasal bridge...	OMIM:201170
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Aspiration pneumoni...	ORPHA:581
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Metatarsus adductu...	ORPHA:584
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Micrognathia, Hypertelorism, Patent ductus arteriosus, Coarctation of aorta, Bel...	OMIM:614857
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Facial palsy, Micrognathia, High, narrow palate, Facial hyperostosis, ...	ORPHA:2780
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal d...	ORPHA:163979
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Ventricular septal defect, U...	ORPHA:85202
Feingold Syndrome 1	Micrognathia, High palate, Anteverted nares, Esophageal atresia, Patent ductus arteriosus, Short ...	OMIM:164280
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Pectus carinatum, Her...	ORPHA:363705
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morphology, Hypotelorism...	ORPHA:556955
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, Deeply set eye, High palate, He...	OMIM:193700
Gm1-Gangliosidosis, Type I	Death in infancy, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Hypertelorism...	OMIM:230500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypertelorism, Carious teeth, Micrognathia, Flared metaphysis, Hypoplastic pubic bone, Glossoptos...	ORPHA:93346
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Narrow mouth, Ab...	ORPHA:77301
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ...	OMIM:263000
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth, Hypotelorism, Triphalangeal thumb, Brachydactyly	OMIM:604757
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ...	ORPHA:2754
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Recurrent respiratory infections, Tented upper lip vermilion, Diastasis...	OMIM:616579
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Hypertelorism, Bulbous nose, Clinodactyly, Wide mouth, Macroglossia, Ever...	OMIM:616789
48,Xxyy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Inguinal hernia, Broad jaw, Abnormal...	ORPHA:10
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Scarring, Abn...	ORPHA:530
Mucolipidosis Type Ii	Recurrent respiratory infections, Hip contracture, Inguinal hernia, Depressed nasal bridge, Abnor...	ORPHA:576
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Optic disc pallor, Thickened ribs, Depressed nasal bridge, Pneumonia, Hype...	ORPHA:309282
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Asbestos Intoxication	Cyanosis, Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, Abnormal pulmonary...	ORPHA:2302
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Shoulder dislocat...	ORPHA:287
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Prominent superficial veins, Dental crowding, Left atrial enlargement, Lipoatr...	OMIM:614008
Holoprosencephaly 9	Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hy...	OMIM:610829
Giant Cell Arteritis	Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis...	ORPHA:397
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Hypotelorism, Retro...	OMIM:617050
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar deviation of the hand o...	OMIM:214100
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata...	OMIM:617137
Arterial Tortuosity Syndrome	Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, Prematurely aged appearance, Arachnoda...	ORPHA:3342
Marden-Walker Syndrome	Inguinal hernia, Anteverted nares, Dextrocardia, Arachnodactyly, Micrognathia, Hypertelorism, Hig...	OMIM:248700
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the abdominal wall musculature, Te...	ORPHA:1926
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Prominent nasal bridge, Facial palsy, Hypertelorism, Abnormal rib morp...	ORPHA:3068
Hyperlysinemia	Recurrent pneumonia, Depressed nasal ridge, Hypotelorism, Pulmonary artery hypoplasia, High palat...	ORPHA:2203
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Optic disc pallor, 2-5 finger syndactyly, Multiple joint contractures, Optic n...	ORPHA:468631
Sialidosis Type 2	Inguinal hernia, Short thorax, Flexion contracture, Pectus carinatum, Umbilical hernia	ORPHA:87876
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa...	OMIM:600987
Lymphedema, Primary, With Myelodysplasia	Hypotelorism, Tapered finger, Long fingers, Cellulitis	OMIM:614038
Ramos-Arroyo Syndrome	Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Hypertelorism, Carious teeth, Pa...	ORPHA:1051
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o...	ORPHA:1307
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Pectus carina...	OMIM:245600
Martin-Probst Syndrome	Micrognathia, Hypertelorism, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, T...	OMIM:300519
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Me...	ORPHA:2804
Giacheti Syndrome	Hypotelorism	OMIM:612917
Seckel Syndrome 2	Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, ...	OMIM:613680
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio...	OMIM:619322
Carey-Fineman-Ziter Syndrome	Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequ...	ORPHA:1358
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Broad metacarpals, Hypoplastic c...	ORPHA:56304
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor...	ORPHA:2063
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa...	ORPHA:980
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Clinodactyly of the 5th fi...	OMIM:616580
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Depressed nasal bridge, Hypertelorism, High palate, Umbilical hernia	OMIM:614520
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, U...	ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni...	OMIM:219100
Sclerosteosis 1	Mandibular prognathia, Papilledema, Syndactyly, Cortically dense long tubular bones, Depressed na...	OMIM:269500
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Inguinal hernia, Anteverted nares, Choanal atresia, Rhizomelia, Mic...	ORPHA:2645
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Depressed nasal bridge, Anteverted nares, Cardiac myxom...	OMIM:181270
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Atr...	ORPHA:453499
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr...	OMIM:267000
Hurler Syndrome	Abnormal clavicle morphology, Recurrent respiratory infections, Death in infancy, Anteverted nare...	ORPHA:93473
Larsen Syndrome	Short metatarsal, Pectus carinatum, Shallow orbits, Atrial septal defect, Spina bifida occulta, H...	OMIM:150250
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Hyp...	OMIM:142946
Diaphanospondylodysostosis	Inguinal hernia, Depressed nasal bridge, Missing ribs, Micrognathia, Hypertelorism, Depressed nas...	OMIM:608022
Sweeney-Cox Syndrome	Micrognathia, High palate, Narrow chest, Short philtrum, 2-5 toe syndactyly, Patent foramen ovale...	OMIM:617746
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Underdeveloped nasal alae, Abnormality of the dentition, High, narr...	ORPHA:2108
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Congenital...	OMIM:614437
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Cyclopia, Situs inversus totalis, Absent nares, Narrow mou...	ORPHA:990
Distal Deletion 19P	Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, C...	ORPHA:96129
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum, Knee flexi...	OMIM:271665
White Forelock With Malformations	Finger syndactyly, Hypertelorism, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th...	ORPHA:2475
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing...	ORPHA:2928
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal...	OMIM:215140
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ...	ORPHA:904
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Clinodactyly, Optic atrophy, Double outlet right ventri...	OMIM:618164
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Branchial fist...	ORPHA:861
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Na...	OMIM:213980
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Short palm, Diastasis recti, Underdeveloped nasal alae, Bifid distal phalanx of the ...	OMIM:618419
