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Gene: Kdf1 MGI:1916323

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

keratinocyte differentiation factor 1

Synonyms:

1810019J16Rik

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 Kdf1 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 Kdf1 (2 diseases)
Human diseases predicted to be associated with Kdf1 (1135 diseases)

The table below shows human diseases associated to Kdf1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type		Natal tooth, Subungual hyperkeratosis, Eczema, Cleft palate, Concave nasal ridge, Short philtrum,...	OMIM:617337
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia		Abnormal dental morphology, Eczema, Premature loss of primary teeth, Abnormality of the dentition...	ORPHA:1810

The table below shows human diseases predicted to be associated to Kdf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den...	ORPHA:178303
Costello Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Red...	ORPHA:3071
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Clinodactyly, Short nose	OMIM:300577
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa...	ORPHA:217340
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres...	ORPHA:1248
Lamellar Ichthyosis	Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Eve...	ORPHA:313
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef...	ORPHA:2015
Ring Chromosome 8 Syndrome	Anteverted nares, Polyhydramnios, Deviation of finger, Round ear, Short nose, Abnormal palate mor...	ORPHA:1450
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Redundant skin, Narrow nasal ridge, Bulbous nose, Lack of skin elastici...	OMIM:612940
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exag...	ORPHA:261120
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Werner Syndrome	Miscarriage, Convex nasal ridge, Rocker bottom foot, Small hand, Lack of skin elasticity, Skin ul...	ORPHA:902
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand...	OMIM:617752
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnormal palate morphology, Brachyda...	ORPHA:1277
Huriez Syndrome	Dry skin, Lack of skin elasticity, Palmoplantar keratoderma	ORPHA:384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Lack of skin ela...	OMIM:615381
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Death in infancy, Necrotizing enterocolitis, Toe syndactyly, Depressed nasal bridge, Anteverted n...	OMIM:616809
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Lack of skin elasticity, Palmoplantar keratoderma, Narrow mouth, Convex nasal ridge	ORPHA:1979
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Neu-Laxova Syndrome	Abnormality of the philtrum, External genital hypoplasia, Polyhydramnios, Micromelia, Micrognathi...	ORPHA:2671
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo...	ORPHA:1355
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Depressed nasal bridge, Sandal gap, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Bulbo...	OMIM:300354
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism, High pal...	ORPHA:1695
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Gingival fibroma...	ORPHA:1832
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Polyhydramnios, Micrognathia, Cry...	OMIM:618393
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Pallister-Hall-Like Syndrome	Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Micrognat...	OMIM:241800
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Hypospad...	OMIM:619736
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, High palate, Low-set ears, Narrow mouth, Clinodactyly of the 5th ...	ORPHA:217385
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Pierpont Syndrome	Smooth philtrum, Wide nose, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Short toe,...	OMIM:602342
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Microgn...	OMIM:613604
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,...	ORPHA:1716
Acromicric Dysplasia	Short palm, Short metacarpal, Brachydactyly, Anteverted nares, Bulbous nose, Thick lower lip verm...	ORPHA:969
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Hearing impairment, Micrognathia, Capitate-hamate fusion, Sho...	OMIM:614078
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calc...	ORPHA:163966
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel...	ORPHA:93329
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Low-set ears, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal...	OMIM:619312
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Leri Pleonosteosis	Camptodactyly of finger, Abnormal finger morphology, Lack of skin elasticity, Abnormal metacarpal...	ORPHA:2900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide mou...	OMIM:618506
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Missing ribs, Esophage...	OMIM:619859
Lipoid Proteinosis	Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thic...	ORPHA:530
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Large earlobe, Thin vermilion bor...	OMIM:617991
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Abnormal an...	ORPHA:2145
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radi...	ORPHA:1388
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di...	OMIM:155050
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Cl...	OMIM:256050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Thin vermilion border, Narrow ...	ORPHA:2370
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Protruding ear, Gastroesophageal reflux,...	ORPHA:1495
Geleophysic Dysplasia 1	Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Lack of skin elasticity, Hypop...	OMIM:231050
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Micrognathia, Bilateral crypto...	OMIM:613544
Perlman Syndrome	Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palat...	ORPHA:2849
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkl...	ORPHA:758
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,...	ORPHA:1703
Lethal Recessive Chondrodysplasia	Micromelia, Polyhydramnios, Edema, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb unde...	ORPHA:1423
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downtu...	OMIM:601224
Acrodysostosis	Micromelia, Depressed nasal ridge, Short metatarsal, Hypoplasia of the ulna, Short metacarpal, An...	ORPHA:950
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Depressed ...	OMIM:616331
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne...	OMIM:613443
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, M...	OMIM:614744
Antisynthetase Syndrome	Skin rash, Edema, Pruritus, Xerostomia, Lack of skin elasticity, Dysphagia	ORPHA:81
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognath...	ORPHA:93328
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes ...	OMIM:613885
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal distal phalanx morphology of ...	ORPHA:1387
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Broad hallux, Wide n...	OMIM:618529
Orofaciodigital Syndrome Xv	Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Thickened helices, Broad metatarsal, Short metatarsal, ...	OMIM:608328
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic...	OMIM:614669
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Anteverted nares, Arachnodactyly, Micromelia, Sandal gap, Genu...	ORPHA:1035
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Micrognathia	ORPHA:141152
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Dysplasia of the femoral head, Microti...	OMIM:616854
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Overfolded ...	ORPHA:2631
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Micrognathia, Hydrops fetalis, Large fleshy ears, Micropenis, Anteverted nares, H...	OMIM:616897
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Macrotia, Smooth phi...	ORPHA:438178
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft...	OMIM:612913
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Oligodontia, Pa...	ORPHA:363417
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Microphthalmia With Limb Anomalies	Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Erythema, Wide nasal bridge, Thin vermilion...	OMIM:610015
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Long penis, Cleft palate, Or...	ORPHA:1988
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Acrocephalopolydactyly	Depressed nasal ridge, Microtia, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Whistling appearance, Ulnar devi...	OMIM:277720
Peho-Like Syndrome	Open mouth, Short nose, Edema, Tapered finger	OMIM:617507
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, H...	ORPHA:171839
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Cryptorchidism, Postaxial hand polyda...	ORPHA:1702
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi...	ORPHA:166272
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Bowing of the long bones, Depressed nasal bridge, Camptodactyl...	ORPHA:628
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Hearing impairment, Broad nasal tip, Thick lower lip vermilion, Wide n...	OMIM:619451
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Polyhydramnios, Micrognathia, Symphalangism affecti...	ORPHA:2547
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Broad hallux phalanx, Toe clinodactyly, Anteverted nares, Prominent na...	ORPHA:251019
Atelosteogenesis Type Ii	Polyhydramnios, Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic...	ORPHA:56304
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Bilateral tripha...	OMIM:619356
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Hearing impairment, Abnormality of the dentition, Lack of sk...	ORPHA:90153
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Attached earlobe, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverte...	ORPHA:1327
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Cleft p...	OMIM:615524
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space...	OMIM:300882
Baralle-Macken Syndrome	High, narrow palate, Striae distensae, Tapered finger	OMIM:619255
Miller-Dieker Syndrome	Anteverted nares, Polyhydramnios, Abnormal upper lip morphology, Clinodactyly of the 5th finger, ...	ORPHA:531
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Intestinal malrotation, Short th...	ORPHA:401935
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Polyhydramnios, Underdeveloped nasal alae, Congenital pyloric atresia, Microtia...	OMIM:612138
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Prominent nose, Short philtrum, Gastroesophageal reflux, Long toe, Depressed nasal bridge, Anteve...	OMIM:618316
Coffin-Siris Syndrome 11	Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Bulbous nose, Sm...	OMIM:618779
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Gastroesophageal reflux, Clinodact...	OMIM:164745
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Sensorine...	ORPHA:1529
Achondrogenesis Type 1B	Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Short foot, Talipes ...	ORPHA:93298
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnios, Micromeli...	ORPHA:85166
Classic Phenylketonuria	Eczema, Lack of skin elasticity	ORPHA:79254
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario...	OMIM:617102
Ohdo Syndrome	Small scrotum, Depressed nasal bridge, Anteverted nares, Hearing impairment, Micrognathia, Crypto...	OMIM:249620
Achondrogenesis Type 1A	Short palm, Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Short fo...	ORPHA:93299
Mitral Valve Prolapse 1	High, narrow palate, High palate, Striae distensae	OMIM:157700
Mohr Syndrome	Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Conducti...	OMIM:252100
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Bowing of the legs, Micromelia, Abnormal ...	OMIM:200600
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Micrognathia, High palate, Long philtrum	ORPHA:2598
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Achondrogenesis	Anteverted nares, Polyhydramnios, Micromelia, Micrognathia, Hydrops fetalis, Long philtrum, Short...	ORPHA:932
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Carious teeth, Cryptorch...	ORPHA:2701
