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Gene: Tmem107 MGI:1914160

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transmembrane protein 107

Synonyms:

2810049P21Rik, 1110004B13Rik

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 Tmem107 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 Tmem107 (3 diseases)
Human diseases predicted to be associated with Tmem107 (2202 diseases)

The table below shows human diseases associated to Tmem107 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meckel Syndrome	Anophthalmia, Micrognathia, Depressed nasal ridge, Dandy-Walker malformation, Encephalocele, Abno...	ORPHA:564
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:617563
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Flexion contracture, Cerebellar hypoplasia, Retinopathy	OMIM:617562

The table below shows human diseases predicted to be associated to Tmem107 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Anteverted nares, Optic...	OMIM:615583
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Coloboma, Pectoral muscle hy...	OMIM:136760
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, Microce...	ORPHA:217340
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Recurrent fra...	ORPHA:83
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ...	ORPHA:560
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Arachnodactyly, Prominent nasal bridge, Limited elbow movement, Microcephaly, Abnor...	ORPHA:319171
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Turricephaly, Brachydactyly, Wide nasal bridge, Symphal...	ORPHA:710
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal b...	OMIM:615524
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of...	ORPHA:861
Dysostosis, Stanescu Type	Micromelia, Hypoplasia of the maxilla, Brachycephaly, Increased bone mineral density, Abnormal de...	ORPHA:1798
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteriorly placed anus, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Cryptorchidis...	ORPHA:1555
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis,...	OMIM:311895
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil...	ORPHA:245
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Brachycephal...	ORPHA:1695
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Micr...	OMIM:222765
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Anteverted nares, Depressed nasal ridge...	ORPHA:2412
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cerebrooculonasal Syndrome	Anophthalmia, Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High pala...	OMIM:605627
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li...	ORPHA:3080
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, Joint hypermobility, H...	OMIM:607597
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cl...	OMIM:612938
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Microretrognathia, Preauricular pit, Finger syndactyly, Brachydactyly, Abnormali...	ORPHA:1786
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of...	ORPHA:1812
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Choanal stenosis, Ne...	OMIM:259775
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Joint laxity, Thin upper lip vermilion, Frontal bossing, Long toe, Depressed nasal bridge, Optic ...	ORPHA:363686
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Camptodactyly of finger, Underdeveloped nasal alae, Long nose, H...	ORPHA:1968
Zechi-Ceide Syndrome	Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, ...	OMIM:612916
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Holoprosencephaly	Flat occiput, Anophthalmia, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly...	ORPHA:2162
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Depressed na...	OMIM:613885
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate...	OMIM:612513
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Wide nose, Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Cl...	ORPHA:3074
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Abnormal bone ossification...	ORPHA:163649
Aarskog-Scott Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac...	ORPHA:915
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Abnormal midface morphology, Cleft upper lip, Diastema, Ab...	ORPHA:401942
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cubitus valgus, Cryptorchidism, Wide nasal bridge, Genu valgum, Joint hype...	ORPHA:1778
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint...	ORPHA:93932
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa...	OMIM:610828
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the...	ORPHA:1295
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorch...	ORPHA:85284
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Mi...	OMIM:241800
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Limited ...	OMIM:265050
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Peripheral axonal neuropathy, Tented upper lip vermilion, Protruding tongue, M...	OMIM:618580
Toluene Embryopathy	Micrognathia, Microcephaly, Cryptorchidism, Tapered finger, Thin vermilion border, Hypoplasia of ...	ORPHA:1920
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Dolic...	ORPHA:357001
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Micrognathia, Microcephaly, Optic atrophy, Wide nasal bridge, Cerebellar ...	ORPHA:163937
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Overlapping toe, Postaxial polydactyly, Micrognathia, Microcephaly, Preax...	OMIM:618142
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palat...	ORPHA:2189
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic di...	ORPHA:1790
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Protruding...	OMIM:610253
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, M...	OMIM:613603
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Microcephaly, Deep philtrum, Per...	ORPHA:77300
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Distal Monosomy 7Q36	Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Non-midline cleft lip, Optic atrophy, C...	ORPHA:1636
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Agenesis of corpus callosum, Cerebe...	OMIM:616570
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely...	ORPHA:363417
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Pr...	OMIM:243605
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Joint stiffness, Metatarsus valgus, Radial deviation of th...	ORPHA:1388
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Broad nasal tip, Microcephal...	OMIM:618106
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Joint hypermobility, Single transverse palmar crea...	OMIM:617804
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, ...	ORPHA:261120
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Cloverleaf skull, Depressed nasal bridge, D...	OMIM:101600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
Stickler Syndrome Type 1	Retinal detachment, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor morphology...	ORPHA:90653
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Brachycephaly, Diastema, Gingival...	OMIM:212066
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Broad nasal tip, Micrognathia,...	OMIM:620157
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin...	OMIM:602535
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, ...	OMIM:164180
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip, Micrognathia,...	OMIM:300749
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Branchial anomaly, Hypoplasia...	ORPHA:1131
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydact...	ORPHA:294975
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the nose, Abnormality of the dentition,...	ORPHA:1794
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae, Micrognathia, Wh...	OMIM:277720
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,...	OMIM:300577
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a...	ORPHA:207
Basal Cell Nevus Syndrome 1	Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft...	OMIM:109400
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, M...	ORPHA:776
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Anteverted nares, Dental crowding, Narrow nasal ridge...	OMIM:620370
Anencephaly 2	Median cleft lip, Anophthalmia, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Depressed nasal bridge, Rhizomelia, Micrognathia, Microcephaly, Wide anterior font...	ORPHA:3098
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Osteopo...	OMIM:156510
Down Syndrome	Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger...	ORPHA:870
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Microcephaly, Wide anterior fontanel, Hydrocephalus...	OMIM:614886
Pierpont Syndrome	Brachycephaly, Abnormal peripheral nervous system morphology, Widely spaced teeth, Short palm, Pr...	OMIM:602342
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingi...	ORPHA:1832
Atelosteogenesis, Type Iii	Frontal bossing, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micrognathia, Hyp...	OMIM:108721
Acromelic Frontonasal Dysostosis	Preaxial polydactyly, Brachycephaly, Patellar hypoplasia, Short tibia, Agenesis of corpus callosu...	OMIM:603671
Distal Deletion 10P	Micrognathia, Joint stiffness, Microcephaly, Non-midline cleft lip, Cryptorchidism, Abnormality o...	ORPHA:1580
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Prominent nasal bridge, Single transverse palmar crease, ...	OMIM:613544
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Ta...	OMIM:218000
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Cryptor...	ORPHA:85279
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Ove...	OMIM:300963
9q subtelomeric deletion syndrome	Anteverted nares, Microcephaly, Protruding tongue, Short nose, Midface retrusion	DECIPHER:52
Cardiofaciocutaneous Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormal morphology of ulna, Cryptorch...	ORPHA:1340
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft...	ORPHA:2117
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Calvarial osteosclerosis, Anteverted na...	OMIM:616331
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen...	ORPHA:1406
Cofs Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia, Abnormal nasal morpho...	ORPHA:1466
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Abnormality of the hand, Mi...	ORPHA:1387
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnorma...	ORPHA:324410
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Single naris, S...	OMIM:610829
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Microcephaly, Cryptorchidism, Orofacial cleft, Split foo...	ORPHA:3434
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern...	ORPHA:63260
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na...	OMIM:619736
2P15P16.1 Microdeletion Syndrome	Brachycephaly, High palate, Bilateral single transverse palmar creases, Facial palsy, Tapered fin...	ORPHA:261349
Trisomy 1Q	Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Depressed nasal bridge, Camptodactyl...	ORPHA:261344
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, ...	OMIM:616364
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Malabsorption, Protruding tongue, Micrognath...	OMIM:242860
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Toe syndactyly, Short ph...	ORPHA:228384
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Scapular winging,...	ORPHA:1327
Temtamy Syndrome	Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Thick lower lip vermilion, Aplasia/Hy...	ORPHA:1777
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl...	ORPHA:1104
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Antevert...	OMIM:301040
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephal...	ORPHA:950
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Hydrocephalus, Clin...	OMIM:618577
Phenobarbital Embryopathy	Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholog...	ORPHA:1919
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Ul...	OMIM:214100
Ring Chromosome 22 Syndrome	Protruding tongue, Microcephaly, Bulbous nose, Neurofibroma, 2-3 toe syndactyly, Full cheeks, Azo...	ORPHA:1446
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Joint stiffness, Cryptorchidism, Non-midline cleft lip, My...	ORPHA:1752
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Midface retrusion, Anteverted nares, Cleft upper lip, Microcephaly, Cry...	OMIM:243310
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal b...	OMIM:614078
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle...	OMIM:601349
Autosomal Recessive Distal Osteolysis Syndrome	Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Midface ret...	ORPHA:2776
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Broad hallux, Gingiv...	OMIM:618529
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Single transverse palmar crease, Mic...	OMIM:613604
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Lar...	ORPHA:85287
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Microcephaly, Cryptorchidism, Postaxi...	ORPHA:1702
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of...	ORPHA:1110
Frontorhiny	Encephalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Preauricular skin tag, Hypopla...	ORPHA:391474
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Joint stiffness, Microcephaly, Non-midl...	ORPHA:1915
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Short philtrum, C...	ORPHA:819
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion bor...	OMIM:617991
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a...	ORPHA:93262
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdeveloped n...	OMIM:608572
16Q24.3 Microdeletion Syndrome	Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Proximal placement of thumb, Micrognat...	ORPHA:261250
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr...	OMIM:617201
Prolidase Deficiency	Abnormality of retinal pigmentation, Depressed nasal bridge, Arachnodactyly, Micrognathia, Cariou...	ORPHA:742
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep...	OMIM:618381
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Broad hallux phalanx, Toe syndactyly, Hypop...	ORPHA:1540
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Brachyce...	ORPHA:2145
Distal Duplication 18Q	Abnormal dental morphology, Choanal atresia, Anteverted nares, Prominent nasal bridge, Carious te...	ORPHA:1716
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic...	ORPHA:141152
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo...	ORPHA:352665
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Abnormal midface...	ORPHA:83451
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Bilateral microphthalm...	ORPHA:2563
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Anteverted nares, Rocker bottom foot, Microcephaly, Wide mouth, Delayed ...	OMIM:618506
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Narrow nasal bridge, Mandibular prognathia, Brachydactyly, Flat occiput, Microcephaly, Abnormal t...	ORPHA:2511
Trisomy 13	Preauricular pit, Median cleft lip, Anophthalmia, Abnormality of the dentition, Abnormal retinal ...	ORPHA:3378
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, High palate, Narrow mouth, Microphthalmia, Retrognathia	ORPHA:2528
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Brachycepha...	OMIM:618828
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Optic atrophy, Progressive mic...	OMIM:618737
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Preauricular skin tag, N...	ORPHA:1791
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, ...	ORPHA:1895
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Joint laxity, Prominent fingertip pads, Wide nasal rid...	ORPHA:487825
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Brachycephaly, Absent nasal bridge, Narrow greater sciatic no...	OMIM:617925
Mosaic Trisomy 14	Frontal bossing, Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Micrognathia,...	ORPHA:1703
Cleidorhizomelic Syndrome	Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl...	ORPHA:1453
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Anteverted nares, Depressed nasal ...	ORPHA:50945
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Turricephaly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto...	ORPHA:171839
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced tee...	ORPHA:369891
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Micrognathia, Microcephaly, Cryp...	OMIM:600118
Orofaciodigital Syndrome Xvii	Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Ce...	OMIM:617926
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi...	ORPHA:468631
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Mic...	OMIM:311900
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preauricular skin tag, Preaxial...	ORPHA:79113
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl...	OMIM:617866
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Doli...	OMIM:617752
Cohen Syndrome	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Single transverse palmar crease,...	OMIM:216550
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, Chorioretinal co...	ORPHA:138
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th...	ORPHA:93267
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microme...	ORPHA:1908
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Full ch...	OMIM:617616
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Long philtru...	OMIM:613792
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morphology, Prominent oc...	ORPHA:556955
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Optic atrophy,...	OMIM:614800
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares,...	OMIM:304050
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Full ...	ORPHA:261295
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid...	OMIM:618622
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Sandal gap, Malar prominence, Abnorma...	ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Tarsal synostosis, Ab...	ORPHA:1307
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Widely spaced teeth, High palate, Short philtrum, Holo...	OMIM:612530
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solita...	ORPHA:66625
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Peho-Like Syndrome	Tapered finger, Optic atrophy, Full cheeks, Progressive microcephaly, Hypoplasia of the corpus ca...	OMIM:617507
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Microphthalmia, Brachycephaly, Orofacial cleft, Midli...	OMIM:229400
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Cryptorchidism, Short nose, Wide nasal bridg...	ORPHA:2849
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Micrognathia, Prominent nose, Microcephaly, High palate, Broad thumb, ...	OMIM:620194
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pi...	ORPHA:50
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Micrognathia, High palate, Long philtrum, Short nose	ORPHA:2598
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Frontal bossing, Hyperextensibility of the finger ...	OMIM:309520
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Optic atrophy, Congenital contracture, High palate, Secon...	OMIM:615042
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Optic nerve hypoplasia, Craniosynostosis, Microcephaly, Rocker bottom foot, ...	OMIM:301056
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Broad nasal tip, Thi...	ORPHA:137634
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of...	OMIM:257850
Omodysplasia 2	Frontal bossing, Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cle...	OMIM:164745
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Optic atrophy, Hypoplasia of the corpus call...	ORPHA:1495
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Brachycephaly, Oligodontia, High palate, Clinodactyly of the 5th f...	ORPHA:251019
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb, 2-3 toe syn...	ORPHA:2712
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Treacher Collins Syndrome 2	Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Cleft palate, Fusion of middl...	OMIM:613717
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Microcephaly, Lobar holoprosencephaly, Prominent occiput, Hypoplasia of t...	OMIM:618500