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,...	ORPHA:513456
Heterotaxy, Visceral, 5, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Atriov...	OMIM:270100
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Dextrocardia, Micrognathia, Pectus excavatum, High, narrow palate, Hyperteloris...	ORPHA:96092
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Large tarsal bones, Micrognathia,...	OMIM:215150
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Knee flexion contracture	ORPHA:496689
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Ectodermal dysplasia, Fused teeth, High palate, Narrow chest, Widely sp...	OMIM:613610
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu...	ORPHA:449400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Pectus excavatum, Bifid nasal tip, Bilateral cleft lip and palate, Mitr...	OMIM:618874
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Pectus carinatum, Tibial bowing,...	ORPHA:175
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Ant...	OMIM:157800
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Nasal polyposis, Transient ischemic attack, Abnormal pericardium morpholo...	ORPHA:183
48,Xxxy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Inguinal hernia, Mandibular prognath...	ORPHA:96263
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Radio-Renal Syndrome	Multicystic kidney dysplasia, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow pala...	ORPHA:3015
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Hypertelorism, Short thumb, Hypoplasia of the radius, Abnormal rib mor...	ORPHA:2319
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Congenital Heart Block	Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff...	ORPHA:60041
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Diastasis recti, Flexion contracture, Hypotelorism, Shallow orbits, Hip dysplasi...	ORPHA:440713
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned ...	ORPHA:261494
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Bruising susceptibility, Hernia	ORPHA:75497
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Inguinal hernia, Lipo...	OMIM:269880
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, Anteverted nares, Hypotelorism, High palate, Talipes equinovarus, Open mo...	OMIM:619743
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology	DECIPHER:52
Neonatal Marfan Syndrome	Long toe, Lipoatrophy, Arachnodactyly, Micrognathia, High, narrow palate, Abnormal cardiac ventri...	ORPHA:284979
Mosaic Trisomy 16	Syndactyly, Single coronary artery origin, Ventricular septal defect, Abnormality of the nose, La...	ORPHA:1708
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, High palate, Hypotelorism	OMIM:619053
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Deeply set eye, ...	ORPHA:534
Hamamy Syndrome	Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, Syndac...	OMIM:611174
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Micro...	ORPHA:570
Acrocardiofacial Syndrome	Atrial septal defect, Finger syndactyly, Death in infancy, Cleft upper lip, Hypertelorism, Split ...	ORPHA:2008
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Broad nasal tip, Protruding tongue, Hypertelorism, Submucous cl...	OMIM:618106
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Pectus excavatum, Micrognathi...	OMIM:619699
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Anteverted nares, Facial palsy, Broad nasal tip, Micrognathia, Trismus, T...	OMIM:254940
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Broad nasal tip, Micrognathia, Hypertelorism, 2-3 toe syndactyly, Cleft palate, ...	OMIM:239800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, High, narrow p...	ORPHA:1101
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Micrognathia, Pectus excavatum, Hypertelorism, Abnormal tib...	ORPHA:363700
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the...	OMIM:614407
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Broad nasal tip, Ca...	ORPHA:357074
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Dental crowding, Optic atrophy, 2-3 to...	ORPHA:313892
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Pectus carinatum, Glossoptosis, A...	ORPHA:828
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Inguinal hernia, Epiphyseal dysplasia, Bicuspid aortic valve, Metatarsu...	OMIM:611962
Glutathionuria	Hypotelorism	OMIM:231950
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, High palate, M...	ORPHA:536467
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Retinal telangiectasia, Facial palsy, Tongue atrophy	OMIM:158900
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip...	OMIM:619343
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:220386
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Clinodactyly o...	OMIM:260660
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Cyanosis, Congenital hip dislocation, Narrow...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Cyanosis, Congenital hip dislocation, Narrow...	ORPHA:98914
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Abnormal rib morphology, Cleft palate, Abnormal shoulder...	ORPHA:2345
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Arachnodactyly, Cardiomegaly, Pectus excavatum, Hypertelorism, Thin metacarpal cortice...	ORPHA:2463
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin...	ORPHA:3352
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Carotid artery tortuosity, Dental crowding, Hiatus hernia, Pectus exc...	OMIM:619329
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Broad hallux, Hypertelorism, Pectus ex...	ORPHA:457284
Aspergillosis	Sinusitis, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, Nasa...	ORPHA:1163
Craniotelencephalic Dysplasia	Frontal encephalocele, Optic nerve hypoplasia, Hypotelorism	OMIM:218670
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognathia, Hyperteloris...	ORPHA:96061
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Oligodontia, High palate, Nar...	OMIM:224300
Ellis-Van Creveld Syndrome	Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Atrial septal defec...	OMIM:225500
Dextrocardia	Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnorma...	ORPHA:1666
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mo...	ORPHA:531151
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Hypertelorism, Thick lower lip vermilion, Dental malo...	OMIM:157980
Digeorge Syndrome	Inguinal hernia, Ventricular septal defect, Femoral hernia, Micrognathia, Hypertelorism, High, na...	OMIM:188400
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Clinodactyly of th...	OMIM:301022
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Micromelia, High, narrow palate, Proximal placemen...	OMIM:122470
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Hypertelorism, Wide nasal ...	ORPHA:2062
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Hypertelorism, Abnormal nasal morp...	OMIM:200110
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,...	OMIM:619268
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Mitral valve prolapse, Pectus carinat...	OMIM:616166
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig...	OMIM:612313
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Femoral-Facial Syndrome	Short fourth metatarsal, Micrognathia, Humeroradial synostosis, Rib fusion, Absent vertebra, Pulm...	OMIM:134780
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Pier...	OMIM:620183
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Death in childhood, Sh...	OMIM:613848
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
49,Xxxxy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Wide nose, Mandibular prognathia, De...	ORPHA:96264
Frontorhiny	Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Hypertelorism, Hypoplasia of the max...	ORPHA:391474
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na...	OMIM:619995
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Short palm, ...	ORPHA:85201
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Pectus excavatum, Branchial anomaly, High palate, Hypoplasi...	ORPHA:1131