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ...	ORPHA:90650
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Fetal ascites, Polyhydramnios, Micromelia, Micrognathia, Flared metaphysi...	OMIM:215045
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Short m...	OMIM:180870
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Redundant skin, Underdeveloped nasal alae, External ear malformatio...	ORPHA:1252
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasi...	ORPHA:1234
Trigonocephaly 1	High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum	OMIM:190440
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advan...	OMIM:269250
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Depressed nasal ridge, Short 3rd metacarpal, Limb undergrowth, Short tibia, Short 4th...	OMIM:118651
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh...	ORPHA:2751
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Gastroesophagea...	OMIM:615419
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplas...	OMIM:108720
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy...	ORPHA:2879
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares,...	OMIM:614701
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Hypogonadotropic hypogonadism, Sensorineural hearing impairment, Honeyc...	ORPHA:494
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Cryptorchidism, Clinodactyly, Wide nasal bridge, Long philtrum, S...	OMIM:618577
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Edema, Underdevelo...	ORPHA:2315
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Depressed nasal bridge, Acne, Rhizomelia, Micrognathia, Abnormality of the humerus...	ORPHA:3098
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve...	OMIM:305400
Fetal Trimethadione Syndrome	Depressed nasal bridge, Hypospadias, Micrognathia, Overfolded helix, High palate, Abnormal helix ...	ORPHA:1913
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hearing impairment, Mac...	ORPHA:1914
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p...	ORPHA:210548
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Tapered finger, Thick lower ...	OMIM:300602
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonad...	ORPHA:85173
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Abnormal pinna morphology, Cryptorchidism, Depr...	ORPHA:1912
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Polyhydramnios, A...	ORPHA:2759
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un...	OMIM:615866
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Small e...	ORPHA:364577
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda...	OMIM:300484
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Abnormal metacarpal m...	ORPHA:166100
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Low-set, posteriorly rotated ears, Ante...	ORPHA:915
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Dental crowding, Sandal gap, Poster...	OMIM:617877
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Mic...	OMIM:311900
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur...	ORPHA:1895
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal antihelix mo...	ORPHA:1699
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Convex nasal ridge, External genital hypoplasia, Micrognathia, Tibial bowing, Hi...	ORPHA:251028
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Otospondylomegaepiphyseal Dysplasia	Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Sandal gap, Posterior...	ORPHA:1427
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Absent tragus, Micrognathia, Preaxial hand polydactyly, Overfolded helix...	ORPHA:79113
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Clinodactyly, Wide nasal bridge...	ORPHA:369891
Tetrasomy 18P	Low-set, posteriorly rotated ears, Large hands, Thin vermilion border, Narrow mouth, Short nose, ...	ORPHA:3307
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Cleft palate, Downturned corn...	ORPHA:163649
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va...	ORPHA:2831
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, C...	ORPHA:2635
Acrofrontofacionasal Dysostosis	Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, ...	ORPHA:1784
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Clef...	ORPHA:93946
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Arachnodactyly, Narrow mouth, Protruding ear, High palate, Bilateral talipes equ...	OMIM:615539
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Depressed nasal bridge, Anteve...	OMIM:619124
Distal Deletion 10P	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline...	ORPHA:1580
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Microretrognathia, Prominent ...	ORPHA:1307
Stiff Skin Syndrome	Sensorineural hearing impairment, Lack of skin elasticity	ORPHA:2833
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:1752
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Pde4D Haploinsufficiency Syndrome	Prominent nose, Micrognathia, Short metatarsal, Short philtrum, Bilateral coxa valga, Short phala...	ORPHA:439822
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Open mouth, Broad nasal tip	OMIM:613670
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Baker-Gordon Syndrome	Thin upper lip vermilion, Gastroesophageal reflux, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Stickler Syndrome, Type Ii	Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, High, narrow palate, Long...	OMIM:604841
Alkuraya-Kucinskas Syndrome	Small scrotum, Depressed nasal bridge, Anteverted nares, Edema, Overlapping toe, Pericardial effu...	OMIM:617822
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, High palate, Short nose	OMIM:615042
Fibrochondrogenesis 1	Hydrops fetalis, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hypoplasia, Depr...	OMIM:228520
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Anteverted nares, Agangl...	ORPHA:59315
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplasia, Micropeni...	OMIM:616894
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infec...	ORPHA:391372
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,...	OMIM:183600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Metaphyseal cu...	OMIM:613320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, High palate, Conductive hearing impairment...	ORPHA:740
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose	ORPHA:2429
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t...	ORPHA:485405
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Precocious puberty, Pyloric st...	ORPHA:96184
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, High, narrow palate...	ORPHA:1642
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia...	OMIM:258860
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, External genital hypoplasia, B...	ORPHA:3041
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W...	ORPHA:2107
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Proximal placement of ...	OMIM:217980
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose	OMIM:300581
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro...	OMIM:268310
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Down Syndrome	Depressed nasal bridge, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the ...	ORPHA:870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Posteriorly rotated ...	OMIM:239300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ...	OMIM:613870
Hydrolethalus	Low-set, posteriorly rotated ears, Polyhydramnios, Micromelia, Micrognathia, Cryptorchidism, Post...	ORPHA:2189
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Abnormal ear...	ORPHA:217017
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Sandal gap, Tapered finger, Mi...	OMIM:617061
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Esophageal atresia,...	OMIM:610536
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula...	ORPHA:1358
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Long nose, ...	OMIM:617602
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Cleft palate, Micropenis, Bifid nose, Hyposmia...	OMIM:614838
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De...	OMIM:618774
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearin...	OMIM:616910
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Zimmermann-Laband Syndrome	Hallux valgus, Wide nose, Abnormal external genitalia, Micrognathia, Bulbous nose, Supernumerary ...	ORPHA:3473
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Abnormal elasticity of skin, Cryptorchidism, High palate, Gastroesophageal reflux, Follicular hyp...	ORPHA:486815
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth...	OMIM:620250
Dyssegmental Dysplasia, Silverman-Handmaker Type	Posteriorly rotated ears, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidi...	ORPHA:1865
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat...	ORPHA:1790
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Frontal open bite, Micrognathia, Short toe, Gingival overgrowth, Blepharochalasis...	OMIM:225410
3C Syndrome	Finger syndactyly, Death in infancy, Hypoplasia of penis, Depressed nasal bridge, Intestinal malr...	ORPHA:7
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Hypospadias, Eczema, Prominent nasal bridge, Absent thumb,...	ORPHA:96097
Bainbridge-Ropers Syndrome	Dental crowding, Polyhydramnios, Micrognathia, Contracture of the proximal interphalangeal joint ...	OMIM:615485
Rafiq Syndrome	Thin upper lip vermilion, Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Cutis laxa,...	OMIM:614202
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Genu valgum, Downturned co...	ORPHA:2983
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, Mesoa...	OMIM:146510
Solar Urticaria	Edema, Pruritus, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology	ORPHA:97230
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion...	OMIM:137550
Raine Syndrome	Micromelia, Micrognathia, Protruding ear, High palate, Choanal stenosis, Microdontia, Neonatal de...	OMIM:259775
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Anteverted nares, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Carious...	OMIM:613026
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
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
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup...	OMIM:602483
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morph...	ORPHA:1458
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:1295
Intellectual Disability-Strabismus Syndrome	Polyhydramnios, Prominent nose, Micrognathia, High palate, Gastroesophageal reflux, Micropenis, D...	ORPHA:363528
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Micro...	ORPHA:570
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ...	ORPHA:1597
Intellectual Developmental Disorder, Autosomal Dominant 62	Arachnodactyly, Striae distensae	OMIM:618793
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Proximal placement of thumb, Crypto...	ORPHA:3121
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cr...	OMIM:613823
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Nonimmune ...	OMIM:608013
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Clinodactyly, Wide n...	OMIM:615583
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Sensorineural hearing impairment	OMIM:618379
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Hyperkeratosis...	OMIM:616029
Endocrine-Cerebroosteodysplasia	Small scrotum, Polyhydramnios, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex...	OMIM:612651
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Anteverted nares, Micrognathia, Bulbous nose, Calcaneovalgus deformity, Cleft pal...	OMIM:615065
Burn-Mckeown Syndrome	Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/ste...	OMIM:608572
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Bowing of the long bones, Short lingual frenulum, Hypoplastic scapulae...	OMIM:614091
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Hearing impairment, Anosmia, Hypogonadism, Short nose, Short nasal septum...	OMIM:302950
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad hallux, Bulbous nose,...	OMIM:614105