Trisomy 4P	Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, C...	ORPHA:1738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Hypoplasia of the brains...	OMIM:236670
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Broad hallux, Protru...	OMIM:617062
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia,...	OMIM:614744
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Cran...	OMIM:601853
Trisomy 12P	Turricephaly, Micrognathia, Wide nasal bridge, Cleft palate, Full cheeks, Downturned corners of m...	ORPHA:1699
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, High palate	OMIM:300676
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ag...	ORPHA:87
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Protruding tongue, Micrognathia, Primary microcephaly, Cerebral atrophy, Progressive m...	OMIM:608779
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, B...	OMIM:300958
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep...	OMIM:612289
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Mic...	ORPHA:1234
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Bifid uvula, Anteverted ...	ORPHA:404440
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p...	OMIM:212720
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Peripheral axonal neuropathy, Optic nerve hypoplasia, Micrognathia, Crypto...	ORPHA:496790
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clin...	OMIM:619981
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Generalized joint laxity, Coloboma, Abnormal optic disc morp...	ORPHA:508498
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Frontal bossing, Exaggerated cupid's bow, Depressed nasal bridge, Single transverse...	OMIM:620098
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Aplasia/Hypoplasia of the cerebellum...	ORPHA:192
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Micrognathia, Malabsorption, Protruding tong...	ORPHA:2268
X-Linked Intellectual Disability, Abidi Type	Prominent nasal bridge, Microcephaly, Non-midline cleft lip, Cleft palate, Decreased testicular size	ORPHA:85273
Lowry-Maclean Syndrome	Delayed eruption of teeth, Preauricular pit, Craniosynostosis, Microcephaly, Cleft palate, Convex...	OMIM:600252
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc...	ORPHA:2780
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, B...	OMIM:618797
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Abnormal optic nerve morphology, ...	OMIM:605039
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Agenesi...	OMIM:277170
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc...	OMIM:301043
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft upper lip, Micrognathia, Microcephaly, 2-3 toe syndactyly, Cleft palate, S...	OMIM:239800
Triploidy	Finger syndactyly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline cleft lip, H...	ORPHA:3376
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, Hypoplasia of the brainstem, High palate, Lower li...	OMIM:157900
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, O...	ORPHA:1252
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi...	OMIM:200600
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow...	ORPHA:2662
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Palmoplantar c...	OMIM:268850
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Brachydactyly-Preaxial Hallux Varus Syndrome	Frontal bossing, Short metacarpal, Micrognathia, Radial club hand, Preaxial hand polydactyly, Sho...	ORPHA:1278
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten...	OMIM:241310
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose	OMIM:613670
Stickler Syndrome, Type Ii	Retinal detachment, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, High,...	OMIM:604841
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Flat occiput, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, M...	ORPHA:300570
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Optic atrophy, Cleft palate, C...	OMIM:614261
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda...	OMIM:300484
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Prominent nose, Mi...	OMIM:305450
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Anteverted nares, Protruding tongue, Microcephaly, Cryptorchidism, Brachycephaly, D...	ORPHA:96147
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Dental crowding, Anteverted nares, Sandal gap, Short toe, P...	OMIM:617877
Sandestig-Stefanova Syndrome	Rocker bottom foot, Clinodactyly, Wide nasal bridge, Orofacial cleft, High palate, Hypoplasia of ...	OMIM:618804
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Microcephaly, Wide nasal bridge, Gingival overgrowth, ...	OMIM:619179
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Clinodactyly of the 5th ...	OMIM:612582
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Clinodactyly of the 5th finger, Bi...	ORPHA:794
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Frontal bossing, Depressed nasal bridge, Optic nerve hyp...	OMIM:620029
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, ...	ORPHA:2166
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Optic nerve hypoplasia, S...	OMIM:615879
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly, Aplasia/Hypoplasia of the cerebellum, Clinodac...	ORPHA:2710
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Broad nasal tip, Micrognathia,...	OMIM:620155
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Flat occiput, Anteverted nares, Microcephaly, Brachycephaly, Long philt...	ORPHA:46
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal bridge, Overlapping toe, Protruding ...	ORPHA:99843
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Facial Clefting, Oblique, 1	Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia	OMIM:600251
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Broad nasal ti...	OMIM:300602
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Small ha...	ORPHA:1787
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Abnormal ...	ORPHA:884
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Anteverted nares, Fractured radius, Micrognathia, Multiple prenatal frac...	OMIM:616897
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Holoprosencephaly 2	Aplasia of the nasal bone, Alobar holoprosencephaly, Holoprosencephaly, Chorioretinal coloboma, A...	OMIM:157170
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Overlapping toe, Dolichocephaly, Cleft lip, Deep philtrum, Bu...	OMIM:618571
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B...	OMIM:619148
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Mic...	ORPHA:166272
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ...	OMIM:615419
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Pierre-Robin ...	OMIM:184840
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Pycnodysostosis	Obtuse angle of mandible, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Generalized os...	ORPHA:763
Joubert Syndrome 1	Optic disc pallor, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis,...	OMIM:213300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, Decreased nerve co...	OMIM:618356
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa...	ORPHA:435638
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndac...	OMIM:614701
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Optic atrophy, Wide nasal bridge, Cleft...	OMIM:201180
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Prominent nose, Micrognathia, Flexion contracture, Knee flexion contrac...	OMIM:214150
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Preauricular skin ...	ORPHA:306542
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Chromosome 22Q11.2 Duplication Syndrome	Microcephaly, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, High palate	OMIM:608363
Mulibrey Nanism	Frontal bossing, Wide nose, Dental crowding, Depressed nasal bridge, Single transverse palmar cre...	OMIM:253250
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Anteverted nares, Depres...	OMIM:608156
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Microcephaly, Tapered finger, High, narrow palate, Short toe, Submucous ...	ORPHA:3201
Trisomy 18	Holoprosencephaly, Iris coloboma, Bilateral single transverse palmar creases, Microretrognathia, ...	ORPHA:3380
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microcephaly, Wide nasal bridge, Cleft...	ORPHA:251056
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnormally ossified vertebrae, Micr...	ORPHA:3301
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydro...	ORPHA:1914
Monosomy 18P	Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Brachycephaly, Downtu...	ORPHA:1598
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Brachycephaly, Downturned corners of mouth, High palat...	OMIM:300882
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Wid...	ORPHA:411511
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,...	ORPHA:90650
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Cleft palate, Orofacial clef...	ORPHA:1988
Squalene Synthase Deficiency	Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Bilateral cryptorchidism, Elbow fle...	OMIM:618156
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Joint hypermobility, Arachnodactyly, Broad hallux, Hypoplasia of the maxilla, B...	ORPHA:481152
Donnai-Barrow Syndrome	Intestinal malrotation, Wide anterior fontanel, Hypoplasia of the iris, Short sternum, Umbilical ...	OMIM:222448
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Microcephaly, Preaxial han...	OMIM:606242
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, Congenital hip dislocation, High palate, Hypoplasia of the corpus cal...	ORPHA:217385
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Achondrogenesis	Frontal bossing, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Ab...	ORPHA:932
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Calcaneal epiphyseal stippling, Broad nasal tip, H...	ORPHA:79345
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Hamart...	OMIM:311200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, ...	ORPHA:163966
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Zaki Syndrome	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Toe syndactyly, Micrognathia, Microcep...	OMIM:619648
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, ...	OMIM:619833
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Cessati...	ORPHA:98794
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Limited elbow movement, Micro...	OMIM:300590
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Abnormal midface morphology, Cryptorchidism, Microphthalmia, Submucous cleft hard p...	ORPHA:2250
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Olivopontocerebellar hypopla...	ORPHA:370959
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Carious teeth, Hyp...	ORPHA:50814
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypo...	ORPHA:782
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang...	ORPHA:59315
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognat...	OMIM:300534
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, Hypoplasia of the brainstem, Hi...	OMIM:193700
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Protruding t...	OMIM:619777
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Depressed nasal bridge, ...	OMIM:215100
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Downturned corners of mouth, ...	OMIM:601808
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing,...	ORPHA:251028
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Seckel Syndrome 2	Micrognathia, Prominent nose, Microcephaly, Cerebellar hypoplasia, Clinodactyly of the 5th finger...	OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, High...	OMIM:620330
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Limitation of joint...	ORPHA:376
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont...	OMIM:157980
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,...	OMIM:618388
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S...	ORPHA:2872
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Tooth agenes...	OMIM:147950
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Frontal bossing, Vertebral fusion, Dental crowding, Optic atrop...	ORPHA:313892
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Bowing of t...	OMIM:614815
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Cleft upper lip, Flexion contracture, Depressed nasal ridge, Clef...	OMIM:312150
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Choanal atresia, Proboscis, Optic nerve hypoplas...	ORPHA:141099
Achondrogenesis Type 1A	Short palm, Frontal bossing, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abn...	ORPHA:93299
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metacarpal morphology, Reduced bone mineral density, Abnormal pelvic girdle bone morphol...	ORPHA:2370
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Prominent nose, Bro...	OMIM:300280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced tee...	ORPHA:98795
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Prominent nasal bridge, ...	OMIM:614424
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Pai Syndrome	Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Aplasia/H...	ORPHA:1993
Achondrogenesis Type 1B	Frontal bossing, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Sh...	ORPHA:93298
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Turnpenny-Fry Syndrome	Dental crowding, Prominent interphalangeal joints, Downturned corners of mouth, Pectus carinatum,...	OMIM:618371
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Dislocate...	OMIM:182212
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Hydroceph...	ORPHA:2635
Parastremmatic Dwarfism	Bowing of the long bones, Flexion contracture, Genu valgum	OMIM:168400
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Genitopalatocardiac Syndrome	Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Hydrocephalus, Postaxial hand ...	ORPHA:2075
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Dolichocephaly, Hypoplasia of the m...	ORPHA:1101
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx...	ORPHA:93259
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia...	OMIM:615761
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Wide mouth, Progr...	OMIM:300953
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brach...	ORPHA:1784
Ring Chromosome 8 Syndrome	Frontal bossing, Anteverted nares, Deviation of finger, Short nose, Abnormal palate morphology	ORPHA:1450
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Pallister-Hall Syndrome	Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly...	OMIM:146510
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Clinodactyly, Widely-spaced maxillary central incisors,...	OMIM:309580
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Cubitus valgus, ...	OMIM:619694
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Microcephaly, Bilateral triphalangea...	OMIM:619356
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Short philtrum, Cerebral cortical at...	OMIM:617864
Meckel Syndrome	Anophthalmia, Micrognathia, Depressed nasal ridge, Dandy-Walker malformation, Encephalocele, Abno...	ORPHA:564
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Cle...	OMIM:213980
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Micrognathia, Prominent nose, Hypoplasia of the pons, Partial...	OMIM:616171
Kapur-Toriello Syndrome	Overlapping fingers, Bilateral single transverse palmar creases, Intestinal malrotation, Camptoda...	OMIM:244300
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros...	OMIM:300373
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Broad na...	OMIM:258865
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Dental crowding, Arachnodactyly, Narrow mouth, Brachycephaly, Cere...	OMIM:615539
Zimmermann-Laband Syndrome 3	Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Long hallux, Thick lower lip vermi...	OMIM:618658
Marden-Walker Syndrome	Micrognathia, High, narrow palate, Congenital contracture, Hypoplasia of the brainstem, High pala...	OMIM:248700
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Tetrasomy 5P	Preauricular pit, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Wide anterior fo...	ORPHA:3309
Acromicric Dysplasia	Short palm, Short metacarpal, Anteverted nares, Joint stiffness, Decreased nerve conduction veloc...	ORPHA:969
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short...	ORPHA:2751
Scarf Syndrome	Craniosynostosis, Cryptorchidism, Pectus carinatum, Joint hyperflexibility, Short sternum, Long p...	ORPHA:3134
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, High palate, Short nose, Midfa...	ORPHA:1913
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi...	OMIM:615065
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangi...	ORPHA:2547
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph...	OMIM:618761
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Joint hypermobility, Cario...	OMIM:617602
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef...	ORPHA:261236
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Wide nasal b...	OMIM:106260
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Postaxial polydactyl...	OMIM:619142
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, ...	OMIM:616920
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Microcephaly	OMIM:618302
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, Micrognat...	OMIM:619941
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Preauricular skin tag, Frontal encephalocele, Cerebella...	OMIM:218670
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, ...	OMIM:300558
Hemifacial Microsomia With Radial Defects	Preauricular pit, Preauricular skin tag, Non-midline cleft lip, Cleft palate, Orofacial cleft, Tr...	OMIM:141400
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Prominent occiput,...	OMIM:619122
Trisomy 9P	Brachydactyly, Dental crowding, Microcephaly, Abnormal nasal morphology, Non-midline cleft lip, B...	ORPHA:236
Intellectual Developmental Disorder, Autosomal Dominant 26	Anteverted nares, Depressed nasal bridge, Decreased palmar creases, Micrognathia, Microcephaly, D...	OMIM:615834
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Optic atrophy, Dental malocclu...	ORPHA:329178
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Congenital hip dislocation, Anteverted nares, Microcephaly, Carious teeth, Narro...	OMIM:219200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Convex nasal ridge...	OMIM:241410
Trigonocephaly 1	Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Trigonocep...	OMIM:190440
Temple Syndrome	Decreased testicular size, Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, ...	OMIM:616222
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Warburg Micro Syndrome 3	Decreased testicular size, Micrognathia, Microcephaly, Flexion contracture, Optic atrophy, Brachy...	OMIM:614222
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Microcephaly, Micromelia, Humeror...	OMIM:251230
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pe...	ORPHA:2886
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Limitation of join...	ORPHA:2077
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Secondary microc...	OMIM:613192
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Hydroc...	ORPHA:2701
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Thick verm...	OMIM:620113
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Autosomal Recessive Omodysplasia	Frontal bossing, Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Cra...	ORPHA:93329
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Atelosteogenesis, Type Ii	Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around...	OMIM:256050
Ring Chromosome 10 Syndrome	Frontal bossing, Aganglionic megacolon, Sandal gap, Micrognathia, Tapered finger, Wide nasal brid...	ORPHA:1438
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Anteri...	OMIM:211380
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t...	ORPHA:485405
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, M...	ORPHA:293939
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal tip, Full cheeks, ...	ORPHA:293725
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ...	OMIM:268310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Thick nasal alae, Agenesis of cerebellar vermis, M...	ORPHA:163961