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Dilation of Virchow-Robin spaces, Micrognathia, Dental malocclusion, Wide nasal...	ORPHA:73223
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia	OMIM:274400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsal, Micrognathia, Short philtr...	OMIM:619841
Hydrocephaly-Low Insertion Umbilicus Syndrome	Wide nose, Long nose, Abnormal thorax morphology, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:2184
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern...	ORPHA:2847
Silver-Russell Syndrome Due To 11P15 Microduplication	Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:231144
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Hypertelorism, Recurrent pneumonia, Wide nasal bridge,...	OMIM:619179
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Mucopolysaccharidosis Type 1	Sinusitis, Enlarged thorax, Widely spaced teeth, Hernia, Microdontia, Thick nasal alae, Depressed...	ORPHA:579
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Deeply set eye, Atrial sep...	OMIM:613458
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Shallow orbits, Death in childhoo...	OMIM:619127
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Hypotelorism, Hypoplasia of the zygomatic bone, High palate, Long philtru...	OMIM:618500
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty...	ORPHA:261243
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Micrognathia, Cleft palate, Long philtrum, Umbilical hernia	ORPHA:2505
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Hypertelorism, Bulbous ...	OMIM:616788
Iniencephaly	Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Spin...	ORPHA:63259
Cohen-Gibson Syndrome	Depressed nasal bridge, Hypertelorism, Coxa valga, Long fingers, Patent ductus arteriosus, Flexio...	OMIM:617561
Kinsship Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced t...	OMIM:619297
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Sho...	OMIM:261540
Charge Syndrome	Abnormal tibia morphology, Clinodactyly of the 5th finger, Depressed nasal bridge, Facial palsy, ...	ORPHA:138
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Inguinal hernia, Abnormal heart valve morphology, Recurrent shoulder dislocation, ...	ORPHA:230851
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hypotelorism, Wide mouth, High palate, Death in childhood, Short nose, Co...	OMIM:300661
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Protruding tongue, Secundum atrial septal defect, Micrognathia, Jaun...	OMIM:608779
Musculocontractural Ehlers-Danlos Syndrome	Abnormal sternum morphology, High palate, Microretrognathia, Hypertelorism, Tapered finger, Cleft...	ORPHA:2953
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil...	OMIM:616737
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hypoplastic ili...	OMIM:139210
Hydrolethalus	Tracheal atresia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard pala...	ORPHA:2189
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Hypotelorism	ORPHA:477673
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Metaphysea...	ORPHA:536471
Fanconi Anemia, Complementation Group D2	Hypertelorism, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Short thumb, Preaxial ...	OMIM:227646
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia	ORPHA:95706
Cerebellofaciodental Syndrome	Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all distal phalange...	OMIM:616202
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Hypotelorism, Wide mouth, Genu va...	OMIM:617798
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:352665
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Kabuki Syndrome 2	Natal tooth, Prominent fingertip pads, Broad nasal tip, Micrognathia, Lower lip pit, Dental maloc...	OMIM:300867
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard...	OMIM:618280
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Prominent nose, Long nose, Missing ribs, Bulbous nose, ...	ORPHA:2769
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia, Talipes equinovarus, Pectus carinatum	OMIM:617662
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Anteverted nares, Depressed nasal bridg...	OMIM:252940
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Retinal Dystrophy With Leukodystrophy	Cleft palate, Hypotelorism	OMIM:618863
3Mc Syndrome	Diastasis recti, Hypertelorism, Abnormal nasal morphology, Hip dislocation, Orofacial cleft, Down...	ORPHA:293843
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vas...	ORPHA:2331
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Non-m...	ORPHA:2075
Caudal Duplication	Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida	ORPHA:1756
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Ohdo Syndrome, X-Linked	Prominent nose, Micrognathia, High palate, Narrow chest, Widely spaced teeth, Microdontia, Depres...	OMIM:300895
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal...	OMIM:114290
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Immunodeficiency 59 And Hypoglycemia	Malabsorption, Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Pec...	OMIM:233600
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas...	ORPHA:3474
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Cyanosis, High palate, Facial palsy	ORPHA:98913
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ...	OMIM:620186
Restrictive Dermopathy	Multiple joint contractures, Micrognathia, Atrial septal defect, Aplasia/Hypoplasia involving the...	ORPHA:1662
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Mandibular prognathia, Wide nose, Anteverted nares, Prominen...	ORPHA:769
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phosph...	OMIM:265120
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal bridge, Rhizomel...	OMIM:151210
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Optic atrophy	ORPHA:216873
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Thin upper lip vermilion, Congenital hip dislocation, Depressed nasal bridge, ...	OMIM:244450
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal ...	OMIM:271640
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Hypert...	ORPHA:261197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Microgn...	OMIM:614080
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Pectus carinatum, H...	ORPHA:79255
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Inguinal hernia, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cl...	OMIM:619122
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Pat...	ORPHA:141127
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Microgna...	ORPHA:1393
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, S...	OMIM:224410
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Clubbing of fingers, Gingival bleeding, Left ventricular hype...	ORPHA:335
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Pitt-Hopkins Syndrome	Aganglionic megacolon, Prominent nasal bridge, Anteverted nares, Hiatus hernia, Tapered finger, T...	ORPHA:2896
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hypoplasia of t...	OMIM:184250
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology, Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Hypertelorism, Tapered f...	ORPHA:488642
Cardiac Valvular Dysplasia 1	Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis...	OMIM:212093
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Hypertelorism, Abnormal thorax morphology, Metaphyseal widening, ...	ORPHA:73230
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n...	ORPHA:391641
Holoprosencephaly 2	Aplasia of the nasal bone, Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Sub...	OMIM:157170
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia,...	OMIM:618820
Lethal Congenital Contracture Syndrome Type 1	Hypertelorism, Micrognathia, Abnormal rib morphology, Slender long bone, Pulmonary hypoplasia, Ab...	ORPHA:1486
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Brachydactyly, Right atrial enlargement, Esophageal varix, Pulmonic ...	OMIM:616028