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Gastroesophageal reflux, Short philtrum, Shawl scrotum, Short nose	ORPHA:85277
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Metatarsus adductus, Hig...	ORPHA:436003
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Brachydactyly	ORPHA:2928
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ...	OMIM:601358
Prolidase Deficiency	Depressed nasal bridge, Eczema, Micrognathia, Crusting erythematous dermatitis, Skin ulcer, Conca...	OMIM:170100
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Dow...	ORPHA:238750
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Arthrogryposis, Distal, Type 2A	Dental crowding, Polyhydramnios, High palate, Ulnar deviation of the hand or of fingers of the ha...	OMIM:193700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Cardiofaciocutaneous Syndrome	Redundant skin, Lymphedema, Hyperextensible skin, High palate, Thickened helices, Low-set, poster...	ORPHA:1340
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Cryptorchidism, Duplication of phala...	OMIM:243310
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Wide nasal br...	OMIM:619383
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognath...	ORPHA:1974
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef...	ORPHA:261236
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue, Hyperkeratosi...	ORPHA:1839
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognat...	ORPHA:1305
Smith-Magenis Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary...	ORPHA:819
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Dysphagia	ORPHA:496689
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios...	ORPHA:1263
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand...	OMIM:619143
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Micrognathia, Depressed nasal ridge, Protruding ear, Downturned corners of mouth,...	OMIM:156200
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Tented upper lip vermilion, Depressed nasal bri...	ORPHA:363659
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Ring Chromosome 22 Syndrome	Edema, Lymphedema, Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Pleural effusion, Large h...	ORPHA:1446
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Genu valgum, Short philt...	OMIM:619142
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Musculocontractural Ehlers-Danlos Syndrome	Redundant skin, Protruding ear, Hyperextensible skin, High palate, Low-set, posteriorly rotated e...	ORPHA:2953
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Palpebral edema, Depressed nasal bridge, Bulbous nose, Protruding ear...	ORPHA:261144
Bazex-Dupre-Christol Syndrome	Eczema, Narrow nasal ridge, Underdeveloped nasal alae, Atopic dermatitis, Furrowed tongue, Acne i...	OMIM:301845
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal...	OMIM:101600
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cupped ear, Wide nasal bridge, ...	OMIM:616367
Oculodentodigital Dysplasia	Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad columella, Fin...	ORPHA:2710
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Eczema, Cleft palate, Concave nasal ridge, Short philtrum,...	OMIM:617337
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum,...	ORPHA:2756
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Absent nasal bridge, Neonatal death, Short tibia, Micropenis,...	OMIM:617925
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Do...	ORPHA:435638
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Low-set ears, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal hand metaphysis morphology, Ulnar metaphyseal irregularity, Broad proximal phalanges of ...	ORPHA:174
Osteoglophonic Dysplasia	Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Broad metac...	OMIM:166250
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Orofaciodigital Syndrome Iii	Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol...	OMIM:258850
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,...	OMIM:145420
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Peho Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Tap...	OMIM:260565
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Stickler Syndrome Type 1	Short nose, Sensorineural hearing impairment, Cleft palate, Long philtrum	ORPHA:90653
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E...	ORPHA:3107
Lowry-Maclean Syndrome	Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorc...	ORPHA:2409
Pili Torti-Onychodysplasia Syndrome	Abnormal pinna morphology, Eczema, Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar ke...	ORPHA:2890
Atypical Werner Syndrome	Convex nasal ridge, Rocker bottom foot, Micrognathia, Neoplasm of the small intestine, Lack of sk...	ORPHA:79474
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Triangular mouth, Protruding e...	OMIM:601675
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Deviation of the 5th toe, Micrognathia, Cl...	ORPHA:391408
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Polyhydramnios, Coxa...	OMIM:619833
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Inc...	ORPHA:357001
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, S...	ORPHA:1812
Congenital Disorder Of Glycosylation, Type Iig	Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Anteverted nares, Rhizome...	OMIM:611209
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology...	OMIM:618580
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth	ORPHA:228384
Braddock-Carey Syndrome 1	Anteverted nares, Posteriorly rotated ears, Clinodactyly, Pierre-Robin sequence, Small hand, Wide...	OMIM:619980
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ...	OMIM:614749
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Posteri...	OMIM:618430
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Low-set, posteriorly rotated ears, Microretrognathia, Hypospa...	ORPHA:1786
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Cari...	OMIM:604173
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl...	OMIM:618571
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b...	ORPHA:90652
Intellectual Developmental Disorder, X-Linked 21	Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Macroorchidism, Short nose, Open m...	OMIM:300143
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Edema, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartom...	OMIM:269860
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru...	OMIM:616420
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Esophageal varix, Hyperkeratosis, Inflammation of the la...	OMIM:614576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognathia, Macrogl...	OMIM:242860
Nablus Mask-Like Facial Syndrome	High palate, Small earlobe, Micropenis, Depressed nasal bridge, Anteverted nares, Short hallux, T...	OMIM:608156
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroesophageal reflux, Microp...	OMIM:301040
Opsismodysplasia	Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Edema, Polyhydramnios, Rh...	OMIM:258480
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Micromelia, Dumbbell-shaped lo...	OMIM:151210
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural h...	ORPHA:79107
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossopto...	OMIM:620269
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access...	OMIM:277170
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Posteriorly rotated ears, Micrognathia, Low-set ears, Dysphagia, Short nose, Me...	ORPHA:163961
Tetrasomy 5P	Redundant neck skin, Anteverted nares, Overlapping toe, Short hallux, Posteriorly rotated ears, M...	ORPHA:3309
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O...	OMIM:616638
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, High palate, Short nose, Mac...	OMIM:218000
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Sensorineural he...	ORPHA:3241
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Thickened helices, Bulbous nose, Clinodactyly of ...	OMIM:618828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, ...	OMIM:609945
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
C Syndrome	Redundant skin, Polyhydramnios, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th fi...	ORPHA:1308
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Sensorineural he...	OMIM:147950
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro...	ORPHA:54028
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Posteriorly rotated ears...	OMIM:614080
Agnathia-Otocephaly Complex	Wide nose, Polyhydramnios, Micrognathia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Cond...	OMIM:202650
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Posteriorly rotated ears, Camptodactyly of finger, Prominent ...	ORPHA:2083
Auriculocondylar Syndrome	Low-set, posteriorly rotated ears, Dental crowding, Abnormal pinna morphology, Hamartoma of tongu...	ORPHA:137888
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert...	ORPHA:280200
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami	OMIM:141300
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Postaxial polyda...	OMIM:616300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose, M...	OMIM:620292
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Micromelia, Ab...	ORPHA:35107
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Donnai-Barrow Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Sensorineural hearing i...	ORPHA:2143
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala...	ORPHA:1135
Man1B1-Cdg	Thin upper lip vermilion, Wide nose, Prominent nose, Wide nasal bridge, 2-3 toe syndactyly, Cutis...	ORPHA:397941
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Geographic tongue	OMIM:614204
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
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Short me...	OMIM:614613
Seckel Syndrome 2	Hypospadias, Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t...	OMIM:613390
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Alveolar r...	OMIM:612938
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Prominent nose, Micrognathia, Clinodactyly, Downturned corners of mo...	ORPHA:177907
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hearing impairment, Cleft palate, Low-set ears, Clinodactyly, Short nos...	OMIM:614261
Cronkhite-Canada Syndrome	Intestinal polyposis, Lymphedema, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Ham...	ORPHA:2930
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Bowing of the long bones, Micromelia, Bowing of the legs, Coxa valga, Micrognathia, ...	OMIM:255800
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled skin, High palate...	OMIM:219200
Loeys-Dietz Syndrome 4	Arachnodactyly, Eosinophilic infiltration of the esophagus, High, narrow palate, Hyperextensible ...	OMIM:614816
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Ab...	ORPHA:1794
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Meckel Syndrome, Type 9	Limb undergrowth, Ambiguous genitalia, Talipes equinovarus	OMIM:614209
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Hypospadias, Abnormality of the dentition, Tapered finge...	ORPHA:65286
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Micr...	OMIM:601812
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-...	ORPHA:1915
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Broad nasal tip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Microtia, Short...	OMIM:239800
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Posteriorly rotated ears, Micrognathia, C...	OMIM:602398
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Dysphagia, Dry skin	OMIM:612379
Rapp-Hodgkin Syndrome	Conical tooth, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula, Syndactyly, Depressed nasa...	OMIM:129400
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Brachydactyly, Small scrotum, Depressed nasal bridge, Rocker bottom foo...	OMIM:601353
Hartnup Disorder	Glossitis	OMIM:234500
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Edema, Pericardial effusion, Wide mouth, Low-set ears, Long philtrum, Sho...	OMIM:608776