Craniofrontonasal Dysplasia	Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge...	ORPHA:1520
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Postauricu...	ORPHA:217017
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oligodactyly, Triphalang...	OMIM:154400
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morphology, Abnormal ri...	ORPHA:2097
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Abnormal calvaria morphology, Median cleft palate	ORPHA:2432
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Larsen-Like Syndrome	Joint laxity, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft ...	OMIM:608545
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single tra...	OMIM:614105
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Lissencephaly Due To Tuba1A Mutation	Microretrognathia, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, M...	ORPHA:171680
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Broad hallux, Postaxial hand polydactyly, Duplica...	OMIM:617127
3C Syndrome	Micrognathia, High, narrow palate, Orofacial cleft, Chorioretinal coloboma, Aplasia/Hypoplasia of...	ORPHA:7
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Frontal bossing, Anteverted nares, Cer...	OMIM:300000
Diprosopus	Abnormality of retinal pigmentation, Abnormality of the nose, Non-midline cleft lip, Anencephaly,...	ORPHA:1681
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Microcephaly, Esoph...	OMIM:610536
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Anteverted nares, Depressed nasal bridge, Overlapping toe, Micrognathia, Hyd...	OMIM:617822
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma...	ORPHA:508488
Stickler Syndrome, Type I	Retinal detachment, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, Joint...	OMIM:108300
Potocki-Shaffer Syndrome	Turricephaly, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped na...	OMIM:601224
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal...	OMIM:129400
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Synostosis of carpal bones, H...	ORPHA:3258
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Microcephaly, Crypt...	ORPHA:899
Branchio-Oculo-Facial Syndrome	Preauricular pit, Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft li...	ORPHA:1297
Potocki-Shaffer Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Parietal forami...	ORPHA:52022
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microgna...	OMIM:600325
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou...	OMIM:225060
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis...	ORPHA:2003
Teebi Hypertelorism Syndrome 1	Preauricular pit, Thin upper lip vermilion, Natal tooth, Frontal bossing, Anteverted nares, Denta...	OMIM:145420
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Single transverse palmar crease, Orofacial cleft, Finger clinodacty...	ORPHA:1692
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Microcephaly, Limita...	ORPHA:99742
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Full cheeks, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Single transverse palmar crease, ...	OMIM:618950
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal...	OMIM:615984
Oculoauriculovertebral Spectrum With Radial Defects	Preauricular pit, Aplasia/Hypoplasia of the thumb, Preauricular skin tag, Preaxial hand polydacty...	ORPHA:2549
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clin...	ORPHA:96148
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Microcephaly, Pie...	ORPHA:1358
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp...	OMIM:615948
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Cleft pal...	OMIM:269250
Micro Syndrome	Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia...	ORPHA:2510
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo...	OMIM:119580
Craniosynostosis 4	Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoi...	OMIM:600775
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
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Aplasia/Hypopl...	ORPHA:1827
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital hip dislocation, Micrognathia, High pala...	ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossopt...	OMIM:611209
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Widely spaced teeth, Short phalanx of finger, Short metacarpal, Depressed nasal...	OMIM:617102
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, R...	OMIM:108720
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped...	ORPHA:920
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Flexion c...	ORPHA:90322
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contra...	OMIM:300166
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ...	OMIM:180700
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ...	ORPHA:391372
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Cutaneous finger ...	OMIM:219000
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Broad nasal tip, Microgn...	ORPHA:166108
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Sh...	ORPHA:251014
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Micrognathia, Tapered finger, Partial agenesis of the corpus callosum, Wide nasa...	OMIM:620250
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re...	OMIM:612561
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth, Wide anter...	OMIM:269300
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Fanconi Anemia, Complementation Group S	Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, P...	OMIM:617883
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, High palate, Cleft palate, Micrognathia	OMIM:615731
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Dolichocephaly, C...	OMIM:167730
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Anteverted nares,...	OMIM:619135
Trisomy 20P	Micrognathia, Brachycephaly, Reduced bone mineral density, Downturned corners of mouth, Short phi...	ORPHA:261318
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla...	OMIM:618774
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Short distal pha...	OMIM:614608
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, High palate, Clinodactyly of the 5th finger, Agenesis o...	ORPHA:2059
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Macroorc...	OMIM:300143
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge,...	OMIM:228520
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Joint...	OMIM:618590
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue	OMIM:155900
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, W...	OMIM:601499
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Scarf Syndrome	Barrel-shaped chest, Cryptorchidism, Coronal craniosynostosis, Pectus carinatum, Short sternum, L...	OMIM:312830
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal...	ORPHA:40
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single transverse palmar crea...	OMIM:613443
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Bulbous nose, Wide nasal bridge, Cleft palate	OMIM:612913
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu...	OMIM:604757
Autosomal Dominant Omodysplasia	Short palm, Frontal bossing, Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elb...	ORPHA:93328
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Narrow chest, Bifid ribs, Sprengel anomaly...	ORPHA:1394
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Alobar holoprosenceph...	OMIM:615465
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, High palate, Agenesis of corpus callosum, Syndactyly, A...	OMIM:619488
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine...	ORPHA:828
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Micrognathia, Brachycephaly, Coloboma, High palate...	OMIM:607932
Genitopalatocardiac Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Micrognathia, Mi...	ORPHA:398156
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul...	OMIM:166750
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi...	ORPHA:957
Tetraploidy	Micrognathia, Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,...	ORPHA:3305
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Single transverse palma...	OMIM:616788
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion	OMIM:300261
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ...	OMIM:618736
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Retinal dystrophy, Intestinal malrotation, Optic nerve hypoplasia, Cle...	OMIM:619321
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Recombinant 8 Syndrome	Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Abnormality o...	ORPHA:96167
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Depressed nasal bridge, Single transverse palmar crease, Microcephaly, Supernumerar...	OMIM:617412
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Thin upper lip vermilion, Wide nose, Frontal bossing, Optic nerve hypoplasia, C...	OMIM:617506
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif...	OMIM:615582
Ohdo Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal ...	OMIM:249620
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha...	OMIM:175700
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Broad metatarsal...	OMIM:277600
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flat occiput, Cerebellar vermi...	OMIM:619383
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Progressive microcephaly, Long philtrum, Short ...	ORPHA:438178
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Br...	ORPHA:221139
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Cherry red spot of the macula, Optic a...	ORPHA:93400
Maternal Hyperthermia-Induced Birth Defects	Microcephaly, Joint stiffness, Cleft palate, Clinodactyly of the 5th finger, Aplasia/Hypoplasia a...	ORPHA:2216
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Optic atrophy, Full cheeks, Progressive microcephaly,...	OMIM:260565
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Cleft pala...	OMIM:610125
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Angelman Syndrome	Mandibular prognathia, Optic disc pallor, Flat occiput, Protruding tongue, Microcephaly, Optic at...	ORPHA:72
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Downturned corners of mouth, Oligodontia, Hypoplasia of the brainstem, Short philtr...	ORPHA:391408
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Joubert Syndrome 37	Frontal bossing, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial polydactyly...	OMIM:619185
Parietal Foramina 1	Encephalocele, Parietal foramina, Cleft palate, Cleft upper lip	OMIM:168500
Temtamy Syndrome	Frontal bossing, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd t...	OMIM:218340
Mend Syndrome	Overlapping fingers, Broad hallux, Prominent nasal bridge, Abnormal auditory evoked potentials, A...	ORPHA:401973
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla	OMIM:613671
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Cleft upper lip,...	OMIM:263750
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Sh...	ORPHA:436003
Thomas Syndrome	Dolichocephaly, Cleft palate, Cleft upper lip	ORPHA:3316
Metachondromatosis	Bowing of the long bones	OMIM:156250
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Torus palatinus, ...	ORPHA:2790
Schilbach-Rott Syndrome	Prominent nose, Long nose, Micrognathia, Microcephaly, Submucous cleft hard palate, 2-3 toe cutan...	OMIM:164220
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Coloboma, Exaggerated cupid's bow, Broad hallux, Tapered finger, Cryptorchidism, Sh...	OMIM:618659
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Postauricular skin tag, Dental malocclusion, Cleft pala...	OMIM:602483
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Decreased testicul...	ORPHA:93950
Peho Syndrome	Anteverted nares, Microcephaly, Tapered finger, Hydrocephalus, Short nose, Optic atrophy, Gingiva...	ORPHA:2836
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Cryptorchidism, Anosmia, Trach...	ORPHA:3157
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Retinal detachment, Flat occiput, Anteverted nar...	OMIM:152950
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C...	OMIM:614230
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, In...	ORPHA:401935
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary inc...	ORPHA:397973
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ...	OMIM:613849
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Retinal dystrophy, Proximal placement of thumb, Microcephaly, Cr...	ORPHA:139471
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Preauricular pit, Brachydactyly, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate...	ORPHA:1770
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap...	OMIM:602849
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum...	OMIM:614526
Intellectual Developmental Disorder, Autosomal Recessive 69	Microcephaly, Cerebellar hypoplasia, Hyperplasia of the maxilla	OMIM:618383
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Desmosterolosis	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Microcepha...	OMIM:602398
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Short mandibular...	OMIM:141300
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow...	ORPHA:93946
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Brachydactyly, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:614607
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Everted upper lip vermilion, Abnormality of the dentit...	OMIM:182290
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Rhizomelia, Short proximal pha...	OMIM:616638
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Postaur...	OMIM:113620
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Micrognathia, Microcephaly,...	OMIM:614437
Joubert Syndrome 40	Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosynostosis,...	ORPHA:2095
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Micrognathia, Underdevelope...	ORPHA:264200
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Tapered finger, Depressed nasal ridge, Optic atrophy, Br...	OMIM:618672
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Flat occiput, Overlapping toe, Prominent nasal bridge, Down-sloping sho...	OMIM:617452
Coffin-Siris Syndrome 6	Frontal bossing, Depressed nasal bridge, Broad nasal tip, Micrognathia, High, narrow palate, Deep...	OMIM:617808
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Spina bifida occul...	ORPHA:949
Craniofrontonasal Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Joint laxity, Broad h...	OMIM:304110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Retinal detachment, Remnants of the hyaloid vascular system, Opti...	OMIM:614643
Renpenning Syndrome	Mandibular prognathia, Decreased testicular size, Macrodontia, Prominent nose, Joint stiffness, H...	ORPHA:3242
Coffin-Siris Syndrome 11	Frontal bossing, Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Sma...	OMIM:618779
Desmosterolosis	Frontal bossing, Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, ...	ORPHA:35107
Ohdo Syndrome, X-Linked	Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid...	OMIM:300895
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, ...	ORPHA:66637
Fraser Syndrome	Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, High palate, Encephalocele, Finge...	ORPHA:2052
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Dysplasia of the fem...	OMIM:616854
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Secondary microcephaly, Long phi...	OMIM:614583
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Hypoplasia of the corpus c...	OMIM:618379
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b...	OMIM:615716
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Hyperextensibility at w...	OMIM:601492
Treacher Collins Syndrome 4	Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening	OMIM:618939
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hy...	ORPHA:459061
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cryptorchidi...	ORPHA:96184
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M...	OMIM:614091
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Joubert Syndrome 26	Frontal bossing, Cerebellar vermis hypoplasia, Anteverted nares, Cleft lip, Recurrent upper respi...	OMIM:616784
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Iris colobo...	OMIM:249000
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of th...	ORPHA:284160
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Microcephaly, Bifid nasal tip, Unilateral microphthalmos, Bilateral cle...	OMIM:618874
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulu...	OMIM:616546
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Microcephaly, Broad nasal tip, Cleft lip, Cleft palate, Large hands	OMIM:300263
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia...	ORPHA:2521
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa...	OMIM:156200
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep ph...	ORPHA:251038
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of ...	ORPHA:2457
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig...	OMIM:612313
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Prominent nasal...	ORPHA:2673
Optic Atrophy-Intellectual Disability Syndrome	Anteverted nares, Prominent nasal bridge, Optic nerve hypoplasia, Optic disc hypoplasia, Tapered ...	ORPHA:401777
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palate, Short philtrum,...	OMIM:617746
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p...	OMIM:114300
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bow...	OMIM:616462
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted...	ORPHA:228390
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Brachycephaly, Short nose, Spina bifida occ...	ORPHA:1514
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Synda...	OMIM:616894
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Cereb...	OMIM:617802
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Frontal bossing, Joint laxity, Arachnodactyly, Postaxial polydactyly, Doli...	OMIM:619721
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormal midface morphology, Hypoplasia of the maxilla, Upper limb peromel...	ORPHA:1299
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal...	OMIM:616723
Larsen Syndrome	Short metatarsal, Spina bifida occulta, Joint laxity, Vertebral fusion, Short metacarpal, Depress...	OMIM:150250
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Aplasia/Hypop...	ORPHA:280
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Abnormality of th...	ORPHA:363528
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous ...	ORPHA:261144
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Cry...	OMIM:607812
Tonne-Kalscheuer Syndrome	Decreased testicular size, Prominent nasal bridge, Prominent nose, Micrognathia, Microcephaly, Ve...	OMIM:300978
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Cerebellar hemisphere hyp...	ORPHA:500150
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris coloboma, Broad ha...	ORPHA:250989
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Wide nose, Flat occiput, Hyperextensibility of the finger joints, Promi...	ORPHA:505237
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Slender nose, Arachnodactyly, Micrognathia, Microcephaly, Flexion contracture, Calca...	ORPHA:562528
Pontocerebellar Hypoplasia, Type 3	Optic disc pallor, Depressed nasal bridge, Hypoplasia of the pons, High, narrow palate, Optic atr...	OMIM:608027
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Syndactyly, Microgn...	ORPHA:314679
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth,...	OMIM:202650
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, P...	ORPHA:137888
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial b...	OMIM:601559
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, Bifid uvula, High palate, Iris coloboma	OMIM:155145
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta...	ORPHA:228396
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation...	ORPHA:2804
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metac...	OMIM:608328
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Microcephaly, 2-3 ...	OMIM:616449
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Chorioretinal coloboma, Tri...	ORPHA:233
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Deep philtrum, Metaphys...	OMIM:255800