Amme Complex	Thin upper lip vermilion, Inguinal hernia, Depressed nasal bridge, Diastasis recti, Sandal gap, C...	OMIM:300194
Surfactant Metabolism Dysfunction, Pulmonary, 3	Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat...	OMIM:610921
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Clubbing, Pulmonary arteriovenous fistulas, Telan...	ORPHA:2038
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Prominent nasal b...	ORPHA:96097
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ...	OMIM:208530
Colonic Atresia	Omphalocele, Peptic ulcer, Duodenal stenosis, Abdominal situs inversus, Gastroschisis, Colonic at...	ORPHA:1198
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Intestinal malrotation, Pectus excavatum, Esophageal varix, Abnormal pulmonary i...	OMIM:613658
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Missing ribs, Micrognathia, Absent thumb, Absent radius, Humeroradial syno...	OMIM:251230
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Depressed nasal bridge, Broad hallux, Sandal gap, Abno...	ORPHA:404448
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Prominent nasal bridge, Micrognathia, Pectus excavatum, Deeply set eye, Ectoderm...	OMIM:609944
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ...	OMIM:263520
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Solar Urticaria	Abnormal tongue morphology, Angioedema, Urticaria, Abnormal lip morphology, Dermatographic urticaria	ORPHA:97230
Isolated Anencephaly	Omphalocele, Cleft lip, Congenital diaphragmatic hernia	ORPHA:563609
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor...	ORPHA:264450
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Multicystic kidney dysplasia, Aganglionic megacol...	OMIM:308205
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal...	ORPHA:2167
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Opsismodysplasia	Hypoplastic vertebral bodies, Narrow chest, Short palm, Shallow orbits, Short phalanx of finger, ...	OMIM:258480
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Hypertelorism, Thick lower lip vermilion, Dental malo...	ORPHA:2563
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Pectus...	OMIM:605275
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Restrictive Dermopathy 1	Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,...	OMIM:275210
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Hypertelorism, Laryngotracheal steno...	ORPHA:1190
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad nasal tip, Micrognath...	ORPHA:1655
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Furrowed tongue	ORPHA:2743
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Hypertelorism, Atelectasis, Cleft palate, Agenesi...	ORPHA:1401
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Cleft upper lip, Hypertelorism, Cleft palate, Hypotelori...	OMIM:615465
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Hy...	OMIM:227330
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Cardiac fibroma, Abnormal sternum morphology, Odontogenic keratocysts of t...	OMIM:109400
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypopl...	OMIM:200610
Hypophosphatasia	Bowing of the long bones, Abnormality of the dentition, Abnormal rib morphology, Narrow chest, Em...	ORPHA:436
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Opt...	OMIM:620330
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Cranioectodermal Dysplasia 4	Anteverted nares, Pectus excavatum, Recurrent pneumonia, Hip dysplasia, Thin vermilion border, Ta...	OMIM:614378
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Dilation of Virchow-Robin spaces, Tapered toe, Hypertelorism, Celiac disease, Ta...	ORPHA:544488
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys...	ORPHA:2031
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contr...	OMIM:224690
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary...	ORPHA:199241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Death in infancy, Multicystic kidney dysplasia, Intestinal malrotation, Neoplasm of ...	ORPHA:2241
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:615108
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Hypoxe...	ORPHA:70587
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ...	ORPHA:353253
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arter...	OMIM:277600
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Paten...	ORPHA:444077
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,...	OMIM:269300
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Short femur, Hypertelorism, Micrognathia, Upper limb undergrowth, Cleft pala...	ORPHA:94068
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anal stenosis, Broad nasal tip, Bifid nasal tip, Hypertelorism, Anteriorly placed anus	OMIM:248450
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Bilateral camptodactyly, Oligodontia, Proptosis, Talipes equinovarus, Umbilical h...	OMIM:619234
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Geleophysic Dysplasia 1	Short palm, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Pectu...	OMIM:231050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Odontoonychodermal Dysplasia	Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac...	OMIM:257980
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Thin ribs, High palate, Neonatal death, Retrognathia	OMIM:300219
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis	ORPHA:621
8P11.2 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Hypertelorism, Patent ductus arteriosus, Anosmia, Mitral va...	ORPHA:251066
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Cog1-Cdg	Thin upper lip vermilion, Rhizomelia, Micrognathia, Hypertelorism, Coxa valga, Pierre-Robin seque...	ORPHA:263508
Mowat-Wilson Syndrome	Pectus carinatum, Deeply set eye, Widely spaced teeth, Atrial septal defect, Pulmonary artery sli...	OMIM:235730
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Downturned corners of m...	OMIM:617140
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Diastema...	OMIM:619698
Hardikar Syndrome	Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct...	OMIM:301068
Monosomy 9P	Anteverted nares, Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Congenit...	ORPHA:261112
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Sprengel anomaly	OMIM:601076
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Hypertelorism, Rib fusion, Cleft palate, Broad philtrum, Wide mouth, ...	ORPHA:1394
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Hypotelorism, Hip dysplasia, Clinodactyly of the 5th ...	ORPHA:319675
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Coxa valga, Abnormal dia...	ORPHA:85184
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Supernu...	OMIM:617088
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pneumonia, Bulbous nose, Wide nas...	OMIM:617809
Shprintzen Omphalocele Syndrome	Omphalocele, Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Narrow c...	OMIM:182210
Galloway-Mowat Syndrome 9	Hypotelorism, Hypertelorism, Hiatus hernia	OMIM:619603
Jacobsen Syndrome	Broad columella, Long hallux, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney d...	ORPHA:2308
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Hypertelorism, Complete atrioventricular canal defect, Postaxi...	OMIM:217085
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He...	OMIM:613807
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,...	OMIM:164200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora...	OMIM:615633
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Hypertelorism, Bul...	OMIM:617403
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Hypertelorism, Carious teeth, Thin clavicles,...	ORPHA:93324
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Ring Chromosome 22 Syndrome	Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Pleural effusion, Large hands, Thick vermili...	ORPHA:1446
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue...	ORPHA:1839
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Oral leukopl...	OMIM:620133
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Cyanosis, Pulmonic stenosis, Chylopericardium	ORPHA:2414