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Cryptorchidism, Micropenis, Low-set e...	OMIM:614732
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Conducti...	OMIM:164200
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limb undergrowth, Abnormal metaphysis morphology, Dry skin	ORPHA:177
Dpm1-Cdg	Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, External genital hypoplasia, Micr...	ORPHA:79322
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalanx of finger,...	OMIM:601559
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Arachnodactyly, Camptodacty...	ORPHA:83
Noonan Syndrome 7	Depressed nasal bridge, Large earlobe, Thick vermilion border, Impaired oropharyngeal swallow res...	OMIM:613706
Ehlers-Danlos Syndrome, Classic-Like	Hiatus hernia, Ambiguous genitalia, female, Hyperextensible skin, Bicornuate uterus, Soft skin, S...	OMIM:606408
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme...	ORPHA:2639
Macs Syndrome	Eclabion, Irregular dentition, Palpebral edema, Redundant skin, Hypergonadotropic hypogonadism, M...	OMIM:613075
Bohring-Opitz Syndrome	Polyhydramnios, Micrognathia, Gastroesophageal reflux, Dislocated radial head, Syndactyly, Depres...	OMIM:605039
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Deep philtrum, High palate...	OMIM:115150
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones...	ORPHA:750
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hig...	ORPHA:96148
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, Petechiae	OMIM:619463
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Tapered finger, S...	ORPHA:544503
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Redundant neck skin, Anteverted nares, Rhizomelia, Micromelia, Abnormal th...	ORPHA:1842
46,Xy Sex Reversal 4	Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Micrognathia, Sensorineural hea...	OMIM:154230
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Short nose, Sandal gap, Long philtrum	OMIM:300887
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Metaphyseal...	OMIM:613091
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Weiss-Kruszka Syndrome	Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Hearing impairment, Cuppe...	OMIM:618619
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Micropenis, Short phalanx of finger, Syndactyly, Short me...	OMIM:263650
Atelosteogenesis Type I	Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, Abnormal ossificatio...	ORPHA:1190
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ...	OMIM:268305
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognathia, Diastema, Cryptorc...	OMIM:300534
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly...	OMIM:605627
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal ...	ORPHA:245
Orofaciodigital Syndrome Type 6	Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tong...	ORPHA:2754
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Thanatophoric Dysplasia	Depressed nasal bridge, Redundant skin, Polyhydramnios, Micromelia, Hearing impairment, Increased...	ORPHA:2655
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, Wide nasal bridge, Cleft p...	OMIM:106260
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Sensorineur...	ORPHA:560
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, External genital hypoplasia, Polyhydramnios, Micrognathia, Deep philtru...	ORPHA:329178
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Celiac disease, Bulbous nose, ...	ORPHA:284169
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, ...	OMIM:617895
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Eczema, Prominent nasal bridge, Hypospadias, Congenital sensorineural hearing i...	ORPHA:500159
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Po...	ORPHA:990
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala...	ORPHA:1770
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mic...	OMIM:257300
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig...	OMIM:612313
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno...	OMIM:258865
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s...	OMIM:617802
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol...	OMIM:617604
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Depressed nasal bridge, Camptodactyly of finger, Broad nasa...	ORPHA:354
Recombinant 8 Syndrome	Small scrotum, Depressed nasal bridge, Anteverted nares, Redundant skin, Cleft upper lip, Abnorma...	ORPHA:96167
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Sensorineural hearing impairment, Cryptorchidism, Anosm...	OMIM:612370
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ...	OMIM:614207
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hydro...	OMIM:620014
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit...	ORPHA:90291
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Protruding ear, G...	ORPHA:2031
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Apert Syndrome	Cutaneous finger syndactyly, Choanal stenosis, Broad distal phalanx of the thumb, Bifid uvula, Sy...	OMIM:101200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian...	ORPHA:95699
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop...	ORPHA:79409
Fryns Syndrome	Bifid scrotum, Tented upper lip vermilion, Polyhydramnios, Proximal placement of thumb, Prominent...	OMIM:229850
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Trisomy 20P	Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ...	ORPHA:261318
Kindler Epidermolysis Bullosa	Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Short 5th metacarpal, Ab...	ORPHA:2908
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, ...	OMIM:247200
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Penile freckling, Cutis laxa, Hydrocele testis, High palate, Long philtru...	OMIM:605309
Campomelia, Cumming Type	Death in infancy, Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetali...	ORPHA:1318
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Depressed nasal bridge, Anteverted nares, Micromelia, Monkey wrench femoral ne...	OMIM:618870
Peho Syndrome	Anteverted nares, Palpebral edema, Tapered finger, External ear malformation, Open mouth, Gingiva...	ORPHA:2836
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Narro...	OMIM:226600
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Clinodac...	OMIM:618454
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Redundant skin, Polyhydramnios, Micromelia, Hearing impairment, Increased...	ORPHA:93274
Odontochondrodysplasia 1	Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphy...	OMIM:184260
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Metatarsus adduct...	OMIM:227330
Warburg Micro Syndrome 3	Small scrotum, Micrognathia, Hypoplastic labia minora, Narrow palate, Micropenis, Downturned corn...	OMIM:614222
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Co...	ORPHA:894
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture...	ORPHA:89842
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Finger joi...	OMIM:244200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D...	OMIM:615398
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of te...	OMIM:608612
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Palpebral edema, Micromelia, Polyhydramnios, Long philtrum, Short nose, Adducte...	ORPHA:50810
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Missing ribs, Increased nuchal translucency, Depressed nasa...	OMIM:608022
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue,...	ORPHA:2167
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:619817
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
Fibromuscular Dysplasia, Multifocal	Striae distensae, Dental crowding, Narrow nose, Hiatus hernia, Micrognathia, Hyperextensible skin...	OMIM:619329
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abn...	ORPHA:1798
Micro Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorch...	ORPHA:2510
Cornelia De Lange Syndrome 1	Micromelia, Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of...	OMIM:122470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Redundant neck skin, Polyhydramnios, Lymphedema, Micr...	OMIM:235255
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Micromelia, Hydrops fetalis, Stillbirth, Short ribs	OMIM:600972
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downt...	ORPHA:531151
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose...	OMIM:615803
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Erythema, Palmoplantar hyperkeratosis, Crusting erythematous dermatitis	ORPHA:158673
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f...	ORPHA:251071
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Protruding ear, Thin vermilion border, Low-set ears...	ORPHA:1920
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wid...	OMIM:224410
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Macrotia, Depressed nasal bridge	ORPHA:99688
Leukocyte Adhesion Deficiency Type Ii	Small earlobe, Depressed nasal bridge, Palpebral edema, Severe periodontitis, Protruding tongue, ...	ORPHA:99843
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Choanal atresia, Polyhydramnios, Cleft palate, Cutis laxa, Rectovaginal f...	OMIM:270420
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Protruding tongue, Micrognathia, Sensorineural hearing impairment, E...	OMIM:608779
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Open bite, Skin ulcer, Gi...	ORPHA:2907
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia...	ORPHA:1908
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Eczema, Prominent nose, Cutis laxa, Protruding ear, Long philtrum	OMIM:619691
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Abnormal pinna m...	ORPHA:2839
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Anteverted nares, Redundant skin, Broad nasal tip, Carious teeth, Cutis laxa...	ORPHA:357074
Cholesteryl Ester Storage Disease	Pruritus, Esophageal varix	ORPHA:75234
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Polyhydramnios, Mi...	ORPHA:1860
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Posteriorly rotated ears, Thin vermilion border, High palate, Low-set ears, Sho...	OMIM:601853
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Tarp Syndrome	Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ...	ORPHA:2886
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Microdonti...	OMIM:613458
Joubert Syndrome 18	Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, Talipes equinova...	OMIM:614815
Geleophysic Dysplasia 3	Depressed nasal bridge, Anteverted nares, Polyhydramnios, Bulbous nose, Wide nasal bridge, Short ...	OMIM:617809
Spondylodysplastic Ehlers-Danlos Syndrome	Lymphedema, Micrognathia, Metaphyseal widening, Abnormal finger morphology, Hyperextensible skin,...	ORPHA:536471
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm...	ORPHA:521426
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, M...	OMIM:618021
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Choanal atresia, Abnormal nasal morphology, Non-midline cleft ...	ORPHA:1104
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing...	ORPHA:2021
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Arachnodactyly, Cryptorchidism, Wide nasal bridge, Abnormality of primary teeth, Gingiv...	ORPHA:75496
Barber-Say Syndrome	Redundant skin, Micrognathia, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, A...	OMIM:209885
Cleidocranial Dysplasia	Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Clinodactyly of the 5th finger, Depre...	ORPHA:1452
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Ambiguous genitalia, male, Clinodactyly of the 5th fin...	OMIM:260660
Pycnodysostosis	Prominent nose, Micrognathia, High palate, Rhizomelia, Persistence of primary teeth, Mesomelia, D...	ORPHA:763
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia	ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short metacarpal, Ov...	OMIM:616723
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Polyhydramnios, Micrognathia, A...	ORPHA:3472
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, High, na...	ORPHA:276432