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Joint laxity, Tented upper lip vermilion, 2-3 toe cutaneo...	OMIM:615828
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Joint stiffness, Coxa valga, Optic atrophy, Gingival overgrowth, Cerebral atro...	OMIM:230600
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal...	OMIM:114290
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Overlapping fingers, Overlapping toe, Hig...	OMIM:618494
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Al-Gazali-Bakalinova Syndrome	Frontal bossing, Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Clinodactyly, Wide...	OMIM:607131
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Microcephaly, Cryptorchidism, Bulbous nose, Thick ...	OMIM:619103
Craniotelencephalic Dysplasia	Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en...	ORPHA:1528
Joubert Syndrome 10	Frontal bossing, Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Wide nasal b...	OMIM:300804
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia, Smo...	OMIM:602501
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion contracture, Ab...	OMIM:271665
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Scapular winging, Proxi...	ORPHA:101085
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, High, narrow pala...	OMIM:180849
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Cli...	ORPHA:2108
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, Joint contracture, Hig...	OMIM:618005
Cerebrooculofacioskeletal Syndrome 4	Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Abnormal retinal morphology, Micro...	OMIM:610758
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Frontal bossing, Tented upper lip vermilion, Deep philtrum, Depressed nasal ridge, Full cheeks, G...	ORPHA:2104
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Single tr...	OMIM:247200
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling,...	OMIM:166300
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Rec...	ORPHA:2399
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Microcephaly, Narrow mouth, Long fingers, Brachycephaly, Cl...	OMIM:156610
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Frontal bossing, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2994
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Po...	OMIM:617527
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu...	OMIM:156550
Autosomal Recessive Amelia	Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Full cheeks, Amelia involvi...	ORPHA:1027
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Short palm, Brachydactyly, J...	ORPHA:2588
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ...	OMIM:211350
Monosomy 9P	Proximal placement of thumb, Micrognathia, Brachycephaly, High palate, Agenesis of corpus callosu...	ORPHA:261112
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Anteriorly placed anus, Short upper ...	OMIM:200110
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Depressed nasal bridge, Facial palsy, Broad nasal tip, Micrognathia, Trismus, M...	OMIM:254940
Spastic Paraplegia 54, Autosomal Recessive	Distal upper limb muscle weakness, High palate, Optic nerve hypoplasia, Hypoplasia of the corpus ...	OMIM:615033
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Choanal atresia, Micrognathia, Protruding tongue, Microcephaly, Fle...	ORPHA:98889
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Conical tooth, Bilateral...	OMIM:613451
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Short metacarpal, Prominent nasal bridge, Prominent no...	ORPHA:627
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Microdontia, Clinodactyly of the 5th finger, Spina bif...	ORPHA:904
Kagami-Ogata Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxill...	OMIM:608149
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Large tarsal bones, Micrognathia,...	OMIM:215150
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Progressive microcephaly, Everted lower lip ...	OMIM:617865
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Cerebral atrophy, Hypoplasia of the brainstem, Th...	OMIM:616420
Baller-Gerold Syndrome	Narrow nasal bridge, Frontal bossing, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, ...	ORPHA:1225
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Micrognathia, Cleft palate, Cleft upper lip	OMIM:601076
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Joint hypermobility, Microcephaly, Cleft lip, Pierre-Robin sequence, Fl...	OMIM:619504
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism...	OMIM:614613
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Finger joint hypermobility, Hyposmia	OMIM:244200
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Micrognathia, Hydrocephalus, Brachycephaly, Cleft palate, Pro...	OMIM:220210
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, B...	ORPHA:495875
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg...	OMIM:618363
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Cleft palate, Ulnar deviati...	OMIM:222600
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single transverse palmar crea...	OMIM:619188
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Single transverse palmar cre...	ORPHA:521426
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Bifid uvula, Da...	ORPHA:2671
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnormality of the anu...	OMIM:607872
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele...	OMIM:601357
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Sandal gap, Underde...	OMIM:616835
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,...	ORPHA:90321
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ...	OMIM:611134
Gapo Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, Retinal ar...	OMIM:230740
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Cleft palate, Reduced bone mineral density, Prominent...	ORPHA:577
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Preauricular pit, Joint stiffness, Micrognathia, High, narrow palate, Underdeveloped nasal alae, ...	ORPHA:2516
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Short sternum, Long philtrum, Triangul...	OMIM:257300
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Trigonocephaly, Microcephal...	ORPHA:363659
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Orofaciodigital Syndrome V	Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Unilateral cr...	OMIM:174300
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Optic atrophy, Reduced bone mineral density, Downturned corners of mouth, Joint...	ORPHA:1185
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Gómez-López-Hernández Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Hydrocephalus, Brachycephaly, Thin ...	ORPHA:1532
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypopl...	ORPHA:96149
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Na...	ORPHA:96097
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Promine...	OMIM:229850
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Trigonocephaly, Cleft palate, Micrognathia	ORPHA:1779
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, Single tr...	ORPHA:96334
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,...	OMIM:179613
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping should...	ORPHA:1974
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Ph...	OMIM:268300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Juvenile Sialidosis Type 2	Protruding tongue, Cherry red spot of the macula, Optic atrophy, Gingival overgrowth, Umbilical h...	ORPHA:93399
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ...	OMIM:614749
Johnson Neuroectodermal Syndrome	Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous no...	ORPHA:2316
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Preauricular pit, Wide nose, Choanal atresia, Microcephaly, Esophageal atresia, Submucous cleft h...	OMIM:619227
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
49,Xxxxy Syndrome	Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Holoprosencephaly, Clinodactyly of t...	ORPHA:96264
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Microcephaly, Bulbous nose, Meningocele, Postaxia...	ORPHA:46059
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Single transverse palmar...	OMIM:210600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Flexion contracture, Narrow mouth, Microphthalmia, Agenesis...	OMIM:614833
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p...	OMIM:617140
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, High...	OMIM:608612
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Short philtrum, Holoprosen...	ORPHA:1449
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Braddock-Carey Syndrome 1	Anteverted nares, Microcephaly, Clinodactyly, Pierre-Robin sequence, Small hand, Wide nasal bridg...	OMIM:619980
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Thoracic hy...	OMIM:619751
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Cleft palate, Microphthalmia	OMIM:613456
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Microcephaly, Preauricular skin tag, Wide mouth, Short foot, Me...	OMIM:619758
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Retinopathy, Palmar pits, Hydrocep...	ORPHA:77301
Focal Facial Dermal Dysplasia Type Iv	Abnormal cheek morphology, Microcephaly, Cleft upper lip, Hydrocephalus, Cleft palate, Abnormal b...	ORPHA:398189
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M...	OMIM:227330
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Pseudodiastrophic Dysplasia	Frontal bossing, Anteverted nares, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow disloc...	OMIM:264180
Chromosome 13Q14 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Deep philtrum, High palate, Holoprosencephaly, Cho...	OMIM:613884
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Tapered f...	OMIM:609460
Abruzzo-Erickson Syndrome	Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Coloboma, Rad...	ORPHA:921
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Single transvers...	OMIM:619720
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Miller-Dieker Syndrome	Anteverted nares, Abnormal upper lip morphology, Hypoplasia of the corpus callosum, Clinodactyly ...	ORPHA:531
Auriculocondylar Syndrome 3	Micrognathia, Full cheeks, Glossoptosis, Retrognathia, Bifid uvula	OMIM:615706
Jacobsen Syndrome	Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Pyloric steno...	OMIM:147791
Seckel Syndrome 5	Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Cle...	OMIM:613823
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Pr...	ORPHA:261211
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy	ORPHA:1995
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Diastema, Broad nasal tip, Hydrocephalus, Cryptorchid...	OMIM:609757
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Coloboma, Joint laxity, Depressed nasal bridge, Cryptorchidism, Myel...	ORPHA:94065
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Epiphyseal stippling	OMIM:614876
Trisomy 18P	Facial palsy, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Pyloric stenosis, Mic...	ORPHA:1715
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Facial palsy,...	OMIM:301041
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the hand, Abnormality of the dentition, Micrognathia,...	ORPHA:476126
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Biparietal narrowing, Cho...	ORPHA:2031
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi...	ORPHA:2879
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Anauxetic Dysplasia 3	Short metacarpal, Brachydactyly, Depressed nasal bridge, Hip subluxation, Wide anterior fontanel,...	OMIM:618853
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ...	OMIM:613458
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem...	OMIM:142946
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Broad hallux, Olivopontocerebellar hypoplasia, Postaxia...	ORPHA:457284
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Flexion contracture,...	ORPHA:258
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Microcep...	ORPHA:251071
Trisomy 17P	Wide nose, Prominent nose, Micrognathia, Microcephaly, Hydrocephalus, Flexion contracture, Tapere...	ORPHA:261290
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Cl...	OMIM:115150
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Sandal gap, Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Mi...	OMIM:300887
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypo...	OMIM:619841
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur...	OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of ...	OMIM:615181
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Crypt...	ORPHA:2008
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Flexion contractu...	OMIM:620240
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, Hypoplasia o...	OMIM:615574
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas...	OMIM:209885
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Aplasia/Hypoplasi...	ORPHA:531151
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Humeroradial synostosis, Hypoplasi...	ORPHA:3404
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ...	OMIM:272460
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cere...	OMIM:620001
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Pyloric st...	ORPHA:457279
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab...	ORPHA:436
Mosaic Trisomy 9	Micromelia, Micrognathia, Finger clinodactyly, High palate, Biparietal narrowing, Dandy-Walker ma...	ORPHA:99776
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce...	ORPHA:2911
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Microcephaly, Cleft upper lip, Abnormal toe morphology, Abnormal...	OMIM:216100
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Full cheeks, Thick vermilion border, Long philtrum, Short nose	ORPHA:833
Gorlin Syndrome	Mandibular prognathia, Frontal bossing, Vertebral fusion, Arachnodactyly, Carious teeth, Cryptorc...	ORPHA:377
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Sa...	OMIM:618430
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa...	ORPHA:1200
Lambotte Syndrome	Microcephaly, Narrow mouth, Preaxial foot polydactyly, Retrognathia, Convex nasal ridge, Semiloba...	OMIM:245552
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cryptorchidism, Submucous cleft hard palat...	OMIM:613805
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Preauricular pit, Intestinal malrotation, Prominent ...	ORPHA:457193
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clinoda...	OMIM:618454
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Prominen...	ORPHA:371364
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Neuhauser Syndrome	Osteopenia, Frontal bossing, Depressed nasal bridge, Arachnodactyly, Micrognathia, Microcephaly, ...	OMIM:249310
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone...	OMIM:615633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Hydrocephalus, Flexi...	OMIM:613155
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Cyclopia, Aplasia/Hypoplasia of the cerebellum, Absent nar...	ORPHA:990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Abnormality of the d...	ORPHA:2801
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Agenesis of corpus ...	OMIM:619194
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Microcephaly, Abnormal nostril morphology, Narrow mouth, Micro...	ORPHA:3469
Cleft Palate-Large Ears-Small Head Syndrome	Microcephaly, Micrognathia, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Short d...	ORPHA:2013
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Cry...	OMIM:312870
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Arachnodactyly, L...	ORPHA:2759
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Optic atrophy, Gingival overgrowth, Secondary microcephaly, Agenesis of corpus...	OMIM:620352
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Joint hypermobility, Osteoarthritis, Irregularly spaced ...	OMIM:130000
Prader-Willi Syndrome Due To Translocation	Flat occiput, Prominent nose, Micrognathia, Clinodactyly, Downturned corners of mouth, High palat...	ORPHA:177907
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Dis...	OMIM:608154
Cree Mental Retardation Syndrome	Cleft soft palate, Rocker bottom foot, Micrognathia, Cryptorchidism, Brachycephaly, Coloboma, Cut...	OMIM:606851
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical...	ORPHA:3416
Mullegama-Klein-Martinez Syndrome	Prominent nose, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Preaur...	OMIM:301022
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor...	ORPHA:2636
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Cerebral atrophy, Knee flexion contractu...	ORPHA:496689
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Congenital Myopathy 22B, Severe Fetal	Frontal bossing, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion c...	OMIM:620369
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Genu varum, Depressed nasal b...	OMIM:271510
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen...	OMIM:210710
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Mic...	OMIM:263210
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Wi...	ORPHA:251061
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of...	OMIM:619293
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum	OMIM:611867
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidi...	ORPHA:250999
Trisomy 10P	Micrognathia, Orofacial cleft, High palate, Abnormal hip joint morphology, Dandy-Walker malformat...	ORPHA:171929
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib...	ORPHA:1803
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Depressed nasal bridge, Microcephaly, Long fingers, Bulbous nose, Flexion contra...	OMIM:601110
Chromosome 15Q11.2 Deletion Syndrome	Smooth philtrum, Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, ...	OMIM:615656
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Retinal detachment, Decreased palmar creases, Cranio...	ORPHA:2953
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Or...	OMIM:601701
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Long p...	ORPHA:2215
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Anteverted ...	ORPHA:97360
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, Hyperplasia of midface, High palate, Clinodactyly of the...	OMIM:611174
Bamforth-Lazarus Syndrome	Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Harel-Yoon Syndrome	Mandibular prognathia, Frontal bossing, Peripheral axonal neuropathy, Micrognathia, Optic atrophy...	OMIM:617183
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Foot po...	ORPHA:210548
Char Syndrome	Mesoaxial foot polydactyly, Depressed nasal bridge, Toe syndactyly, Mesoaxial hand polydactyly, P...	ORPHA:46627
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Cleft upper lip, Cr...	OMIM:610443
Hypophosphatasia, Childhood	Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce...	OMIM:184250
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten...	ORPHA:280200
Noonan Syndrome 13	Joint laxity, Anteverted nares, Overlapping toe, Micrognathia, Microcephaly, Cryptorchidism, Clin...	OMIM:619087
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa, Cutaneous finge...	OMIM:224690
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Donnai-Barrow Syndrome	Retinal detachment, Depressed nasal bridge, Intestinal malrotation, Retinal dystrophy, Wide anter...	ORPHA:2143
Pentasomy X	Camptodactyly of finger, Micrognathia, Microcephaly, Small hand, Wide nasal bridge, Plagiocephaly...	ORPHA:11
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cerebellar verm...	OMIM:242840
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metaphyse...	OMIM:614524
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Microcephaly, Wide anterior fontanel, Partial agenesis of th...	ORPHA:3338
Zimmermann-Laband Syndrome	Hallux valgus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis,...	ORPHA:3473
Frank-Ter Haar Syndrome	Osteopenia, Abnormally large globe, Micrognathia, High palate, Short palm, Short phalanx of finge...	OMIM:249420
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hydro...	OMIM:109120
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Brachycephaly, High pa...	OMIM:244450