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:615109
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Aplastic clavicle, Prominent nos...	OMIM:265800
Campomelia, Cumming Type	Death in infancy, Multicystic kidney dysplasia, Bowing of the long bones, Prematurely aged appear...	ORPHA:1318
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Arterial dissection, Abnormality of the dentition, Decreased nerve conduction ve...	ORPHA:285
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Beckwith-Wiedemann Syndrome	Omphalocele, Mandibular prognathia, Inguinal hernia, Diastasis recti, Congenital diaphragmatic he...	ORPHA:116
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Deep...	OMIM:619534
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ...	OMIM:608940
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Cleft palate, Thin ribs, Slender long bone, Arthrogryposis multiplex congenita, Ret...	OMIM:618265
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Anal atresia, Hypertelorism	ORPHA:195
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Pectus excavatu...	OMIM:619525
Diamond-Blackfan Anemia 10	Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Morgagni diaphragmat...	OMIM:613309
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Micromelia, Hypertelorism, Abnormal rib morphology, Hypoplastic left h...	ORPHA:2772
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac...	ORPHA:261537
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r...	ORPHA:1145
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Patent ductus arteriosus, Clinodactyly, Cleft palate, Coarct...	ORPHA:3338
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Conical tooth, Underdeveloped nasal alae, Cleft upper lip, Ve...	OMIM:129400
X-Linked Agammaglobulinemia	Sinusitis, Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Glossoptosis, Cellulitis	ORPHA:47
Holoprosencephaly 14	Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Cyclopia, Cleft lip, Ao...	OMIM:619895
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Hypotelorism, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short dis...	ORPHA:2163
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Dentinogenesis imperfecta, Pectus carinatum, Short lower limbs	OMIM:259440
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transpositio...	ORPHA:1461
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Inguinal hernia	ORPHA:2196
Isolated Thyroid-Stimulating Hormone Deficiency	Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal ...	ORPHA:90674
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Tracheoe...	ORPHA:268249
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations	OMIM:614678
Cole-Carpenter Syndrome	Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Abnormal dental enamel ...	ORPHA:2050
Cole-Carpenter Syndrome 2	Microretrognathia, Hypertelorism, Pectus excavatum, Thin ribs, Proptosis, High palate, Narrow ili...	OMIM:616294
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Renal cyst, Deeply set eye, Oligodontia, Humeral pseudarthr...	ORPHA:2044
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Short thorax, Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydac...	ORPHA:3218
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Pectus carinatum, Coxa vara, Clinodactyly of the 5th finger, Scapular winging, Short ...	OMIM:272460
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia	ORPHA:466722
Choanal Atresia	Recurrent respiratory infections, Cyanosis, Nasal congestion, Polydactyly, Chronic sinusitis	ORPHA:137914
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Depressed nasal bridge, Broad nasal...	OMIM:619777
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Ecchymosis, Emphyse...	OMIM:130050
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Arterial tortuosity, Pectus excavatum, Micrognathia, Pat...	ORPHA:60030
Marfan Syndrome	Dental crowding, Micrognathia, High, narrow palate, Pectus carinatum, Emphysema, Arachnodactyly, ...	ORPHA:558
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Hypoxemia, Foa...	ORPHA:747
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Premature loss of primary...	ORPHA:2907
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening...	ORPHA:60025
Congenital Tricuspid Valve Dysplasia	Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp...	ORPHA:555874
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat...	OMIM:223800
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus	OMIM:616155
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Hypertelorism, Bulb...	ORPHA:1780
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Shor...	OMIM:619539
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac...	ORPHA:2152
Bazex-Dupre-Christol Syndrome	Furrowed tongue, Underdeveloped nasal alae, Narrow nasal ridge, Low hanging columella	OMIM:301845
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M...	OMIM:610682
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,...	OMIM:615948
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ...	ORPHA:2273
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Inguinal hernia, ...	OMIM:612541
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Protruding tongue, Tapered finger, High palate, Ev...	OMIM:617804
Proteus-Like Syndrome	Mandibular prognathia, Anteverted nares, Open bite, Venous insufficiency, Polycystic ovaries, Bro...	ORPHA:2969
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, Coarct...	ORPHA:1923
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, Multicystic k...	OMIM:107480
Kenny-Caffey Syndrome, Type 1	Long clavicles, Hypertelorism, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, ...	OMIM:244460
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer...	ORPHA:60015
Surfactant Metabolism Dysfunction, Pulmonary, 2	Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick...	OMIM:610913
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Orofacial cleft, Deeply set...	OMIM:607872
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulm...	OMIM:620025
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Hyp...	ORPHA:1647
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p...	ORPHA:667
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac...	ORPHA:261552
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Hiatus hernia, Pancreatic cyst...	OMIM:610199
Bladder Exstrophy	Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm...	ORPHA:93930
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Long no...	OMIM:118450
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Vertebral hypoplasia, Multicyst...	OMIM:164210
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Stomatitis, Dextrocardia, Patent ductus arteriosus, Tracheoesophageal f...	OMIM:277380
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Pectus ex...	OMIM:617168
Cloacal Exstrophy	Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, A...	ORPHA:93929
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Furrowed tongue, ...	OMIM:158350
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Depressed nasal bridge, Transient ischemic attack, Broad nasal ti...	ORPHA:1830
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Facial palsy, Shoulder flexion contracture, Achilles...	OMIM:617114
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of...	ORPHA:434179
Hereditary Hyperekplexia	Hiatus hernia, Hip dislocation, Hernia, Esophagitis, Umbilical hernia	ORPHA:3197
Culler-Jones Syndrome	Hypotelorism, Postaxial polydactyly, Cleft palate, Cleft upper lip	OMIM:615849
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Optic atrophy, Cardiomegaly	ORPHA:391428
Monosomy 22Q13.3	Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Deeply set eye, Large hand...	ORPHA:48652
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Flexion c...	ORPHA:17
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Meckel Syndrome	Encephalocele, Multicystic kidney dysplasia, Bowing of the long bones, Aplasia/Hypoplasia of the ...	ORPHA:564
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Death in childhood, Clinodactyl...	OMIM:309500