Kleefstra Syndrome 1	Natal tooth, Anteverted nares, Abnormal pinna morphology, Hearing impairment, Protruding tongue, ...	OMIM:610253
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Downturned corners of mouth, Hyperextensible...	ORPHA:1185
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Prominent nose, Micrognathia, Tibial bowing, Limb undergrowth, Oligohydramnios	ORPHA:453510
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ...	OMIM:211350
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli...	ORPHA:1848
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Large fleshy ears, High palate, Gastroesophageal reflux, Prominent su...	ORPHA:280633
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ...	ORPHA:457395
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Hypogonadism, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, Protruding ear, Hig...	OMIM:303600
Mass Syndrome	Arachnodactyly, Striae distensae	OMIM:604308
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Pyloric stenosis, Lack of skin elasticity, Cutis laxa, Small bowel diverticula	ORPHA:90349
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnormal thumb morphology, Bul...	ORPHA:324410
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Small hand, Brachydactyly	OMIM:618618
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus	OMIM:616155
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Postaxial h...	ORPHA:2752
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Hypospadias, Uplifted earlobe, 2-3 toe syndactyly, ...	OMIM:616449
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, C...	ORPHA:2059
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the dentition, Unilateral radial aplasia, Tapered fin...	ORPHA:476126
Kleefstra Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Exa...	ORPHA:261494
Malan Syndrome	Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance...	OMIM:614753
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Prominent nose, Downturned corners of mouth, Hyperkeratosis, Short philtrum,...	OMIM:615510
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Bifid uvula	OMIM:615706
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasa...	OMIM:616430
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal fallopian tube morphology, Intestinal malrotation, Polyhydramnios, ...	ORPHA:99776
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Tracheoesophag...	OMIM:614083
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def...	OMIM:609638
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Underdeveloped nasal alae, Prominent nose, Precocious puberty, Sensorineural hearing ...	ORPHA:2637
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Choanal atresia, Cleft upper lip, Conical tooth, Pyloric sten...	OMIM:263750
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Posteriorly rotated ears, Broad nasal tip, Protruding tongue, Submucous cleft ha...	OMIM:618106
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Clinodactyly of t...	OMIM:616580
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Polyhydra...	OMIM:600383
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Aganglionic megacolon, Polyhydramnios, Tapered finger, Wide nasal bridge, Hydr...	OMIM:613603
Feingold Syndrome 1	Polyhydramnios, Micrognathia, High palate, Anteverted nares, Esophageal atresia, Short toe, Short...	OMIM:164280
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose	OMIM:618437
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypto...	OMIM:613457
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ...	ORPHA:95706
Anauxetic Dysplasia 3	Short metacarpal, Depressed nasal bridge, Femoral bowing, Cutis laxa, Genu valgum, Oligodontia, S...	OMIM:618853
Achondrogenesis Type 2	Edema, Micromelia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Short...	ORPHA:93296
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy, Dysphagia, Sensorineural hearing impairment	OMIM:158900
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo...	OMIM:607778
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po...	OMIM:615109
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Polyhydramnios, Micromelia, Flared metaphysis, Short ribs, Neon...	OMIM:187601
Pterygium Colli, Isolated	Short nose, Protruding ear	OMIM:177990
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metac...	OMIM:616145
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ...	ORPHA:3015
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca...	OMIM:147891
Achondroplasia	Depressed nasal bridge, Anteverted nares, Rhizomelia, Bowing of the legs, Short proximal phalanx ...	ORPHA:15
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Methimazole Embryofetopathy	Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula	ORPHA:1923
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Depressed nasal bridge, Edema, Polyhydramnios, Pericardial effusion,...	ORPHA:363705
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, Cutaneous syndacty...	OMIM:618332
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Short ribs, Limb undergrowth, Abnormal metaphysis morpho...	ORPHA:1803
Trisomy 10P	Micrognathia, Orofacial cleft, High palate, Gastroesophageal reflux, Depressed nasal bridge, Ante...	ORPHA:171929
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Polyhydramnios, Coxa valga, Micrognathia, Long fingers,...	OMIM:608149
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Polyhydramnios, ...	OMIM:617157
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Tented upper lip vermilion, Eczema, High, narrow palate, Bulbous nos...	ORPHA:488632
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Micrognathia, Long nose, Short phalanx of finger, Broad metacarpals, Short metaca...	ORPHA:508533
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Clitoral hypertrophy, Depressed nasal bridge, Anteverted nares, Intesti...	OMIM:244450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Hyperextensible skin, High palate, Microdontia, Depressed nas...	ORPHA:536467
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po...	OMIM:615108
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Non-midline cleft lip, Postaxial hand polydactyly, Mal...	ORPHA:2075
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Conductive hearin...	ORPHA:199306
Alg8-Cdg	Abnormality of the gastrointestinal tract, Brachydactyly, Edema, Hydrops fetalis, Cutis laxa, Mac...	ORPHA:79325
Charcot-Marie-Tooth Disease, Type 4C	Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T...	OMIM:601596
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Hypospadias, Microgna...	OMIM:603736
Infantile Systemic Hyalinosis	Short palm, Abnormality of the gastrointestinal tract, Abnormal dental morphology, Camptodactyly ...	ORPHA:2176
Jacobsen Syndrome	Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h...	ORPHA:2308
Intellectual Developmental Disorder, X-Linked 98	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und...	OMIM:300912
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophageal atresia, Tr...	OMIM:314390
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Edema, Postaxial polyda...	OMIM:617527
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Anteverted nares, Abnormal dental enamel morph...	ORPHA:2616
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Micrognathia, Short thumb, ...	OMIM:268400
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,...	ORPHA:158668
Femoral-Facial Syndrome	Short fourth metatarsal, Micrognathia, Gastroesophageal reflux, Micropenis, Cryptorchidism, Humer...	OMIM:134780
Monosomy 9P	Proximal placement of thumb, Micrognathia, Anotia, High palate, Depressed nasal bridge, Anteverte...	ORPHA:261112
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Depres...	ORPHA:1512
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Choanal atresia, Camptodactyly of finger, E...	ORPHA:3380
Dend Syndrome	Anteverted nares, Thickened ears, Dehydration, Downturned corners of mouth, Long philtrum, Clinod...	ORPHA:79134
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Polyhydramnios, Wide nasal bridge, High palate, Limb undergrowth, Short nose	OMIM:618005
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Esophageal atresia, Sensorineural hearing impairment, Cryptorchidism, Anosmi...	ORPHA:3157
Trisomy 8P	Short fourth metatarsal, Conductive hearing impairment, Clinodactyly of the 5th finger, Micropeni...	ORPHA:264450
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Bowing of the legs	ORPHA:156728
Cohen Syndrome	Cryptorchidism, Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal...	ORPHA:193
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Metaphyseal widening, Short ribs, Metaphyseal cupping, Short nose	OMIM:614524
Opitz-Kaveggia Syndrome	Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ...	OMIM:305450
Witteveen-Kolk Syndrome	Polyhydramnios, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Clinodactyly,...	OMIM:613406
Dyskeratosis Congenita	Esophageal stenosis, Hearing impairment, Abnormality of the dentition, Carious teeth, Malabsorpti...	ORPHA:1775
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermap...	ORPHA:2282
Rothmund-Thomson Syndrome Type 2	Long nose, Facial edema, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short ph...	ORPHA:221016
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio...	OMIM:602535
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, High, narrow palate, Short philtrum, Male urethral meatus stenosis, F...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Protruding ear, Oligodontia, High palate, Short philtrum, Micropenis, Depressed nas...	OMIM:309590
Alg9-Cdg	Villous atrophy, Micrognathia, Hydrops fetalis, Large fleshy ears, Gastroesophageal reflux, Bifid...	ORPHA:79328
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Cranioectodermal Dysplasia 4	Anteverted nares, Cutis laxa, Protruding ear, Taurodontia, Thin vermilion border, Cutaneous finge...	OMIM:614378
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the...	ORPHA:2741
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:613435
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Uterus di...	ORPHA:2491
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Palm...	OMIM:257980
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Polyhydramnios, Micromelia,...	OMIM:616546
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Deeah Syndrome	Death in infancy, Overlapping fingers, Polyhydramnios, Malabsorption, Hearing impairment, Cryptor...	OMIM:619004
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Neu-Laxova Syndrome 1	Polyhydramnios, Swollen lip, Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ...	OMIM:256520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Abnormality of the dentition...	OMIM:271510
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous syndactyly, Femoral bowing,...	OMIM:600920
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm...	ORPHA:429
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, Micrognathia, High ...	ORPHA:3103
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Absent thumb, Esophageal atresia, Tracheoesopha...	OMIM:300514
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Redundant skin, Rhizomelia, Tibial bowing, Femoral bowing, Uterine leiomy...	OMIM:616482
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Lymphedem...	ORPHA:109
Lathosterolosis	Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand...	ORPHA:46059
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Hearing impairment, Micrognathia, Bulbous nose, Clinodactyly,...	OMIM:614114
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bone...	ORPHA:93346
Rabson-Mendenhall Syndrome	Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormali...	ORPHA:769
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Polyhydramnios, Proximal placement of thumb, Micrognathia, Gastroesophageal ...	ORPHA:818
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Coxa valga, Micrognathia, Bulbous nose, Thick lower l...	OMIM:619297
Ogden Syndrome	Redundant neck skin, Redundant skin, Lymphedema, Micrognathia, Deep philtrum, Protruding ear, Sho...	OMIM:300855