Fibrous Dysplasia Of Bone	Abnormal occipital bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa va...	ORPHA:249
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Brachycephaly, Downturned cor...	OMIM:611961
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachyc...	ORPHA:178377
Adams-Oliver Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Microcephaly, Bulbous nose...	OMIM:614219
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Peters Plus Syndrome	Micromelia, Micrognathia, Brachycephaly, Widely spaced teeth, Clinodactyly of the 5th finger, Spi...	ORPHA:709
Zellweger Syndrome	Flat occiput, Depressed nasal bridge, Abnormal chorioretinal morphology, Malabsorption, Micrognat...	ORPHA:912
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Bilateral single transverse palmar creases, Micrognathia, Microdontia, Micropht...	ORPHA:3191
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Prominent nasal bridge, Joint hypermobility, Joint stiffness, Long nose, Microce...	OMIM:619184
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Prominent nose, Underdeveloped nasal alae, Micrognathia, Microcephaly,...	ORPHA:447980
Fetal Valproate Spectrum Disorder	Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi...	ORPHA:1906
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short p...	OMIM:309590
Down Syndrome	Joint laxity, Short palm, Aganglionic megacolon, Single transverse palmar crease, Sandal gap, Pro...	OMIM:190685
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Cleft upper lip, Long nose, Micrognathia, ...	OMIM:251260
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f...	ORPHA:373
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Abnor...	ORPHA:3472
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Anteverted nar...	OMIM:301044
Fetal Hydantoin Syndrome	Microcephaly, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip ...	ORPHA:1912
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Micrognathia, Microc...	OMIM:613026
Autosomal Recessive Stickler Syndrome	Retinal detachment, Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperfle...	ORPHA:250984
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Furr...	OMIM:615108
Isolated Klippel-Feil Syndrome	Spina bifida, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, ...	ORPHA:2345
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Joint stiffness, Abnormality of cartilage of external ear, W...	ORPHA:324313
Nabais Sa-De Vries Syndrome, Type 2	Frontal bossing, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose...	OMIM:618829
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd...	OMIM:300990
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Microcephaly, Myelomeningocele, Postaxial hand po...	OMIM:607330
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Prominent nasal bridge, ...	ORPHA:313781
3Mc Syndrome 1	Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Microcephaly, Cl...	OMIM:257920
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Brachydactyly, Depressed nasal ...	OMIM:601088
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor...	OMIM:613406
Galloway-Mowat Syndrome 1	Flat occiput, Prominent nose, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, ...	OMIM:251300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Downturned corners of mouth, Coloboma, Oligodontia, High palate, Bifid uvula, Preauri...	ORPHA:453499
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Subretinal pigment ...	ORPHA:357074
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Prominent nose, Metaphyseal sclerosis, Abnormal mandible cond...	ORPHA:2976
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wid...	OMIM:207410
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
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognat...	ORPHA:94068
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Malar prominence, Micrognathia, Osteoporosis, Motor axonal neuropathy, M...	ORPHA:48431
Pelger-Huet Anomaly	Frontal bossing, Depressed nasal bridge, Abnormality of the dentition, Gingival overgrowth, Upper...	OMIM:169400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Arachnodactyly, Prominent nasal bridge, Convex nasal ridge, Prominent no...	OMIM:601552
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty...	ORPHA:264450
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum...	OMIM:610759
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Micrognathia, Microcephaly, Cryptorchidism, Hydrocep...	ORPHA:1865
Atelis Syndrome 2	Frontal bossing, Remnants of the hyaloid vascular system, Single transverse palmar crease, Promin...	OMIM:620185
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ...	OMIM:619005
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Abnormally large globe, Brachycephaly, Shoulder dislocation, Microdonti...	OMIM:245600
Oculocerebrofacial Syndrome, Kaufman Type	Chorioretinal dystrophy, Flat occiput, Arachnodactyly, Micrognathia, Microcephaly, High, narrow p...	ORPHA:2707
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Microcephaly, Narrow mouth, Bila...	OMIM:613457
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ...	OMIM:271650
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydrocephalus,...	ORPHA:3412
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Cleft palate, Cleft upper lip	OMIM:214300
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmia, Decreas...	OMIM:602361
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Tapered fing...	ORPHA:65286
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Microcephaly, Tapered finger, Flexion contracture, Hyperextensibility at wri...	ORPHA:544503
Optic Atrophy 11	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Facial diplegia, Bilateral talipes equinovar...	OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm...	OMIM:309545
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan...	OMIM:620186
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Prominent nasal bridge, Single transverse palmar crease, B...	OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Mic...	OMIM:300260
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Depressed nasal bridge, Single transverse palmar crease, Craniosynostosis, Micro...	OMIM:614114
Beare-Stevenson Cutis Gyrata Syndrome	Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of corpus callosum,...	OMIM:123790
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Anteverted n...	OMIM:618316
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Furr...	OMIM:615109
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Poikiloderma With Neutropenia	Joint laxity, Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, ...	OMIM:604173
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender long bone, Decreased calvari...	OMIM:618265
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Micrognathia, Vitritis, Retinal dysplasia, Agenesis of cor...	ORPHA:2556
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Microcephaly, Radial club hand, Cleft palate...	ORPHA:2165
Deafness-Craniofacial Syndrome	Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae,...	ORPHA:3241
Alg3-Cdg	Osteopenia, Abnormality of the nose, Hypoplasia of the pons, Microcephaly, Metaphyseal chondrodys...	ORPHA:79321
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Open bite, Dental malocclusion, Gingival ove...	ORPHA:61
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Long fingers, B...	OMIM:613174
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Broad hallux, Sandal gap, Short 2nd finger,...	OMIM:600987
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Micromelia, Iliac crest ser...	OMIM:613320
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed nasal bridge, A...	ORPHA:1512
Macrocephaly/Autism Syndrome	Joint laxity, Frontal bossing, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal ...	OMIM:605309
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Bilateral cr...	ORPHA:314575
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Trigonocephaly, Short nose	OMIM:300581
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of...	OMIM:269860
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
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent...	ORPHA:238468
Branchiogenic-Deafness Syndrome	Branchial cyst, Preauricular pit, Branchial fistula, Trismus, Submucous cleft hard palate, Preaur...	OMIM:609166
48,Xxxy Syndrome	Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Abno...	ORPHA:96263
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly...	ORPHA:513456
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduced bone miner...	ORPHA:881
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Achondrogenesis, Type Ii	Microretrognathia, Frontal bossing, Absent vertebral body mineralization, Broad long bones, Abnor...	OMIM:200610
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Proximal placement of thumb, High, narrow palate, Brachycephaly, Knee f...	OMIM:613776
Diamond-Blackfan Anemia 1	Cleft upper lip, Micrognathia, Parietal foramina, Microcephaly, Short thumb, Depressed nasal ridg...	OMIM:105650
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of...	OMIM:618505
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly ...	ORPHA:2001
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Preauricular pit, Turricephaly, Anteverted nares, Depressed nasal bridge, Broad hallux, Micrognat...	OMIM:620224
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Coloboma, High palate, Short philtrum, Clinod...	OMIM:309500
Rapadilino Syndrome	Slender nose, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft palate,...	OMIM:266280
Mend Syndrome	Microretrognathia, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Cryptorch...	OMIM:300960
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Joint stiffness, Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Tooth agenesis, Abnorm...	ORPHA:1166
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Mal...	OMIM:613038
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi...	ORPHA:60015
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Sandal gap, Dolichocephaly, High, na...	OMIM:612863
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Osteopenia, Cerebellar vermis hypoplasia, Dental crowding, Metaphyseal wid...	OMIM:620083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Frontal bossing, Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nos...	OMIM:614080
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Microcephaly, Narrow mouth, Short nose, Brach...	OMIM:616459
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis...	OMIM:613150
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Thin vermilion border, Sh...	ORPHA:2983
Acrofrontofacionasal Dysostosis 2	Syndactyly, Wide nose, Broad hallux, Microcephaly, Wide anterior fontanel, Brachycephaly, Hand po...	OMIM:239710
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Microcephaly, Cryptorchidism, Depressed nasal ridge, G...	ORPHA:464288
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Flat occiput, Abnormal dental enamel morphology, Open bite,...	ORPHA:10
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Long toe, Anteverted nares, Depres...	OMIM:158170
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Bilateral cleft lip and palate, Chorioretinal coloboma, Microp...	ORPHA:1473
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Agenesis of corpus callosum	OMIM:616540
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Cryptorchidism, Dental malocclusion, Anos...	OMIM:603457
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa...	ORPHA:2083
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Abnormal digit ...	ORPHA:95494
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Microcephaly, Proximal placement of...	ORPHA:3121
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Tolchin-Le Caignec Syndrome	Arachnodactyly, Prominent nose, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Wide na...	OMIM:618971
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Holoprosencephaly, Biparietal narrowing, Advanced erup...	ORPHA:818
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella...	OMIM:161200
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Macrodontia, Anteverted nares, Prominent nasal bridge...	ORPHA:2332
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intest...	OMIM:601707
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Thin upper lip vermilion, Frontal bossing, Hip contracture, Anteverted nares, Promine...	OMIM:616801
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Broad nasal tip, Microcephaly, Cryptorchidism, Brachycephaly, 2-3 toe syndactyly...	ORPHA:3306
Mosaic Variegated Aneuploidy Syndrome 3	Microcephaly, Cleft palate, Arthrogryposis multiplex congenita, Rod-cone dystrophy, Convex nasal ...	OMIM:617598
Ramos-Arroyo Syndrome	Frontal bossing, Abnormal midface morphology, Aganglionic megacolon, Anteverted nares, Depressed ...	ORPHA:1051
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Short philtrum, Secondary ...	OMIM:618437
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Schisis Association	Encephalocele, Spina bifida, Microcephaly, Micromelia, Anencephaly, Tracheoesophageal fistula, Cl...	ORPHA:63862
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridg...	ORPHA:2282
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration, Abnormality of the dentition	OMIM:251700
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Hypopl...	OMIM:273395
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F...	ORPHA:2092
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Multiple prenatal fractures, Bul...	OMIM:618644
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Trigonocephal...	ORPHA:1642
C Syndrome	Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Disl...	ORPHA:1308
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Coloboma, High palate, Clinod...	OMIM:616975
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, ...	ORPHA:2211
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polyda...	ORPHA:397590
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Clinodactyly, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly...	ORPHA:95699
Alg9-Cdg	Villous atrophy, Micrognathia, Brachycephaly, Narrow greater sciatic notch, Abnormal bone ossific...	ORPHA:79328
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Thi...	OMIM:610015
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Distal Duplication 17Q	Joint laxity, Thin upper lip vermilion, Frontal bossing, Hallux valgus, Depressed nasal bridge, A...	ORPHA:3379
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Bifid nose, Chorioretina...	ORPHA:268249
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Chromosome 19P13.13 Deletion Syndrome	Frontal bossing, Optic atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:613638
Hartnup Disorder	Glossitis	OMIM:234500
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Microcephaly, Cryptorchidism, Hydrocephalus, Postaxial hand polyd...	OMIM:264480
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Bifid uvula, Dandy-Walker malformation, Joint laxity, Depressed na...	OMIM:300968
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris...	OMIM:142945
Acrocephalopolydactyly	Oxycephaly, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Microcephaly, Recurrent upper respi...	ORPHA:3078
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,...	ORPHA:247262
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Hypoplasia ...	OMIM:613803
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Pseudoachondroplasia	Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost...	OMIM:177170
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasi...	OMIM:234050
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Abnormally ossified vertebrae, Depressed nasal bridge, Flexion contracture, Neon...	ORPHA:35173
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala...	ORPHA:221120
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Full c...	ORPHA:284169
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Clinodactyly, Brachycephal...	OMIM:616789
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Microcephaly, Protruding tongue	OMIM:619580
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Shor...	OMIM:224410
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Da...	OMIM:220500
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Microcephaly, Tapered finger, Brachycephaly, Wide nasal bridge, Downtur...	ORPHA:352530
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatarsus a...	OMIM:121050
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia, Clinodactyly, Decreased tes...	OMIM:614838
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Anteverted nares, Broad hallux, Postaxial polydactyly, Microcephaly, ...	OMIM:616362
Joubert Syndrome 2	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge, Retinal dy...	OMIM:608091
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Tongue atrophy, Optic atrophy	ORPHA:216873
1P36 Deletion Syndrome	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Narr...	ORPHA:1606
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Abnormal large intestine morp...	ORPHA:109
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Upper limb asymmetry, Umbilical hernia,...	ORPHA:2505
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Retinal dysplasia, Microphthalmia	ORPHA:324416
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Coloboma, Holopros...	OMIM:214800
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s...	OMIM:117650
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Anteverted nares, Microcephaly, Thick lower lip vermilion, ...	ORPHA:1942
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Pectu...	OMIM:615349
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition	OMIM:183400
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Underdeveloped nasal alae...	ORPHA:2315
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion...	ORPHA:363444
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Primary mic...	OMIM:620183
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Al Kaissi Syndrome	Thin upper lip vermilion, Macrodontia, Depressed nasal bridge, Broad nasal tip, Microcephaly, Hig...	OMIM:617694
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Abnormal rib morphology, Anal atresia	ORPHA:195
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Joint contracture, Dandy-...	OMIM:609029
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Frontal bossing, Scaphocephaly, Dental malocclusion, Wide nasal bridge,...	OMIM:619149
Acalvaria	Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly	ORPHA:945
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Preauricular skin tag, Cryptorchidism, Bilatera...	OMIM:154500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu...	OMIM:608940
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Plagiocephaly, Sandal gap, Narrow palate	OMIM:615516
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor...	OMIM:612292
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Decreased testicular size, Anteverted nares, Prominent...	OMIM:615663
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ...	ORPHA:798
Malan Overgrowth Syndrome	Optic disc pallor, Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Scaphocephaly,...	ORPHA:420179
Velocardiofacial Syndrome	Abnormality of the hand, Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Velopharyngeal ...	OMIM:192430
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lob...	ORPHA:434179
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fundus, Furr...	OMIM:158350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Short palm, Agenesis of ...	ORPHA:93271
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Prominent nose, Microcephaly, Micropht...	OMIM:610756
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Isolated Dandy-Walker Malformation	Encephalocele, Frontal bossing, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Prominen...	ORPHA:217
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Microcephaly, Absent radiu...	ORPHA:1352
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing...	ORPHA:2928
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Brachycephaly, Knee fle...	OMIM:259050
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Kury-Isidor Syndrome	Frontal bossing, Finger syndactyly, Tented upper lip vermilion, Anteverted nares, Rocker bottom f...	OMIM:619762