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, ...	OMIM:105650
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Patent ductus arteriosus, Optic atrophy, Gingival overgrowth, Hypo...	OMIM:230600
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Abnormal cardiac septum morphology, Tracheal ...	ORPHA:93941
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Marfan Syndrome	Bicuspid aortic valve, Dental crowding, Micrognathia, Incisional hernia, Equinus calcaneus, Flexi...	OMIM:154700
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Liver Disease, Severe Congenital	Chronic gastritis, Inguinal hernia, Depressed nasal bridge, Left atrial enlargement, Narrow nasal...	OMIM:619991
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Deeply set eye, High palate, Short ph...	ORPHA:261337
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Abnormal heart morphology, Short finger, Acrocyanosis	ORPHA:1867
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeroradial syn...	ORPHA:3404
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Dep...	ORPHA:1272
Occipital Horn Syndrome	Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Broad clavicles, Pectus excavatum,...	OMIM:304150
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Bronchiectasis, Abdominal situs inversus, Chronic r...	OMIM:618699
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Aplasia of the 3rd finger, Umbilical hernia, Triangular tibia, Talar aplasia	OMIM:619218
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis...	ORPHA:2003
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption	OMIM:152800
Hypothyroidism Due To Tsh Receptor Mutations	Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Pr...	ORPHA:90673
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Narrow chest, Hypoplasia of the ulna,...	OMIM:200980
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Prominent n...	ORPHA:3047
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Dental crowding, Broad hallux, Sandal gap, Hypertelorism, Na...	OMIM:616078
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridg...	ORPHA:1052
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Micrognathia, Hyperteloris...	ORPHA:2282
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub...	OMIM:620067
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Prolonged neonatal jaundice	ORPHA:95715
Sotos Syndrome	No permanent dentition, Flexion contracture, Atrial septal defect, Flushing, Patent ductus arteri...	ORPHA:821
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Short ri...	OMIM:173800
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow che...	ORPHA:198
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli...	OMIM:616229
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cleft palate, Broad finger, ...	ORPHA:1934
Beckwith-Wiedemann Syndrome	Omphalocele, Diastasis recti, Cardiomegaly, Renal cortical cysts, Macroglossia, Cardiomyopathy, P...	OMIM:130650
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root an...	OMIM:619910
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide mouth, Dee...	OMIM:618797
Wolcott-Rallison Syndrome	Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle, Jaundice	ORPHA:1667
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Lelis Syndrome	Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue	ORPHA:140936
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal de...	ORPHA:439
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformat...	OMIM:150230
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Recurrent upper respiratory tract infections, Asymmetric septal hypertrophy, Ever...	OMIM:252930
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism	OMIM:616937
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Lipodystrophy, Progeroid facial appearance, Unde...	ORPHA:435628
Breath-Holding Spells	Cyanosis	OMIM:607578
Xylt1-Cdg	Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Proptosis, Thick vermilion border, ...	ORPHA:370930
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Oral ulcer, Concave nasal...	OMIM:608710
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections, Depressed nasal bridge, Wide nasal bridge	ORPHA:2321
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ...	OMIM:614294
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Abnormality of the dentition, Abnormal thorax morphology, Short foot, Hip dysplasia, Tracheal ste...	OMIM:601427
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Cardiomegaly, Optic atrophy, Cleft palate, Stroke-like episo...	ORPHA:137675
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Lack of facial subcutaneous fat, Progeroid facia...	OMIM:614098
Genetic Transient Congenital Hypothyroidism	Macroglossia, Umbilical hernia, Prolonged neonatal jaundice	ORPHA:226316
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Hypertelorism, Patent ductus arteriosus, Absent pulmo...	OMIM:600460
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Vasculitis, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyano...	ORPHA:343
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Protruding tongue	OMIM:619580
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Increased connective...	ORPHA:258
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal ab...	ORPHA:436252
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acroc...	OMIM:225750
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Prog...	OMIM:123700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, De...	OMIM:105830
Kbg Syndrome	Short palm, Syndactyly, Tented upper lip vermilion, Anteverted nares, Prominent nasal bridge, Mac...	OMIM:148050
Agel Amyloidosis	Tongue atrophy, Facial palsy, Respiratory tract infection, Xerostomia, Cardiomyopathy, Bruising s...	ORPHA:85448
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Hydranencephaly	Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula...	ORPHA:2177
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Depressed nasal bridge, Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossification,...	ORPHA:226307
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue fasciculations, Tongue atrophy	OMIM:620285
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib mor...	ORPHA:2519
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, High palate, Thin ribs	ORPHA:456328
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Anomalous pulmonary veno...	ORPHA:99104
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micr...	ORPHA:83617
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Elbow contracture, Death in infancy	OMIM:620275
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Thin upper lip vermilion, Downturned corners of mouth, Short columella, Anal atresia	ORPHA:3164
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Clinodactyly, Flexion contracture, Femoral bowing, Anteriorly placed anus, C...	ORPHA:95699
Noonan Syndrome 1	Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Atrial septal defect...	OMIM:163950
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:330012
1P36 Deletion Syndrome	Depressed nasal ridge, Renal cyst, Deeply set eye, Clinodactyly of the 5th finger, Abnormality of...	ORPHA:1606
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,...	OMIM:166210
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Clubbing of toes, Right vent...	ORPHA:99106
Brown-Vialetto-Van Laere Syndrome 1	Recurrent respiratory infections, Tongue atrophy, Facial palsy, Tongue fasciculations, Death in c...	OMIM:211530
Baller-Gerold Syndrome	Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High palate, Spina b...	OMIM:218600
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Clubbing, Intraalveolar phos...	OMIM:610910
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Patent ductus arter...	ORPHA:85276
Dent Disease 2	Umbilical hernia	OMIM:300555
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ...	OMIM:250220
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia	ORPHA:3346
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Anteverted nares, Ventricular septal defect, Optic neuropathy,...	OMIM:619727