Immunodeficiency 12	Skin rash, Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous st...	OMIM:615468
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Downturned...	OMIM:618590
Ring Chromosome 7 Syndrome	Short philtrum, Clinodactyly of the 5th finger, Small earlobe, Median cleft palate, Bifid uvula, ...	ORPHA:1449
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Tapered finger, Micrognathia, Sensorin...	OMIM:254940
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ...	ORPHA:2249
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Small scrotum, Choana...	ORPHA:1300
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Nonimmune hydrops fetalis, Polyhydramnios, Tapered t...	OMIM:620369
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Prominent nasal bridge, Proximal placement of thumb, Protruding tongue, Diastema, Co...	OMIM:212066
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Hyperextensible skin, Petechiae, Striae distensae	OMIM:225310
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias, Micrognathia, Cutis laxa, Low-set ears, Ascites	OMIM:301045
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Severe X-Linked Intellectual Disability, Gustavson Type	Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract in...	ORPHA:3078
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli...	OMIM:615726
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal re...	ORPHA:2729
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,...	OMIM:619179
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Posteriorly rotated ...	OMIM:300000
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Oste...	ORPHA:2457
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia	OMIM:612776
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Depressed nasal bridge, Posteriorly rotated ears, Protruding tongue, Tapered finger, Prominent cr...	OMIM:617804
Ollier Disease	Precocious puberty, Abnormal metaphysis morphology, Skin ulcer, Micromelia	ORPHA:296
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Bilateral cleft lip and palate, High pala...	OMIM:618874
Glycogen Storage Disease Iv	Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Ascites	OMIM:232500
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Polyhydramnios, Cleft upper lip, Cleft palate, Wide...	ORPHA:1394
Aspergillosis	Nasal congestion, Pleural effusion, Eosinophilia, Abnormal esophagus morphology	ORPHA:1163
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Protruding ear, Hyperextensible skin, High palate, Ecchymosis, Long philtrum, Microretrognathia, ...	OMIM:601776
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Mi...	OMIM:615873
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Depressed nas...	ORPHA:3404
Maternal Phenylketonuria	Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Wide nasal...	ORPHA:2209
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ...	ORPHA:63446
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Anteverted nares, Protruding tongue, Cryptorchidism, Downturned corners of m...	ORPHA:96147
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Broad nasal tip, Sensor...	OMIM:222448
Laron Syndrome	Limb undergrowth	OMIM:262500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Polyhydram...	OMIM:213980
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Brachydactyly, Depressed nasal bridge, Underdeveloped nasal alae, Tapered finger, Micrognathia, S...	OMIM:616007
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Flared metaphysis, Vertebral hypoplasia, Coxa vara, Thin vermilion border, Short femo...	OMIM:602557
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micromelia, Cryptorchidism, Ambiguous gen...	ORPHA:2772
Fontaine Progeroid Syndrome	Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodo...	OMIM:612289
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Sensorineural hearing impairment, Wide nas...	OMIM:300749
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Large hands, Abnormal metaphysi...	ORPHA:1801
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Glossoptosis, High palate, Conductive hearing i...	ORPHA:861
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of...	ORPHA:199
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly	OMIM:616589
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl...	ORPHA:158687
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearin...	ORPHA:1018
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Tented upper lip vermilion, External genital hypoplasia, Polyhydramnios, Mic...	ORPHA:96334
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Lymphedema, Brachydactyly	ORPHA:1426
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar de...	OMIM:214100
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Low-s...	ORPHA:175
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Anteverted nares, Polyhydramnios, Hearing impai...	ORPHA:3339
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Hypoplasia of penis, Camptoda...	ORPHA:2008
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Conductive hearing impairment, Abnormal metaphysis morphology, Depressed nasal ...	ORPHA:1861
Acrodermatitis Enteropathica	Malabsorption, Pustule, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilit...	ORPHA:37
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous po...	OMIM:158350
Immunodeficiency 23	Eczema, Allergic rhinitis, Eosinophilia, Esophageal stricture, Erythema, Sensorineural hearing im...	OMIM:615816
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin...	ORPHA:2001
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ...	OMIM:175500
Familial Cervical Artery Dissection	Striae distensae	ORPHA:36382
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide mouth, Low...	OMIM:618797
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Mi...	OMIM:614225
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Dry skin, Cleft palate, Agenesis of permanent tee...	ORPHA:1401
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Underdeveloped nasal alae, Cryptorchidism, Increased n...	ORPHA:453499
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Hypoplasia ...	OMIM:200995
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,...	ORPHA:2538
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Short metacarpal, Mixed hearing impairment, Anteverted nares, Bowed humerus, T...	OMIM:272460
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Small scrotum, Orofacial cleft, High palate...	ORPHA:2052
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Cryptorchidis...	ORPHA:3338
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Micrognathia, Preaxial polydactyly, Femoral bowing, Short philtrum, G...	OMIM:210710
Arterial Tortuosity Syndrome	Arachnodactyly, Redundant skin, Rocker bottom foot, Hiatus hernia, Coxa valga, Pyloric stenosis, ...	ORPHA:3342
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Polyhydramnios, High, narrow palate, Clinodactyly of the 5th finger, Hepatob...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat...	OMIM:270400
Scarf Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Cutis l...	ORPHA:3134
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ...	OMIM:610828
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Posteriorly rotated ears, Metaphyseal widening, Absent nasal bridge, Short finger, Me...	OMIM:612813
Hypophosphatasia, Infantile	Death in infancy, Micromelia, Bowing of the legs, Polyhydramnios, Abnormality of the dentition, S...	OMIM:241500
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fist...	OMIM:301030
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Eczema, Abnormal oral mucosa morphology, Und...	OMIM:305100
Ayme-Gripp Syndrome	Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Hearin...	OMIM:601088
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage...	OMIM:301044
Sponastrime Dysplasia	Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses ...	ORPHA:93357
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Clinodactyly, Sensorineural h...	OMIM:616541
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Arachnodactyly, Hiatus hernia, Intestinal perforation, Hyperexte...	OMIM:130080
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow nasal ridge, Cryptorchidism, Cutis laxa, Hyperextensible skin, Talipes equinovarus, Low-se...	OMIM:219150
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, A...	ORPHA:474
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Greenberg Dysplasia	Polyhydramnios, Micromelia, Micrognathia, Depressed nasal ridge, Hydrops fetalis, Tetraphocomelia...	OMIM:215140
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ossifi...	ORPHA:79345
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Cl...	ORPHA:1106
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit...	OMIM:612394
Jaberi-Elahi Syndrome	Depressed nasal bridge, Triangular mouth, Protruding ear, Talipes equinovarus, Low-set ears, Hand...	OMIM:617988
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Hyperextensible skin, Microdontia, Prominent antitragus, Dislocated radial head, Mi...	OMIM:245600
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Female pseudohermaphroditism, Cryptorchidism, Short to...	ORPHA:1519
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Anteriorly placed anus, Cutaneous finger s...	OMIM:151050
Frontorhiny	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft pa...	ORPHA:391474
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Skin rash, Malabsorption, Sensorineural hearing impairment...	ORPHA:47
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Contracture...	ORPHA:457279
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Anteverted nares, Dental crow...	ORPHA:261323
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose, Anteverted ears	OMIM:618087
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro...	ORPHA:2483
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Wide mouth...	OMIM:300661
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Low-set ears, Long philtrum, Short nose, ...	OMIM:103050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi...	OMIM:619227
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hy...	ORPHA:1465
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Posteriorly rotated ears, T...	ORPHA:1272
Degcags Syndrome	Polyhydramnios, Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, High palate, Pallor, Gas...	OMIM:619488
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal...	ORPHA:974
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl...	OMIM:617866
Fibular Hemimelia	Finger syndactyly, Toe syndactyly, Short femur, Abnormal morphology of ulna, Bowing of the legs, ...	ORPHA:93323
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Gastroesoph...	ORPHA:313892
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Bulbous nose, Sensorineural hearing impairm...	ORPHA:250989
Harel-Yoon Syndrome	Short nose, Micrognathia	OMIM:617183
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Short palm, Depressed nasal bridg...	ORPHA:93271
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set, posteriorly rotated ears, Rhizomelia, Posteriorly rotated ears, Absent nasal bridge, Mes...	ORPHA:171866
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Choanal atresia, Polyhydramnios, Intestinal malro...	ORPHA:1199
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Hyperextensible ...	OMIM:619950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Carpal synostosis, Bowing of the long bones, Flared metaphysis, Advanced ossification of carpal b...	OMIM:615349
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,...	ORPHA:453504
Pallister-Hall Syndrome	Small scrotum, Depressed nasal ridge, Micropenis, Bifid uvula, Aplasia/hypoplasia of the uterus, ...	ORPHA:672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,...	ORPHA:352665
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Gingival overgrowth, Dysphagia, Hypoplastic vertebral bodies, Narr...	OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Dental crowding, Broad hallux, Sandal gap, Hearing impairmen...	OMIM:616078
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, Femoral bowing, Clinodac...	OMIM:274000