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Dolichocephaly, Cryptorchid...	OMIM:130720
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Microcephaly, Hip dislocation, Brachycephaly, Wide mouth...	OMIM:608776
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Abnormal cheek morphology, Prominent nose, Long nose, Micrognathia, Bulb...	ORPHA:3047
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Short Stature And Facioauriculothoracic Malformations	Microcephaly, High palate, Cleft palate, Cleft upper lip	OMIM:609654
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Tapered finger, Cryptorchidism, Hip dislocation, Wide nasal bridge, ...	OMIM:619435
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Narrow nasal r...	OMIM:612940
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Narrow palat...	ORPHA:2063
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microcephaly, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia...	OMIM:609053
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bul...	OMIM:603736
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Cleft palate, Fl...	ORPHA:1856
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Rectal prolapse, Short metatarsal, Brachycephaly, High palate, Short metacarpal,...	OMIM:617157
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Short nose, Cerebr...	ORPHA:85277
Fanconi Anemia, Complementation Group L	Micrognathia, Absent thumb, Esophageal atresia, Hydrocephalus, Absent radius, Wide nasal bridge, ...	OMIM:614083
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, Shoulder girdle muscle we...	OMIM:158900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, M...	OMIM:618618
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Microcephaly, Tapered finger, ...	OMIM:619680
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ...	OMIM:231070
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Prominent nose, Micrognathia, Brachycepha...	OMIM:612474
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Microcephaly, Dental malocc...	OMIM:613680
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Mi...	OMIM:615873
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly	OMIM:245570
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Aplasia/Hypoplasia of the cerebellum, Micrognat...	ORPHA:1052
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueduc...	OMIM:619895
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia, Microcephaly	OMIM:616335
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom...	OMIM:300912
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ...	ORPHA:404448
Rere-Related Neurodevelopmental Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Micrognathia, C...	ORPHA:494344
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ...	OMIM:619512
Tetrasomy 18P	Microcephaly, Large hands, Thin vermilion border, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis...	ORPHA:3082
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, R...	OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Carious teeth, Microc...	OMIM:616734
3Mc Syndrome 3	Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clino...	OMIM:248340
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Koolen-De Vries Syndrome	High, narrow palate, Microdontia, Thick nasal alae, Vertebral fusion, Arachnodactyly, Abnormal de...	ORPHA:96169
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Trichothiodystrophy 3, Photosensitive	Natal tooth, Trigonocephaly, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion,...	OMIM:616395
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl...	OMIM:613610
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Bifid uvula, Disl...	OMIM:130070
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclu...	OMIM:612731
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Microcephaly, Wide nasal bridge, Cleft palate, Prominent occiput, Spina bifida ...	ORPHA:1797
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short...	OMIM:611717
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Microcepha...	ORPHA:521445
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Bulbous nose, ...	OMIM:615803
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Microcephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal...	OMIM:301030
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus excavatum, Osteo...	OMIM:619131
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus...	OMIM:223800
Cooper-Jabs Syndrome	Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Brachyce...	ORPHA:1488
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Diabetic Embryopathy	Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate, Spinal ...	ORPHA:1926
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Frontal bossing, Prominent nose, Microcephaly, Wide nasal bridge, Br...	ORPHA:1292
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Anteverted...	ORPHA:280633
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis...	OMIM:604292
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Micrognathia, Microcephaly, ...	OMIM:616258
Sclerosteosis 1	Mandibular prognathia, Papilledema, Frontal bossing, Syndactyly, Depressed nasal bridge, Facial p...	OMIM:269500
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Microcephaly, ...	OMIM:616038
Bohring-Opitz Syndrome	Micrognathia, Coloboma, Congenital contracture, Agenesis of corpus callosum, Prominent palatine r...	ORPHA:97297
Muenke Syndrome	Tarsal synostosis, High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped ...	ORPHA:53271
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Microcephaly, Flexion contracture, Optic atrophy, Osteoporosis, Cerebral...	OMIM:615851
Aymé-Gripp Syndrome	Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered finge...	ORPHA:1272
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Broad na...	ORPHA:438216
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Micrognathia, Microcephaly, Cryptorchidism, Bowing of the legs, Scaphoc...	OMIM:617164
Neurooculocardiogenitourinary Syndrome	Prominent nasal bridge, Bilateral cryptorchidism, Downturned corners of mouth, Coloboma, Secondar...	OMIM:618652
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth,...	ORPHA:2728
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ...	OMIM:614207
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Spina bifida, Abnormal t...	ORPHA:1120
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis...	ORPHA:85199
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Acces...	ORPHA:503
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur...	OMIM:610915
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Macular degeneration, Widely spaced teeth, High palat...	OMIM:266920
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co...	OMIM:619124
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow ...	OMIM:615777
Mosaic Trisomy 8	Frontal bossing, Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognat...	ORPHA:96061
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Rhizomelia, Increased f...	OMIM:258315
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge...	OMIM:119500
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Microcephaly, Micrognathia, Cleft palate, Shor...	OMIM:181180
Distal Deletion 3P	Preauricular pit, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Postaxial hand po...	ORPHA:1620
Cardiofaciocutaneous Syndrome 4	Joint laxity, Cerebellar hypoplasia, Optic nerve hypoplasia, Palmoplantar hyperkeratosis	OMIM:615280
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Opitz Gbbb Syndrome	Micrognathia, High palate, Agenesis of corpus callosum, Dandy-Walker malformation, Preauricular p...	ORPHA:2745
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
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Short palm, Finger syndactyly, Toe clinodactyly, Anteverted nares, Sandal ga...	ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Thickened calvaria, Frontal bossing, Joint laxity, Dental crowding, Hallux v...	OMIM:300967
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Wide nose, Anophthalmia, Anteverted nares, Chorioretinal dysplasia, Retinal d...	ORPHA:2526
Weiss-Kruszka Syndrome	Preauricular pit, Anteverted nares, Exaggerated cupid's bow, Single transverse palmar crease, Pro...	OMIM:618619
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis, Cleft palate	OMIM:302905
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Microcephaly, Preauricu...	ORPHA:1236
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal cupping, Metaphy...	OMIM:156400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypoplasia of the brainstem, Widely spaced teeth, Iris coloboma, Abnormal optic chiasm morphology...	ORPHA:268261
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca...	OMIM:147891
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Copper beaten skull, High palate, Dislocated radial h...	OMIM:617063
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Kniest Dysplasia	Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora...	ORPHA:485
Cerebrocostomandibular Syndrome	Spina bifida, Micrognathia, Tracheomalacia, Microcephaly, Myelomeningocele, Meningocele, Cleft pa...	ORPHA:1393
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrop...	OMIM:256600
Specc1L-Related Hypertelorism Syndrome	Preauricular pit, Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasa...	ORPHA:1519
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:241530
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Cerebellar vermis hypoplasia, Cryptorchidism, Brachycephaly,...	ORPHA:364028
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Abnormality of the dent...	ORPHA:90154
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Premature loss of primary teeth, Promi...	OMIM:617364
Distal Deletion 15Q	Thin upper lip vermilion, Flat occiput, Single transverse palmar crease, Abnormality of the denti...	ORPHA:1596
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Joint stiffness, Gingival fibromatosis, Gingival overgrowth, Os...	ORPHA:2028
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Microcephaly, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corners...	OMIM:618089
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Prominent nasal bridge, Choanal atresia, Optic disc coloboma, Cleft palate, High palate, Retrogna...	ORPHA:52055
Microphthalmia, Syndromic 3	Frontal bossing, Optic nerve aplasia, Anophthalmia, Vertebral fusion, Optic nerve hypoplasia, Mic...	OMIM:206900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
22Q11.2 Duplication Syndrome	Wide nose, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, Midface retrusion, Sm...	ORPHA:1727
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Pallister-Hall Syndrome	Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, ...	ORPHA:672
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morpho...	OMIM:305100
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Microcephaly, Flexion contracture, Microphthalmia, Triangu...	OMIM:601675
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Preauricular pit, Microcephaly, Underdeveloped nasal alae, Cleft palate, Hydranencephaly, Short d...	OMIM:601355
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Short palm, Clinodactyly of the 5th fi...	OMIM:620073
Lig4 Syndrome	Micrognathia, Malabsorption, Microcephaly, Cryptorchidism, Wide nasal bridge, Brachycephaly, Thin...	ORPHA:99812
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Short nose, Midface retrusion	ORPHA:1129
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Microcephaly, Clinodactyly, Cerebellar hypoplasia, Short nose	OMIM:618087
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid...	OMIM:275210
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg...	ORPHA:3409
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturned corners of mouth, W...	ORPHA:79500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla...	OMIM:617895
Peroxisome Biogenesis Disorder 2A (Zellweger)	Turricephaly, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism,...	OMIM:214110
Unilateral Ocular Duplication	Encephalocele, Frontal bossing, Median cleft lip, Cleft palate, Dolichocephaly, Iris coloboma	ORPHA:3374
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Abnormally large globe, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Holzgreve Syndrome	Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morpholog...	ORPHA:2167
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Cryptorchidism, Humeroradial synos...	OMIM:134780
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Nijmegen Breakage Syndrome	Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Microcephaly, Deep...	ORPHA:647
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, M...	ORPHA:140936
8Q12 Microduplication Syndrome	Narrow mouth, Wide nasal bridge, Brachycephaly, Short foot, Everted lower lip vermilion, Long phi...	ORPHA:228399
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Joint laxity, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom f...	ORPHA:488642
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Menin...	ORPHA:2311
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Dandy-Walker malformation, Ant...	ORPHA:1465
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Retinal dystrophy, Flexion contracture, Hip dislocation, Cerebral atrophy, Tongue...	OMIM:614678
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Microphthalmia	ORPHA:261272
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pu...	ORPHA:800
Native American Myopathy	Joint laxity, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, Congenital...	ORPHA:168572
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hydrocephalus, Cryptorchidism, Tracheoesophageal fistula, Holop...	ORPHA:77298
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocepha...	OMIM:615433
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Microcephaly, Abnormal...	ORPHA:3186
H Syndrome	Hallux valgus, Recurrent fractures, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Hydroc...	ORPHA:168569
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Neonatal...	OMIM:601186
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Wide mouth, Thin vermilion borde...	ORPHA:544254
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Flat occiput, Micrognathia, Cryptorchidism, Postaxial hand polydactyly,...	OMIM:235255
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Micrognathia, Hiatus hernia, Microcephaly, Hip dislocation, Cere...	OMIM:617729
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, High palat...	ORPHA:2180
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Cleft palate, Increas...	OMIM:253290
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br...	OMIM:180500
Xq28 (MECP2) duplication	Depressed nasal bridge, Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Narrow mo...	DECIPHER:45
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ri...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ri...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ri...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ri...	ORPHA:93924
Arterial Tortuosity Syndrome	Arachnodactyly, Long palm, Craniosynostosis, Hiatus hernia, Rocker bottom foot, Pyloric stenosis,...	ORPHA:3342
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare...	OMIM:619879
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Esophageal atresia, Short thumb...	OMIM:192350
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Oculocerebral Hypopigmentation Syndrome, Cross Type	Dandy-Walker malformation, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Dolichocepha...	ORPHA:2719
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:619426
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contractu...	OMIM:300232
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Block vertebrae, Cleft upper lip, Hypoplasia of the maxill...	OMIM:164210
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft palate, Cleft upper lip	OMIM:607371
Dominant Beta-Thalassemia	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality ...	ORPHA:231226
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Polydactyly, Short finger, Agenesis of corpus call...	OMIM:182230
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys...	OMIM:118650
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal deformities...	OMIM:253000
Kabuki Syndrome 2	Joint laxity, Natal tooth, Broad nasal tip, Micrognathia, Microcephaly, Lower lip pit, Dental mal...	OMIM:300867
Duplication Of The Pituitary Gland	Encephalocele, Abnormality of joint mobility, Microcephaly, Supernumerary tooth, Abnormality of t...	ORPHA:314621
Diamond-Blackfan Anemia	Depressed nasal bridge, Cleft soft palate, Micrognathia, Microcephaly, Cleft lip, Short thumb, Ab...	ORPHA:124
46,Xy Sex Reversal 4	Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Depressed nasal ridge, Clef...	OMIM:154230
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge, Microcephaly	OMIM:200130
Cockayne Syndrome B	Mandibular prognathia, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the h...	OMIM:133540
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno...	ORPHA:769
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath...	ORPHA:447788
Kleefstra Syndrome 2	Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula	OMIM:617768
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Aganglionic megacolon, Prominent n...	ORPHA:220493
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Axonal degeneration, Talipes equinovarus	OMIM:616155
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc...	OMIM:617360
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized joint laxity, Brachycephaly, High palate, Long philtrum, Microretrognathia, Joint lax...	OMIM:601776
Lymphedema-Distichiasis Syndrome	Microphthalmia, Micrognathia, Cleft palate, Cleft upper lip	OMIM:153400
Meier-Gorlin Syndrome 4	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Thick lower lip vermilion,...	OMIM:613804
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental mo...	ORPHA:3474
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
22Q11.2 Deletion Syndrome	Micrognathia, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Spina bifida, Cr...	ORPHA:567
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long...	OMIM:151210
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Ch...	OMIM:280000
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Overtubulated long bones, Short cla...	OMIM:619793
Khan-Khan-Katsanis Syndrome	Frontal bossing, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Postaxial polydactyly,...	OMIM:618460
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly...	OMIM:608013
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ...	ORPHA:2437
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i...	OMIM:259440
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri...	OMIM:253010
Coffin-Siris Syndrome 12	Micrognathia, High palate, Hippocampal atrophy, Joint laxity, Anteverted nares, Facial palsy, Dep...	OMIM:619325
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Optic atrophy, Narrow palate, Plagiocephaly, Talipes equinovarus, Hypoplasia of the...	OMIM:617481
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Finger syndactyly, Abnormal dental morphology, Abn...	ORPHA:464
Cat Eye Syndrome	Preauricular pit, Anal stenosis, Intestinal malrotation, Rectal fistula, Micrognathia, Preauricul...	OMIM:115470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Familial Visceral Myopathy	Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Camptodactyly of f...	ORPHA:2604
Houge-Janssens Syndrome 3	Frontal bossing, Single transverse palmar crease, Broad nasal tip, Microcephaly, Plagiocephaly, H...	OMIM:618354
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Brachycephaly, Downturned corners of mouth...	ORPHA:199
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Aganglionic megacolon, Prominent n...	ORPHA:220497
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ...	ORPHA:93
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Agenesis of corpus callosum, ...	ORPHA:2538
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ...	OMIM:225790
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab...	ORPHA:2876
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Single transverse palmar crease, Prominent ...	OMIM:150230