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Abnormal thorax morphology, Epiphyseal stippling, Abnormal pel...	OMIM:302960
Cryptogenic Organizing Pneumonia	Hypoxemia, Pneumothorax, Cyanosis	ORPHA:1302
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Bloom Syndrome	Syndactyly, Prominent nose, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesi...	OMIM:210900
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ...	OMIM:192350
Fraser Syndrome 3	Wide nose, Convex nasal ridge, Micrognathia, Short toe, Abnormal lung lobation, Cutaneous syndact...	OMIM:617667
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Prominent umbilicus, Mandibular prognathia, Lipodystrophy, R...	OMIM:269700
Oeis Complex	11 pairs of ribs, Omphalocele, Absence of the sacrum, Congenital hip dislocation, Intestinal malr...	OMIM:258040
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Hypertelorism, Cyst of the ductus choledo...	OMIM:619480
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Prominent umbilicus, Mandibular prognathia, Lipodystrophy, R...	OMIM:608594
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, F...	ORPHA:89842
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, High, narrow...	ORPHA:2554
Unilateral Polymicrogyria	Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Gia...	ORPHA:268943
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect, Micrognathia	OMIM:243440
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Spina bifida, Missing ribs, Cleft upper lip, Hiat...	OMIM:304050
Holoprosencephaly 1	Proboscis, Hypotelorism, Single ventricle, Aplasia of the nose, Cyclopia, Median cleft lip and pa...	OMIM:236100
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Tibial bowing, Thin ribs, Slender long bone, Dentinogenesis im...	OMIM:259420
Trichothiodystrophy 2, Photosensitive	Cutaneous photosensitivity, Agenesis of maxillary lateral incisor	OMIM:616390
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septal defect,...	OMIM:194190
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Hypertelorism, Myelomeningocele, ...	OMIM:193500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Deeply set eye,...	ORPHA:500150
Norrie Disease	Narrow nasal bridge, Venous insufficiency, Optic atrophy, Hypotelorism, Deeply set eye, Thin verm...	ORPHA:649
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic...	ORPHA:2396
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Inguinal hernia, Esophagitis, Adducted thumb	ORPHA:79351
Fucosidosis	Lipoatrophy, Abnormality of the dentition, Cardiomegaly, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Thickened cortex of long bones, Abnormal rib morphology, Retrognathia, Small han...	ORPHA:488434
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Stomatitis, Glossitis	ORPHA:79284
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Pleural ...	OMIM:617397
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Beaded ribs, Bowing of t...	ORPHA:89936
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:411511
Faciocardiomelic Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Wide mouth, Slender ...	OMIM:612731
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia, Bruising susceptibility	OMIM:614170
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Severe Congenital Nemaline Myopathy	Facial palsy, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin ...	ORPHA:171430
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Missing ribs, Cleft upper lip, Hiatus hernia,...	ORPHA:50
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Ankyloglossia, Brachydactyly	OMIM:602361
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Short tibia, Ulnar bowing, Hy...	OMIM:620076
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Hip dislocation	OMIM:149400
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Pectus carinatum, Abnormal ster...	ORPHA:2911
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatu...	ORPHA:64755
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Chronic sinusitis, Dextrocardia, Abdominal situs inversus	OMIM:619607
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Thin...	OMIM:610915
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Ectodermal dysplasia	OMIM:300291
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Gastrointestinal stro...	ORPHA:221
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Depre...	ORPHA:3003
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale, Furrowed tongue, Fibrocy...	OMIM:158310
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la...	ORPHA:881
Complete Atrioventricular Septal Defect	Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atria...	ORPHA:1329
Joubert Syndrome 1	Optic disc pallor, Anteverted nares, Protruding tongue, Postaxial hand polydactyly, Optic disc co...	OMIM:213300
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, S...	OMIM:182250
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Thickened ribs, Recurrent upper respiratory tract infections, Card...	OMIM:252920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Immunodeficiency 47	Death in infancy, Prolonged neonatal jaundice, Hypotelorism	OMIM:300972
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Scapular winging, Tongue atrophy, Optic nerve hypoplasia, De...	ORPHA:101085
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Hartnup Disease	Cutaneous photosensitivity, Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Thyroid Ectopia	Macroglossia, Jaundice, Umbilical hernia	ORPHA:95712
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Choanal atresia, Hypertelorism, Cleft lip, Anosmia, ...	OMIM:603457
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Renal cyst, Premature graying of hair, Clinodactyly of...	OMIM:113620
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Congenital hip dislocation, Depressed nasal bridge, Dental crowding, Poor wound ...	OMIM:225400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Depressed nasal bridge, Anteverted nares, Hypertelorism, Celiac disease, Recurrent uppe...	ORPHA:293987
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98794
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Poems Syndrome	Papilledema, Lipodystrophy, Pericardial effusion, Metaphyseal sclerosis, Clubbing of fingers, Ple...	ORPHA:2905
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology	ORPHA:2483
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, High palate, Foot oligod...	OMIM:276820
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Rib fusion, Death in infancy	OMIM:277300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Cyanosis, Optic neuropathy, Concentric hypertrophic cardiomy...	OMIM:252010
Primary Hyperoxaluria	Optic disc pallor, Cutis marmorata, Abnormality of the dentition, Optic atrophy, Rootless teeth, ...	ORPHA:416
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Shallow orbits, Atrial sept...	OMIM:268300
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Erythema, Atrophic scars, Smooth tongue, Enamel hypoplasia, Gene...	ORPHA:79396
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Sho...	ORPHA:93352
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Deeply set eye, Short philtrum, High palate, Antevert...	OMIM:619475
Exstrophy-Epispadias Complex	Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Cystocele, Abnormality of the abdomina...	ORPHA:322
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida	OMIM:207950
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:608681
Acrodermatitis Enteropathica	Malabsorption, Erythema, Cheilitis, Abnormality of the tongue, Furrowed tongue, Generalized abnor...	ORPHA:37
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Cutis marmorata, Cardiomegaly, Calcification of the aor...	ORPHA:51
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Tris...	ORPHA:3206
Tetraamelia Syndrome 1	Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Single naris, Pe...	OMIM:273395
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology, Cleft palate	OMIM:118100
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp...	OMIM:252600