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Tibial bowing, Hypoplasia of first ribs, Choanal ...	OMIM:269150
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Gi...	OMIM:607330
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Skin rash, Tracheoesophageal fistula, Microtia, High palate, Talipes eq...	OMIM:277380
Chops Syndrome	Anteverted nares, Hearing impairment, High, narrow palate, Cryptorchidism, Downturned corners of ...	OMIM:616368
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Rhizomelia, Tapered finger, Clinodactyl...	ORPHA:319182
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Microd...	ORPHA:1896
Cerebrocostomandibular Syndrome	Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal...	OMIM:117650
Stromme Syndrome	Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Preaxial polydacty...	OMIM:243605
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Ctcf-Related Neurodevelopmental Disorder	Short philtrum, Joint contracture of the 5th finger, Gastroesophageal reflux, Prominent fingertip...	ORPHA:363611
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose	OMIM:613038
Cutis Laxa, Autosomal Recessive, Type Iiib	Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric stenosis, Promin...	OMIM:614438
Cranioectodermal Dysplasia 2	Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Mic...	OMIM:613610
Mirage Syndrome	Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Esophageal str...	OMIM:617053
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Eczema, Allergic rhinitis, 2-3 toe syndactyly, High palate, Mesomelia, Clinodactyly o...	OMIM:618162
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Icf Syndrome	Depressed nasal bridge, Malabsorption, Protruding tongue, Micrognathia, Macroglossia, Low-set ears	ORPHA:2268
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Overfolded helix, Low-set ears, Narrow mouth, Short nose	OMIM:613735
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi...	ORPHA:2719
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Arterial Tortuosity Syndrome	Soft, doughy skin, Arachnodactyly, Hiatus hernia, Micrognathia, Cutis laxa, Bifid uvula, Hyperext...	OMIM:208050
Osteogenesis Imperfecta, Type Ii	Limb undergrowth, Nonimmune hydrops fetalis, Convex nasal ridge, Tibial bowing	OMIM:166210
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Peters Plus Syndrome	Polyhydramnios, Micromelia, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly ...	ORPHA:709
Coach Syndrome 1	Wide mouth, Postaxial hand polydactyly, Esophageal varix, Anteverted nares	OMIM:216360
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,...	ORPHA:64743
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Underdeveloped nasal alae, Abnormality of the dentition, High, narr...	ORPHA:2108
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Missing ribs, Pyloric stenos...	OMIM:147791
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Polyhydramnios, Lymphedema, Dumbbel...	ORPHA:3144
Ramos-Arroyo Syndrome	Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Xerostomia, Conca...	ORPHA:1051
Lenz-Majewski Hyperostotic Dwarfism	Redundant skin, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal finger mor...	ORPHA:2658
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Anteverted nares, Hypospadias, Cleft ...	ORPHA:2745
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Choanal stenosis, Gast...	OMIM:620186
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Coxoauricular Syndrome	Micromelia, Abnormal femur morphology, Microtia, Atresia of the external auditory canal, Hearing ...	ORPHA:1508
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Death in infancy, Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Congenital pyloric a...	OMIM:226730
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Edema, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinodactyl...	OMIM:266920
Cutis Laxa, Autosomal Recessive, Type Iic	Anteverted nares, Dental crowding, Overlapping toe, Broad nasal tip, Bilateral cryptorchidism, Py...	OMIM:617402
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia,...	OMIM:618820
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, High, narrow palate, Thic...	OMIM:230740
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Advanced ossification o...	OMIM:224400
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Depressed nasal brid...	OMIM:277590
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sensorineural hearing impairment, Furrowed tongue, Hyperkera...	OMIM:148210
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis...	ORPHA:798
Zttk Syndrome	Depressed nasal bridge, Abnormality of the dentition, Submucous cleft hard palate, Small hand, Wi...	OMIM:617140
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, Lobulated tongue, Ambiguo...	OMIM:249000
Wolman Disease	Ascites, Esophageal varix, Steatorrhea	ORPHA:75233
Spondyloepiphyseal Dysplasia Congenita	Short femur, Micrognathia, Upper limb undergrowth, Cleft palate, Genu valgum, Glossoptosis, Short...	ORPHA:94068
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Small earlob...	OMIM:619522
Pelviscapular Dysplasia	Redundant neck skin, Short femur, Abnormal pinna morphology, Hearing impairment, Hypoplastic scap...	ORPHA:93333
Loeys-Dietz Syndrome 6	Arachnodactyly, High palate, Striae distensae	OMIM:619656
Bronchogenic Cyst	Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology	ORPHA:2357
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hy...	ORPHA:268261
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol...	ORPHA:252164
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Cutis laxa, Thin vermilion border, Long philtru...	OMIM:614800
Scarf Syndrome	Bifid scrotum, Posteriorly rotated ears, Prominent nasal bridge, Cryptorchidism, Wide nasal bridg...	OMIM:312830
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Micropenis, Ascites, Ankyloglossia, Brachydactyly	OMIM:602361
Opsismodysplasia	Depressed nasal bridge, Tapered finger, Hypoplastic vertebral bodies, Short nose, Abnormal metaph...	ORPHA:2746
Stickler Syndrome	Micrognathia, Depressed nasal ridge, Glossoptosis, Gastroesophageal reflux, Advanced eruption of ...	ORPHA:828
Lelis Syndrome	Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue	ORPHA:140936
Hartnup Disease	Glossitis, Skin rash, Gingivitis, Malabsorption	ORPHA:2116
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Co...	ORPHA:444077
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Broad hallux, Polyhydramnios, Protruding tongue, Micr...	OMIM:617062
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Gingivitis, Palmoplantar hyperkerato...	OMIM:173650
Hypomandibular Faciocranial Dysostosis	Pursed lips, Aglossia, Choanal stenosis, Micrognathia	OMIM:241310
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Gastroesophageal reflux	ORPHA:79243
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Abnormal pinna morpholog...	OMIM:616975
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Depressed nasal bridge, Broad hallux, Bowed hum...	OMIM:618019
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Clin...	ORPHA:2636
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Short palm, Hepatoblastoma, Posterior helix pit, Exaggerated median tongue furrow...	OMIM:312870
Distal Deletion 15Q	Thin upper lip vermilion, Hypospadias, Hearing impairment, Abnormality of the dentition, Broad na...	ORPHA:1596
Schwartz-Jampel Syndrome	Polyhydramnios, Micromelia, Micrognathia, Coxa vara, High palate, Low-set, posteriorly rotated ea...	ORPHA:800
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, Prominent nose, Microgna...	OMIM:619503
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Posteriorly rotated ears, Eosinophilia, Micrognathia, Cutis...	OMIM:617237
Agel Amyloidosis	Tongue atrophy, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Hearing impa...	ORPHA:85448
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Thickened ears, O...	ORPHA:77301
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypogonado...	OMIM:603457
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Short nose, Micrognathia	ORPHA:496790
Restrictive Dermopathy 1	Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Polyhydramnios, Rocker ...	OMIM:275210
Congenital Sialidosis Type 2	Edema, Protruding tongue, Gingival overgrowth, Polydactyly, Low-set ears, Ascites, Petechiae, Hea...	ORPHA:93400
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Erythematous oral mucosa, Chronic mucocutaneous candidiasis, Furrowed tongue, Melen...	OMIM:158310
Pituitary Adenoma 4, Acth-Secreting	Edema, Facial erythema, Ecchymosis, Striae distensae, Purpura	OMIM:219090
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia, Hearing impairment	OMIM:256600
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoes...	ORPHA:77298
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Redundant skin, Cutis laxa, Tooth agenesis, Everted lower lip ...	ORPHA:2963
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Pol...	OMIM:614557
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Protruding ear, C...	OMIM:614976
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes...	ORPHA:131
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Polyhydramnios, Micrognathia, Esophageal atresia, ...	ORPHA:3412
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T...	OMIM:604292
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hypospadias, Abnormal oral mucosa morphology, Micromelia, Abnormality ...	ORPHA:289
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor...	OMIM:266810
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Sensorineural hearing impairment, Narrow nar...	OMIM:122880
De Barsy Syndrome	Delayed eruption of teeth, Cryptorchidism, Small, conical teeth, Adducted thumb, Coxa vara, Cutis...	ORPHA:2962
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Meckel Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, True hermaphroditism, Aplasia/Hypopl...	ORPHA:564
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, An...	ORPHA:2250
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T...	OMIM:129900
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M...	OMIM:250250
Meester-Loeys Syndrome	Arachnodactyly, Gingival overgrowth, High palate, Broad distal phalanx of finger, Camptodactyly, ...	OMIM:300989
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Arachnodactyly, Abnormal pinna morphology, Micrognathia, Bulbous nose, Ol...	OMIM:614437
Omodysplasia 1	Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Cryp...	OMIM:258315
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Ascites, Esophageal varix, Nonimmune hydrops fetalis, Polyhydramnios	ORPHA:367
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Limb undergrowth, Microtia, Clinodactyly of the 5th f...	ORPHA:319675
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition	OMIM:616553
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix	OMIM:617341
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Arachnodactyly, Eczema, O...	ORPHA:83617
Carney Complex	Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Precocious puberty, N...	ORPHA:1359
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Acce...	ORPHA:434179
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Esophageal...	ORPHA:391641
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Ecchymosis, Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned cor...	OMIM:619321
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Redundant skin, Micrognathia, Periorbital edema, Pyloric stenosis, ...	OMIM:613177
Hereditary Folate Malabsorption	Eosinophilia, Cheilitis, Gastroesophageal reflux, Pallor, Glossitis	ORPHA:90045
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Micromelia, Deep philtrum, L...	ORPHA:1675
Penile Agenesis	Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Cryptorchidism, Anorectal anoma...	ORPHA:49
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta...	ORPHA:85170
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Scaling skin, Death in childhood, Neonatal death, Subungual hyperkeratosis, Dea...	OMIM:308205
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Hearing impairment, Enlarged polycystic ovaries...	ORPHA:201