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Thoracic hypoplasia, Bowing of the legs, L...	OMIM:100800
Nephronophthisis 15	Polydactyly	OMIM:614845
Kapur-Toriello Syndrome	Intestinal malrotation, Preauricular skin tag, Bulbous nose, Orofacial cleft, Retinal coloboma, M...	ORPHA:2328
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Microcephaly, Cleft...	OMIM:618348
White-Sutton Syndrome	Joint laxity, Thin upper lip vermilion, Midface retrusion, Depressed nasal bridge, Broad nasal ti...	ORPHA:468678
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Cryptorchidism, Non-midline cleft lip, Preaxial hand ...	ORPHA:887
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Abnormal midface morphology, Recurrent fractures, Aplastic clavicle, Promi...	ORPHA:2769
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Bulbous nose, 2-3 toe sy...	OMIM:620025
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Frontal bossing, Dental crowding, Broad hallux, Sandal gap, ...	OMIM:616078
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia	OMIM:601809
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin seq...	OMIM:183900
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Single naris, Megalopapilla,...	OMIM:615636
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Preauricular pit, Frontal bossing, Increased bone mineral density, Micrognathia, Coloboma, Osteop...	OMIM:617306
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morp...	OMIM:274000
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Rod-cone dystrophy	ORPHA:96181
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Beta-Thalassemia Major	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality ...	ORPHA:231214
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Microcephaly, Corpus callos...	OMIM:619244
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Microcephaly, Cryptorchidis...	OMIM:614225
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Aganglionic megacolon, Microcephaly, Wide nasal bridge, Cleft palate, Hypoplas...	ORPHA:66629
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Rhizomelia, Abnormality of the hand, Dolichocephaly, Microcephaly, Tape...	ORPHA:319182
Dermotrichic Syndrome	Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Short nose	ORPHA:99688
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate...	OMIM:619074
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Microcephaly, Brachycephaly, Cerebral atrophy, Wide m...	OMIM:103050
Jacobsen Syndrome	Agenesis of corpus callosum, Long hallux, Iris coloboma, Abnormality of the anus, Broad columella...	ORPHA:2308
3M Syndrome	Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:2616
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,...	OMIM:612284
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Microcephaly, Tapered finger, Thick lower lip vermilio...	ORPHA:261652
Rothmund-Thomson Syndrome Type 2	Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Ge...	ORPHA:221016
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short philtrum, Microd...	ORPHA:2044
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Esophageal a...	OMIM:619859
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Brachycephaly, High palate, Short philtrum, Long toe, Ant...	ORPHA:3063
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli...	ORPHA:1848
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef...	OMIM:301091
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange...	ORPHA:73230
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Cleft palate, Short philtrum,...	ORPHA:261190
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Cleft lip, Cleft...	ORPHA:91412
Microphthalmia, Syndromic 13	Microcephaly, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors	OMIM:300915
Xylt1-Cdg	Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion borde...	ORPHA:370930
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Duplication of the distal phalanx of th...	OMIM:180750
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the e...	ORPHA:85276
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Cleft palate, Palmar hyperlinearity, Concave nasal ridge, Short philtrum	OMIM:617337
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Microcephaly, Short nose, Optic atrophy, Talipes equinov...	OMIM:617988
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Macrodontia, Sandal gap, Microcephaly, Cryptorchidism, Brachycephaly,...	ORPHA:228402
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:619503
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Joint stiffness, Microcephaly, Flexion con...	OMIM:609069
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosy...	ORPHA:369837
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Caudate atrophy, Temporomandibular joint ...	ORPHA:2388
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Micrognathia, Microce...	ORPHA:1587
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Microme...	OMIM:610682
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Joint stiff...	ORPHA:2746
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormality of the wris...	ORPHA:1657
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Small hand, Fibular hypop...	ORPHA:444077
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In...	ORPHA:2729
Chromosome 3Q29 Duplication Syndrome	Microcephaly, Abnormally large globe, Bulbous nose, Wide nasal bridge, Multiple palmar creases, S...	OMIM:611936
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt...	ORPHA:313855
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ...	ORPHA:353253
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Diastema, Cryptorchidism...	ORPHA:329224
Chromosome 1P36 Deletion Syndrome, Proximal	Frontal bossing, Anteverted nares, Micrognathia, Bifid nasal tip, Cleft lip, Microcephaly, Cleft ...	OMIM:619343
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Optic disc coloboma, High pala...	OMIM:300472
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal sept...	OMIM:302950
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Supernu...	OMIM:617088
Chops Syndrome	Anteverted nares, Microcephaly, High, narrow palate, Cryptorchidism, Optic atrophy, Downturned co...	OMIM:616368
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel anomaly, Anal atresia	OMIM:601389
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Joint stiffness, Wide nasa...	ORPHA:2062
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Oculogastrointestinal Neurodevelopmental Syndrome	Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia, Low ha...	OMIM:619318
Isolated Childhood Apraxia Of Speech	High, narrow palate, Caudate atrophy, Submucous cleft hard palate	ORPHA:209908
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb,...	OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Micrognathia, Microcephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of ...	OMIM:253280
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Deep philtrum, Short philtrum, High palate, Clinodactyl...	OMIM:300855
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atresia, Radial dy...	OMIM:617244
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Widely space...	OMIM:619539
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:261537
Pentalogy Of Cantrell	Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Abnormal tibia morphology, Clef...	ORPHA:1335
Hypertelorism-Microtia-Facial Clefting Syndrome	Microcephaly, Bifid nasal tip, Thenar muscle atrophy, Bifid nose, Median cleft lip and palate	ORPHA:2213
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Dyskeratosis Congenita	Esophageal stenosis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Malabsorpt...	ORPHA:1775
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosynostosis, Increased suscept...	OMIM:241500
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Midface retrusion	OMIM:615849
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Prominent nasal bridge, Micrognathia, High palate, Short philtrum, Radial deviation of finger, Ma...	OMIM:609944
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Brachycephaly, Abnormal op...	ORPHA:96121
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Downturned corners of mouth, Short philtrum, Premature loss of...	ORPHA:3455
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,...	OMIM:612921
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Flat occiput, Dental crowding, Chorioretinal dysplasia, Micrognathia, Deep...	ORPHA:534
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle ...	OMIM:302960
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent nose, Brachycepha...	ORPHA:480880
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Cryptorchi...	OMIM:620005
D-Glyceric Aciduria	Single transverse palmar crease, Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:220120
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Pyloric stenosis, Hydroce...	ORPHA:2461
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Anosmia, Cleft palate, Genu valgum, Decreased testicula...	OMIM:614880
Deeah Syndrome	Overlapping fingers, Malabsorption, Cryptorchidism, Narrow palate, High palate, Short philtrum, N...	OMIM:619004
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Usher Syndrome, Type Ig	Rod-cone dystrophy, Hypoplasia of the nasal bone	OMIM:606943
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Joi...	OMIM:618820
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Dolichocephaly, Microcephaly, Cryptorch...	ORPHA:2990
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Microcephaly, Hydrocephalus, Optic atrophy, Esophageal varix, Cerebral atr...	OMIM:614576
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M...	OMIM:617914
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Joint stiffness, Microcephaly, Elbow dislocation, Metatarsus a...	ORPHA:2557
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Communicating hydrocephalus, Osteopenia, Brachycephaly, Cortical thickenin...	ORPHA:309282
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p...	OMIM:619127
Alagille Syndrome	Frontal bossing, Hypoplasia of the ulna, Micrognathia, Long nose, Cryptorchidism, Brachycephaly, ...	ORPHA:52
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D...	ORPHA:3044
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Hip dislocation, Optic nerve hypoplasia	ORPHA:572013
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Unilateral cryptorchidism, Midface retrusion, Cleft palate, Micrognathia	OMIM:300946
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, ...	ORPHA:2962
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Thin vermilion border,...	OMIM:619869
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Hi...	OMIM:619472
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Bulbous nose, Coloboma, Cerebellar hypoplasia, Hypoplasia o...	OMIM:617695
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2...	OMIM:614099
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, High palate, Foot oligod...	OMIM:276820
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:2152
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Spondylo-Ocular Syndrome	Preauricular pit, Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperfl...	ORPHA:85194
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:261552
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Double Outlet Right Ventricle	Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco...	ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, ...	OMIM:616430
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent...	ORPHA:974
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia	ORPHA:65288
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Diffuse cerebral atrophy, Micrognathia, Microcephaly, Optic atrophy, Plagiocepha...	OMIM:617193
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm...	ORPHA:2907
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Yunis-Varon Syndrome	Flat occiput, Cerebellar vermis hypoplasia, Congenital hip dislocation, Single transverse palmar ...	OMIM:216340
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Noonan Syndrome 3	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorch...	OMIM:609942
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Depressed nasal bridge, Optic atrophy, Brachycephaly, Coloboma, Mic...	OMIM:612379
Chromosome 15Q25 Deletion Syndrome	Flat occiput, Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Long fingers, Cleft pa...	OMIM:614294
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb, Microcephaly	OMIM:619239
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, Pectus excavatum, Hydrocephalus, Thin ribs, H...	OMIM:616294
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse...	ORPHA:93352
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal...	ORPHA:397715
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Microcephaly, Aplasia of the nose, Cerebellar hypoplasia, Mi...	OMIM:236100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Tapered finger, Cleft lip, Hip dislocation, Cleft palate, Full cheeks, Ge...	OMIM:301066
Joubert Syndrome 23	Polydactyly	OMIM:616490
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Holopr...	ORPHA:563612
Ring Chromosome 13 Syndrome	Frontal bossing, Aplasia/Hypoplasia of the thumb, Anteverted nares, Depressed nasal bridge, Abnor...	ORPHA:96176
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long philtrum, Microphthalmia, 3-4 finger...	OMIM:615877
Buratti-Harel Syndrome	Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pal...	OMIM:619314
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Facial palsy, Shoulder flexio...	OMIM:617114
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ...	ORPHA:1486
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Microlissencephaly-Micromelia Syndrome	Micromelia, Adducted thumb, Secondary microcephaly, Cerebellar hypoplasia, Long philtrum, Short n...	ORPHA:50810
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha...	OMIM:603116
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Exaggerated cupid's bow, Overlapping toe, Single transverse palmar crease...	ORPHA:254528
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Underdeveloped nasal alae, Micrognathia, Abnorma...	ORPHA:435628
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Hand polydactyly, Platybasia, Mid...	ORPHA:261197
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Branchiootic Syndrome	Preauricular pit, Branchial fistula, Facial palsy, Lip pit, Micrognathia, Cleft palate, Preauricu...	ORPHA:52429
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly, High, narrow palate, S...	ORPHA:2714
Naxos Disease	Palmoplantar keratoderma, Cleft upper lip	ORPHA:34217
Opsismodysplasia	Short palm, Frontal bossing, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomel...	OMIM:258480
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ...	OMIM:617022
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Midface retrusion, Bifid uvula, Cleft palate, Micrognathia	OMIM:606164
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Depressed nasal bridge, High palate, Wide nasal bridge	OMIM:110100
Geleophysic Dysplasia 1	Osteopenia, Short palm, Anteverted nares, Camptodactyly of finger, Joint stiffness, Coxa valga, H...	OMIM:231050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl...	OMIM:619522
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Plagiocephaly, Everted lower ...	OMIM:616579
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Parietal bossing, ...	OMIM:264090
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft upper lip, Microcephaly, Cleft palate, Talipes equinovarus, ...	OMIM:100300
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Micrognathia, Short toe, Preaxial hand p...	OMIM:620072
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion	OMIM:612247
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Knee flexion co...	OMIM:603387
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Brachycephaly, Hypoplasia of th...	OMIM:218350
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Phosphoribosylpyrophosphate Synthetase Superactivity	Peripheral axonal neuropathy, Depressed nasal bridge, Cryptorchidism, Gout, Wide mouth, High pala...	OMIM:300661
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Choanal atresia, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasti...	OMIM:300712
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Micrognathia, Wide anterior fontanel...	OMIM:618548
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Hypoplasia of the corpus callosum, Narrow mouth, Shor...	OMIM:613735
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Malabsorption, Glossoptosis, Arthritis	ORPHA:47
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Full cheeks, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Mi...	OMIM:618268
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Cleft palate...	OMIM:619123
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Tracheoesophage...	ORPHA:3068
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Thorac...	OMIM:614376
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr...	ORPHA:289266
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Coach Syndrome 1	Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Antevert...	OMIM:216360
Braddock Syndrome	Pectus excavatum, Preaxial hand polydactyly, Micrognathia, Missing ribs	ORPHA:52047
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Underdeveloped nasal alae, Micrognathia, Abnorma...	OMIM:614098
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Plagiocephaly, Hypodontia, Narrow mou...	ORPHA:1973
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Joint hypermobility, Microcephaly, Ca...	OMIM:619229
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Gen...	OMIM:616268
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Asymmetry of th...	ORPHA:1521
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Kabuki Syndrome	Orofacial cleft, Coloboma, High palate, Widely spaced teeth, Microdontia, Abnormal dental morphol...	ORPHA:2322
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology, Ethmoidal encephalocele	ORPHA:280195
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur...	OMIM:265000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Craniosynostosis, Tarsal synostosis, Microc...	OMIM:178110
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Cranial as...	OMIM:163200
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda...	ORPHA:959
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Abnorma...	ORPHA:2522
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Frontal bossing, Short nose, Micrognathia	OMIM:266810
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Tongue fasciculations, Intrinsic hand muscle atrophy	OMIM:620285
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Aniridia-Intellectual Disability Syndrome	Aniridia, Optic nerve hypoplasia	ORPHA:1068
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Microgna...	OMIM:601803
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Full cheeks, Axonal lo...	OMIM:252160
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, Coloboma, Short philtrum, High palate, Chor...	OMIM:619475
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide mouth, Broa...	ORPHA:1517
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Colobom...	OMIM:613153
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Brachycephaly, Wide mouth, Hydrocele testis, Thick vermilion...	ORPHA:85290
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Hydrocephalus, Flexion contracture, Optic a...	ORPHA:505248
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Optic disc pallor, Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Ch...	OMIM:251270
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal brid...	OMIM:193500
Pterygium Colli, Isolated	Short nose	OMIM:177990
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossific...	OMIM:618395
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Restrictive Dermopathy	Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Choa...	ORPHA:1662
Acromesomelic Dysplasia 1	Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo...	OMIM:602875
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Cryptorchidism,...	OMIM:235730