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis	ORPHA:2004
Lethal Congenital Contracture Syndrome 5	Death in infancy, Decreased nerve conduction velocity, Flexion contracture, Subdural hemorrhage, ...	OMIM:615368
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Missing ribs, Hypertelorism, Rib fusion, Thin ribs, Short ribs, Pulmonary hypopl...	OMIM:271520
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mi...	ORPHA:99103
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Dilated cardiomyopathy, Optic atrophy, Subdural hemorrhage, Abnormal heart morphology, ...	ORPHA:79282
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Depressed nasal br...	OMIM:618019
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Protruding tongue, Pectus excavatum, Micrognathia, Flexion contracture, Facial d...	ORPHA:98889
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Hereditary Folate Malabsorption	Recurrent respiratory infections, Glossitis, Cheilitis	ORPHA:90045
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Glomuvenous Malformation	Abnormality of the nasal cavity, Oral mucosa nodule, Gastrointestinal arteriovenous malformation,...	ORPHA:83454
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Psoriasis 14, Pustular	Erythema, Geographic tongue, Furrowed tongue	OMIM:614204
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormal hip joint morphology, Medial calcification of large arteries, T...	ORPHA:51608
Eisenmenger Syndrome	Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonary window, A...	ORPHA:97214
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Facial palsy, Pulmonary edema	ORPHA:31826
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Orthostatic hypotension, Acrocyanosis, Hypogeusia	OMIM:223900
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Angelman Syndrome	Mandibular prognathia, Optic disc pallor, Protruding tongue, Optic atrophy, Wide mouth, Widely sp...	ORPHA:72
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Sepsis In Premature Infants	Cyanosis, Jaundice, Enterocolitis, Petechiae, Purpura	ORPHA:90051
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Microsporidiosis	Sinusitis, Pneumonia, Bronchitis, Myocarditis, Endocarditis, Rhinitis, Bronchiolitis, Glossitis	ORPHA:2552
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Cyanosis	ORPHA:159
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi...	OMIM:309800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Furrowed tongue, Microdont...	OMIM:148210
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral ...	ORPHA:48435
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Tongue atrophy, Optic atrophy, Hammertoe, Hip dysplasi...	ORPHA:99949
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Optic atrophy	OMIM:261680
Eosinophilic Fasciitis	Fasciitis, Acrocyanosis, Cellulitis	ORPHA:3165
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar...	OMIM:175050
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition, Cranial nerve compr...	ORPHA:2785
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, Carious teet...	ORPHA:79408
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Gingival overgrowth, Protruding tongue	OMIM:620352
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Broad ribs, Pulmonary fibrosis, Flaring of rib cage	OMIM:612852
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal defect...	ORPHA:857
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta	OMIM:184400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy, Decreased distal sensory nerve action potential, ...	ORPHA:99956
Cowden Syndrome	Brachydactyly, Pectus excavatum, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous poly...	ORPHA:201
Carney Complex	Ovarian dermoid cyst, Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Cardia...	ORPHA:1359
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphology, Neoplasm ...	ORPHA:653
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Miscarriage, Thin ribs	ORPHA:169189
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa...	OMIM:618395
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Umbilical hernia	OMIM:218700
Microphthalmia, Syndromic 3	Optic nerve aplasia, Ventricular septal defect, Optic nerve hypoplasia, Missing ribs, Esophageal ...	OMIM:206900
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Familial Dysautonomia	Recurrent respiratory infections, Orthostatic hypotension, Abnormal pleura morphology, Optic atro...	ORPHA:1764
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology	ORPHA:2234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Tongue atrophy, Decreased distal senso...	ORPHA:466768
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Hyperoxaluria, Primary, Type I	Cutis marmorata, Optic neuropathy, Peripheral arterial stenosis, Optic atrophy, Acrocyanosis	OMIM:259900
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric...	OMIM:615996
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Recurrent lower respiratory tract infections, Cyanosis, Death in childhood	OMIM:618426
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Optic atrophy, Pro...	OMIM:612301
Coccidioidomycosis	Pericarditis, Pneumonia, Vasculitis, Atypical scarring of skin, Abnormal long bone morphology, Pa...	ORPHA:228123
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Milroy Disease	Varicose veins, Abnormal venous morphology, Cellulitis	ORPHA:79452
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Lipoatrophy, Abnormal cerebral vascular morphology, Macrodactyly, 2-4...	ORPHA:276280
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Meconium ileus, Knee flexion contracture	OMIM:617239
Glucagonoma	Intestinal obstruction, Necrolytic migratory erythema, Intermittent jaundice, Steatorrhea, Stomat...	ORPHA:97280
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Micrognathia, Cleft palate, High palate, Sh...	OMIM:607932
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Pendred Syndrome	Tracheal stenosis	ORPHA:705
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Igg4-Related Thyroid Disease	Tracheal stenosis, Sialadenitis	ORPHA:64744
Plague	Chapped lip, Enterocolitis, Endocarditis, Acute infectious pneumonia, Inflammation of the large i...	ORPHA:707
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu...	OMIM:233450
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy	OMIM:614688
Choreoacanthocytosis	Temporomandibular joint crepitus, Protruding tongue, Dilated cardiomyopathy, Abnormal autonomic n...	ORPHA:2388
Bardet-Biedl Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Prominent nasal bridge, Postaxial hand polydactyly	ORPHA:110

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ift27

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ift27.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development.	Mechanisms of development (April 2018)	Ift27^{tm1c(EUCOMM)Hmgu} Ift27^{tm1a(EUCOMM)Hmgu} Ift27^{tm1b(EUCOMM)Hmgu}	29626631
Intraflagellar transporter protein (IFT27), an IFT25 binding partner, is essential for male fertility and spermiogenesis in mice.	Developmental biology (September 2017)	Ift27^{tm1c(EUCOMM)Hmgu}	PMC5694392
Intraflagellar transport 27 is essential for hedgehog signaling but dispensable for ciliogenesis during hair follicle morphogenesis.	Development (Cambridge, England) (May 2015)	Ift27^{tm1a(EUCOMM)Hmgu}	PMC4483764
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea.	Development (Cambridge, England) (February 2015)	Ift27^{tm1a(EUCOMM)Hmgu}	PMC4302998
IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.	Developmental cell (October 2014)	Ift27^{tm1c(EUCOMM)Hmgu} Ift27^{tm1a(EUCOMM)Hmgu} Ift27^{tm1d(EUCOMM)Hmgu} Ift27^{tm1b(EUCOMM)Hmgu}	PMC4254547

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ift27^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ift27^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ift27^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ift27^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ift27^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Ift27^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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