Marfan Syndrome	Osteopenia, Retinal detachment, Arthralgia/arthritis, Dental crowding, Arachnodactyly, Limited el...	ORPHA:558
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus	OMIM:217100
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar cre...	OMIM:609128
Geleophysic Dysplasia 2	Short palm, Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Full cheeks,...	OMIM:614185
Rodrigues Blindness	Narrow nasal bridge, Microphthalmia, Tooth malposition	OMIM:268320
Bor Syndrome	Branchial cyst, Facial palsy, Cleft palate, Preauricular skin tag, Retrognathia	ORPHA:107
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Severe generalized osteoporosis, Micrognathia, Hypopla...	OMIM:210730
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persis...	ORPHA:93325
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Congenital Myopathy 13	Micrognathia, Microcephaly, Cryptorchidism, Flexion contracture, Brachycephaly, Cleft palate, Dow...	OMIM:255995
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Choanal atresia, Roc...	ORPHA:163979
Cockayne Syndrome	Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, A...	ORPHA:191
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Persistence of primary teeth, ...	ORPHA:2785
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology	ORPHA:290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Under...	ORPHA:83617
Matthew-Wood Syndrome	Cryptorchidism, Microphthalmia, Anophthalmia, Duodenal stenosis	ORPHA:2470
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po...	ORPHA:99956
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Dolichocephaly, Tapered ...	OMIM:619480
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Epistaxis, Single transverse palmar crease, Microcephaly, Cryptorchidism, Bulbous nose...	ORPHA:495818
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac...	ORPHA:3310
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Faundes-Banka Syndrome	Thin upper lip vermilion, Frontal bossing, Micrognathia, Underdeveloped nasal alae, Cryptorchidis...	OMIM:619376
Lymphedema-Distichiasis Syndrome	Cleft palate, Cleft upper lip	ORPHA:33001
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Hydrocephalus, ...	OMIM:613686
Cadds	Short nose, Micrognathia	ORPHA:369942
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Submucous cleft hard palate, Flexion contracture, Cerebral atrophy, Hypoplasia of t...	OMIM:618891
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Und...	OMIM:618188
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate, Single transverse palmar crease	OMIM:619053
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Widely spaced tee...	ORPHA:466791
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ...	ORPHA:522077
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Microcephaly, Cerebral atrophy, Full cheeks, Axonal loss, Thick vermilion border...	OMIM:252150
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate, Micrognathia	OMIM:243440
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Phthisis ...	OMIM:612109
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus	ORPHA:858
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:617563
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Retinal detachment, Conical tooth, Microcepha...	OMIM:308300
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Limited elbow movement, Cryptorchidism, Depressed nasal ...	OMIM:151100
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Isotretinoin-Like Syndrome	Anteverted nares, Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Preauricular skin tag	ORPHA:2306
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Hand oligodactyly, Optic nerve hypoplasia	ORPHA:45358
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip	OMIM:273400
Dend Syndrome	Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho...	ORPHA:79134
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Early ossification of capital fem...	OMIM:208500
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Cryptorchidism, Clinodactyly, ...	ORPHA:1724
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Coloboma, High palate, Joint laxity, Syndactyly, Broad hallux, Cry...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Coloboma, High palate, Joint laxity, Syndactyly, Broad hallux, Cry...	ORPHA:353277
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ...	ORPHA:63259
Giant Cell Arteritis	Epistaxis, Joint stiffness, Recurrent pharyngitis, Optic atrophy, Arthritis, Glossitis	ORPHA:397
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr...	ORPHA:89842
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	OMIM:615771
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar...	OMIM:606519
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Mic...	OMIM:309350
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Bowing of the long bones, Coloboma, Chorioretinitis, Hypoplas...	ORPHA:199276
Congenital Fibrinogen Deficiency	Clubbing of fingers, Gingival bleeding, Microphthalmia, Volvulus, Decreased testicular size	ORPHA:335
Diamond-Blackfan Anemia 10	Malar flattening, Choanal atresia, Cleft palate, Micrognathia	OMIM:613309
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Optic atroph...	OMIM:608688
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h...	OMIM:200980
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Malabsorption, P...	ORPHA:565
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Kbg Syndrome	Short palm, Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Anteverted nar...	OMIM:148050
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Abnormal ri...	ORPHA:2970
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Oxycephaly, Hypoplas...	OMIM:200995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microcephaly, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of...	OMIM:615249
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism...	OMIM:619718
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Microdontia, Clinodactyly of the 5th finger, Jo...	OMIM:194050
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e...	OMIM:610168
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Osteoporosis, Genu valgum, Increased...	OMIM:612199
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i...	OMIM:257980
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Micrognathia, Hydrocephalus, Abnormal rib morphology, Tracheoesophageal fistula, Gi...	ORPHA:1834
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Microphthalmia, Abnormality of the dentition	ORPHA:1806
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Microcephaly, Submucous cleft hard palate, Bifid uvula, Spinal dysraphism	OMIM:617660
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, A...	ORPHA:93473
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Umbilical hernia, Talipes equinovarus, Cleft soft palate	OMIM:614557
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Brachydactyly, Aganglionic megacolon, Dental...	OMIM:209900
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Facial palsy, Tongue fasciculations, Cranial nerve motor loss	OMIM:211530
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia, Global brain atrophy, Microcephaly	OMIM:308350
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Tapered finger, Cryptorchidism, Shor...	OMIM:616728
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Deafness, X-Linked 7	Unilateral microphthalmos, Wide nasal bridge	OMIM:301018
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Brachycephaly, Coxa vara, Inc...	OMIM:610968
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Cleft lip, Brachycephaly, Cleft palate, Narrow palate, D...	OMIM:618223
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Coloboma, Joint laxity, Broad hallux, Cryptorchidism, Supernumerary tooth, Talon...	ORPHA:353281
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Diastema, Open bite, Genu valgum, Hip dysplasia, Broad ribs, Wid...	OMIM:619698
Radio-Renal Syndrome	Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow...	ORPHA:3015
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Microcephaly, Tapered finger, Flexion contract...	OMIM:301072
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate, Microcephaly	OMIM:257910
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Kabuki Syndrome 1	Preauricular pit, Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Joint hyperm...	OMIM:147920
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn...	OMIM:609192
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Hardikar Syndrome	Preauricular pit, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Os...	OMIM:301068
Otoonychoperoneal Syndrome	Abnormal diaphysis morphology, Flexion contracture, Knee flexion contracture	ORPHA:2793
Familial Benign Copper Deficiency	Deep philtrum, Diaphyseal thickening, Aplasia/Hypoplasia of the fovea	ORPHA:1551
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:2519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology	ORPHA:2483
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Carious teet...	ORPHA:90324
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
6Q Terminal Deletion Syndrome	Joint laxity, Hallux valgus, Micrognathia, High, narrow palate, Plagiocephaly, Thick vermilion bo...	ORPHA:75857
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate fu...	OMIM:304150
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen...	OMIM:106210
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl...	OMIM:617666
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Osteoporosis, Concave na...	OMIM:619525
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate	OMIM:600460
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Choanal atresia, Intestinal malrotation, Optic disc coloboma, Cleft palate, Rectovaginal fistula,...	OMIM:270420
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anu...	OMIM:309801
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia...	ORPHA:79255
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T...	ORPHA:466768
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Retinal vascular malformation, Cerebellar hy...	ORPHA:42775
Mucopolysaccharidosis Type 7	Joint stiffness, Metatarsus adductus, Epiphyseal stippling, Enlarged thorax, Abnormal hip bone mo...	ORPHA:584
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Psoriasis 14, Pustular	Oligoarthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hydrocephalus	OMIM:601794
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly, Long fibula, Joint laxity, Depressed nasal bridge, Flat acetabular roof, Irregular...	OMIM:610442
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Cleft palate, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnorma...	OMIM:118100
Choanal Atresia	Craniosynostosis, Nasal congestion, Polydactyly, Tracheomalacia, Chronic sinusitis	ORPHA:137914
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death,...	OMIM:613730
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, Preauricular pi...	OMIM:107480
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort...	ORPHA:488434
Hydranencephaly	Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Primary microcephaly, Cerebral cortica...	ORPHA:2177
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Esophageal atresia, Short thumb, Cryptorchidism, Preaxial hand polyd...	OMIM:227646
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Pigmentary retino...	ORPHA:79282
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Multiple joint contractures, Narrow nasal tip, Prominent nasal ...	ORPHA:464306
Hemimegalencephaly	Cranial asymmetry, Optic atrophy	ORPHA:99802
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Aprosencephaly, Retinal dysplasia, Talipes equinovarus, Bifid uvula	OMIM:601374
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Aganglionic megacolon, Short palm, Short nose, Agenesis of corpus callosum, Bra...	ORPHA:3339
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Metaphyseal widening, Phthisis bulbi, Osteo...	OMIM:259770
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Thick lower lip vermilion, Broad ischia, Phthisis bulbi,...	OMIM:619727
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Dental ma...	ORPHA:1855
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Choanal atresia, Cleft lip, Pyloric stenosis, Clinodac...	ORPHA:1199
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Tooth abscess, Bowing of the legs	ORPHA:89937
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Long philtrum, Microphthalmia, Iris coloboma	OMIM:615145
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis, Cerebral cortica...	ORPHA:37
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Narrow mouth, Gingival overgrowth, Macroglossia, Abnorm...	ORPHA:354
Norrie Disease	Narrow nasal bridge, Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid ...	ORPHA:649
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Fanconi Anemia, Complementation Group F	Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro...	OMIM:603467
Aspartylglucosaminuria	Joint laxity, Depressed nasal bridge, Anteverted nares, Microcephaly, Thick lower lip vermilion, ...	OMIM:208400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Abnormal rib morphology, Decreased testicular size	ORPHA:2234
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ...	ORPHA:79408
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Osteopetrosis, Autosomal Recessive 8	Frontal bossing, Facial palsy, Optic atrophy, Unilateral microphthalmos, Osteopetrosis	OMIM:615085
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost...	OMIM:616507
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Agenesis of corpus callosum, Congenit...	ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Hypoplasia of the pyramidal tract, Hydrocephalus, Flexion cont...	OMIM:253800
Campomelia, Cumming Type	Bowing of the long bones	OMIM:211890
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Cubitus valgus, Metatarsus adductus, Premature os...	OMIM:611962
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Abnormal rib morphology	ORPHA:2578
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Bulbous nose, Brachycephaly, Anteriorly placed anus, Widely-spaced maxill...	OMIM:608980
Generalized Pustular Psoriasis	Arthritis, Geographic tongue, Cheilitis	ORPHA:247353
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contra...	ORPHA:217085
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contra...	ORPHA:217093
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Wrist swelling, Cryptorchidism, Rickets, Hip dislocation, ...	OMIM:309000
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Depressed nasal bridge, Postaxial polydactyly	OMIM:615824
Aspergillosis	Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Abnormal esophagus morphology	ORPHA:1163
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly	ORPHA:77299
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr...	OMIM:613795
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Agel Amyloidosis	Tongue atrophy, Xerostomia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Microsporidiosis	Sinusitis, Rhinitis, Glossitis, Osteomyelitis	ORPHA:2552
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Malabsorption, Avascular necrosis of the...	ORPHA:581
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Cryptorchidism, Short thumb, Microphthalmia, Complete duplication of...	OMIM:600901
Multiple Endocrine Neoplasia Type 2	Joint laxity, Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, A...	ORPHA:653
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Cowden Syndrome	Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, Colo...	ORPHA:201
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Cryptorchidism, Short thumb, Flexion contracture, Microphthalmia, Co...	OMIM:227645
Townes-Brocks Syndrome	Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Cryptorchidism, Preaxial hand polyda...	ORPHA:857
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Mecke...	ORPHA:1666
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Increased bone mineral density, Thickened cortex of long bones, Abnormality of th...	OMIM:127000
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Cryptorchidism, Short thumb, Microphthalmia, Complete duplication of...	OMIM:227650
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cryptorchidism	ORPHA:363741
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Diarrhea 10, Protein-Losing Enteropathy Type	Micrognathia, Cryptorchidism, Recurrent upper respiratory tract infections, Coloboma, Protein-los...	OMIM:618183
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cerebellar hypoplasia	OMIM:618805
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Single transverse palmar crease, Decreased nerve conduction velocity, Optic at...	OMIM:614863
Sacral Defect With Anterior Meningocele	Myeloschisis, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus t...	OMIM:600145
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Preaxial hand polydactyly, Clinodactyly of the 5th finger, Contractures...	ORPHA:96179
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Kawasaki Disease	Recurrent pharyngitis, Glossitis, Cheilitis, Arthritis	ORPHA:2331
Papillorenal Syndrome	Joint laxity, Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc co...	OMIM:120330
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Cloverleaf skull, Depres...	OMIM:201750
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalu...	ORPHA:3042
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Thauvin-Robinet-Faivre Syndrome	Bowing of the legs, Long hallux, Macroglossia, Coloboma, Large hands, Retinal coloboma, Thick ver...	OMIM:617107
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Frontal bossing, Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial poly...	OMIM:619534
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Flexion contracture, Cerebellar hypoplasia, Retinopathy	OMIM:617562
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Abnormal mitochondrial shape, Short femur, Microcephaly, Flexion contracture, Cere...	ORPHA:17
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Hydrocephalus, Microphthalmia	OMIM:613001
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Carney Complex	Neoplasm of the stomach, Testicular neoplasm, Esophageal neoplasm, Schwannoma, Testicular adrenal...	ORPHA:1359
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Linear Nevus Sebaceus Syndrome	Frontal bossing, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Plagiocephaly, Bip...	ORPHA:2612
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Septo-optic dysplasia	ORPHA:95496
Cardiac Diverticulum	Umbilical hernia, Aplasia/Hypoplasia of the sternum	ORPHA:1686
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Abnormal sternum morphology, Diaphyseal dysplasia	ORPHA:137605
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnormal rib morphology, ...	ORPHA:991
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Narrow nasal ridge, Pigmentary retinopathy, Sunken cheeks, Narrow mouth,...	OMIM:606721
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Proximal Renal Tubular Acidosis	Reduced bone mineral density, Coloboma, Enamel hypomineralization, Malabsorption	ORPHA:47159
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Bilateral tali...	ORPHA:49
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microph...	OMIM:610651
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest...	ORPHA:707
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr...	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger	OMIM:118450
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Gastrointestinal stroma tumor, Osteoporosis, Osteolysis, Diaphyse...	ORPHA:97685
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Peripap...	OMIM:175780

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 Tmem107

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 Tmem107.

No publications found that use IMPC mice or data for Tmem107.

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
Tmem107^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmem107^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Tmem107^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tmem107^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice

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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