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Baller-Gerold Syndrome	Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenosis, High palate, Conduct...	OMIM:218600
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Cryptorchid...	OMIM:609942
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Broad nasal tip, Small hand, Depressed nasal tip, Short foot, Micropen...	ORPHA:488434
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ti...	OMIM:613848
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia	OMIM:103300
Limb-Mammary Syndrome	Syndactyly, Psoriasiform dermatitis, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cut...	ORPHA:69085
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Mesom...	OMIM:616229
Classical Ehlers-Danlos Syndrome	Uterine prolapse, Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Cervical insufficiency,...	ORPHA:287
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Wide nose, Short nose, Micrognathia	OMIM:615851
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Overlapping toe, Rocker bottom foot, Hearing impairment, Tapered finger, 4-5 t...	ORPHA:488642
Becker Nevus Syndrome	Hypoplastic labia minora, Abnormal tibia morphology, Abnormality of the scrotum, Micromelia	ORPHA:64755
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia	ORPHA:1765
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, High palate, Uterine rupt...	ORPHA:60030
Fanconi Anemia, Complementation Group D2	Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Esophageal atresia, S...	OMIM:227646
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia	OMIM:224230
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb	OMIM:615272
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Bowing of the legs, Dental malocclus...	ORPHA:1855
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Microtia, third degree, Redundant skin, Ambiguous genitalia, Ab...	OMIM:200110
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia, Hearing impairment	OMIM:614153
Pallister-Killian Syndrome	Edema of the dorsum of feet, Tented upper lip vermilion, Small scrotum, Polyhydramnios, Micrognat...	OMIM:601803
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Macrotia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Protruding tongue, Micrognat...	OMIM:619777
Loeys-Dietz Syndrome 2	Syndactyly, Brachydactyly, Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial ...	OMIM:610168
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin ulcer, Re...	OMIM:615688
Multiple Osteochondromas	Deformed radius, Intestinal obstruction, Short metacarpal, Bowing of the long bones, Abnormal mor...	ORPHA:321
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Low-set ears, D...	OMIM:600460
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Polyhydramnios, Uplifted earlobe, Micrognathia, Short philtrum, Widely s...	OMIM:619841
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Hypospadias, Polyhydramnios, Micrognathia, Bifid ute...	OMIM:236680
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Sensorineural hearing impairment, Death in childhood, Tongue fasciculations, Dysp...	OMIM:211530
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Narrow nasal tip, Eczema, Prominent nasal bridge, Arachnodactyly, ...	ORPHA:464306
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae	OMIM:620133
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst, Striae distensae	OMIM:610475
Chronic Graft Versus Host Disease	Esophageal ulceration, Phimosis, Esophageal stricture, Erythema, Xerostomia, Abnormal vagina morp...	ORPHA:99921
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Dysphagia, Hearing impairment	ORPHA:276198
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Toe clinodactyly, Small scrotum, Sandal gap, Eczema, Posteriorly rotate...	OMIM:620330
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short foot, Short palm, Short nose, Smooth philtrum, Long philtrum	OMIM:614185
Aortic Aneurysm, Familial Thoracic 10	High palate, Dental crowding, Striae distensae	OMIM:617168
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Posteriorly rotated ears, Abnorma...	ORPHA:506358
Dyskeratosis Congenita, Autosomal Dominant 2	Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis, Abnormality of the dentition	OMIM:613989
Charge Syndrome	External genital hypoplasia, Polyhydramnios, Micrognathia, Hand monodactyly, Micropenis, Hypoplas...	OMIM:214800
Cholestasis, Progressive Familial Intrahepatic, 8	Pruritus, Esophageal varix	OMIM:619662
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr...	OMIM:615948
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Depressed nasal bridge, Dental crowding, Arachnodactyly, Excessive w...	OMIM:225400
Myopathy, Myofibrillar, 7	Tongue atrophy, Talipes equinovarus, Dysphagia	OMIM:617114
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Brachydactyly	OMIM:616028
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios	OMIM:263200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, High, narrow palate, Protruding ear, Short philtrum, High palate, Micropenis, Ante...	OMIM:619475
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing	OMIM:608728
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Micrognathia, Eso...	OMIM:265380
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Skin rash, Glossitis, Cleft palate	ORPHA:79284
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, G...	ORPHA:522077
Cerebrocostomandibular Syndrome	Death in infancy, Micrognathia, Conductive hearing impairment, Cleft palate, Glossoptosis, Atresi...	ORPHA:1393
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t...	ORPHA:79408
Cholesteryl Ester Storage Disease	Death in infancy, Esophageal varix, Steatorrhea	OMIM:278000
Viss Syndrome	Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Hyperextensible skin, High ...	OMIM:619472
Giant Cell Arteritis	Epistaxis, Recurrent pharyngitis, Skin ulcer, Gastrointestinal infarctions, Conductive hearing im...	ORPHA:397
Generalized Pustular Psoriasis	Pustule, Cheilitis, Pedal edema, Palmoplantar pustulosis, Erythroderma, Geographic tongue	ORPHA:247353
Mesomelic Dysplasia, Savarirayan Type	Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia	OMIM:605274
Occipital Horn Syndrome	Short humerus, Redundant skin, Hiatus hernia, Coxa valga, Capitate-hamate fusion, Genu valgum, Hy...	OMIM:304150
Aspartylglucosaminuria	Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, Malabsorption, Wide nas...	ORPHA:93
Marfan Syndrome	Dental crowding, Arachnodactyly, Equinus calcaneus, Metatarsus adductus, Micrognathia, Narrow pal...	OMIM:154700
Cadds	Short nose, Micrognathia, Sensorineural hearing impairment	ORPHA:369942
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Flared metaphysis, Limb undergrowth, Fibular overgrowth...	ORPHA:93352
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Wide nasal bridge, Cut...	ORPHA:284979
Marfan Syndrome	Dental crowding, Arachnodactyly, Micrognathia, Open bite, High, narrow palate, Cleft palate, Stri...	ORPHA:558
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural hearing impairment...	OMIM:618460
Williams Syndrome	Hypoplasia of penis, Redundant skin, Micrognathia, Periorbital edema, Rectal prolapse, Protruding...	ORPHA:904
8Q24.3 Microdeletion Syndrome	Branchial cyst, Micromelia, Cleft maxillary alveolar ridge, Finger clinodactyly, Gastroesophageal...	ORPHA:508488
Joubert Syndrome 1	Anteverted nares, Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macr...	OMIM:213300
Classic Homocystinuria	Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Esophageal varix, Genu valgum, High...	ORPHA:394
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tong...	ORPHA:79396
Cushing Disease	Acne, Intra-oral hyperpigmentation, Pedal edema, Skin ulcer, Recurrent cutaneous fungal infection...	ORPHA:96253
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae	OMIM:219080
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Macrotia, Short phalanx of finger	ORPHA:1422
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Striae distensae	ORPHA:189427
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Choanal atresia, Cleft upper lip, Micrognathia, Absent external...	OMIM:273395
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Protruding ear, Talipes equinovarus, Low-set ears, Premature ski...	OMIM:616603
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Dental m...	ORPHA:284984
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue	ORPHA:98795
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Tetraphocomelia, High palate, Phocomelia, Syndactyly, Hypoplasia of...	OMIM:268300
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Prominent nose, Micrognathia, Bilateral cryptorchidism, Deep philtrum, Protrud...	OMIM:150230
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Pruritus, Celiac disease, Hematemesis, Esophageal vari...	OMIM:301068
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Arachnodactyly, Submucous cleft soft palate, Absent thumb, Gastrointestin...	ORPHA:500150
Loeys-Dietz Syndrome 3	Uterine prolapse, Arachnodactyly, Eosinophilic infiltration of the esophagus, Cystocele, Dental m...	OMIM:613795
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly	OMIM:600092
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Low-set ears, Dysphagia, Hearing impairment	ORPHA:93399
Geroderma Osteodysplasticum	Hyperextensibility of the finger joints, Neonatal wrinkled skin of hands and feet, Cutis laxa, Fe...	OMIM:231070
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Sensorineural hearing impairment, Esophageal var...	ORPHA:2072
Cirrhosis, Familial	Ascites, Esophageal varix	OMIM:215600
Wrinkly Skin Syndrome	Delayed eruption of teeth, Broad nasal tip, Carious teeth, Cryptorchidism, Excessive skin wrinkli...	ORPHA:2834
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue	ORPHA:411511
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol...	ORPHA:666
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Intra-oral hyperpigmentat...	ORPHA:99889
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Decreased testicular size, Anteverted nares, Tarsal synostosis, Posteriorly ro...	OMIM:157800
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Long ear, Short nose	ORPHA:293948
Pyknoachondrogenesis	Palpebral edema, Micromelia, Depressed nasal ridge, Abnormality of mouth shape, Short ribs, Low-s...	ORPHA:3003
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy, Penetrating foot ulcers, Sensorineural hearing im...	ORPHA:99956
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Dysphagia	ORPHA:36426
Williams-Beuren Syndrome	Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th finger, Microdontia, Micropenis...	OMIM:194050
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Depressed nasal ridge, Esophageal ...	ORPHA:731
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Absent radius, Esophag...	OMIM:192350
Down Syndrome	Redundant neck skin, Aganglionic megacolon, Sandal gap, Protruding tongue, Conductive hearing imp...	OMIM:190685
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Flexion contracture of finger, Sensorineural...	ORPHA:101085
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae	OMIM:610489
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Bilateral cryptorchidism, Bulbous nose, Wide nasal bridge, Cutis laxa, Protruding...	OMIM:617403
Caroli Disease	Pruritus, Cholangiocarcinoma, Ascites, Esophageal varix	ORPHA:53035
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Hypospadias, Allergic rhinitis, Sensorineural hearing impairment, Chordee, H...	OMIM:176690
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Necrolytic migratory erythema, Pr...	ORPHA:97280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Esophageal varix, Hepatocellular adenoma, Polycystic ovaries	ORPHA:264580
Wilson Disease	Edema, Esophageal varix, Pedal edema, Dysphagia, Hepatocellular carcinoma, Hyposmia, Ascites	OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Intestinal malrotation, Esophageal varix, Anasarca, High palate, Gastroesophageal ...	OMIM:613658
Cutis Laxa, Autosomal Dominant 1	Redundant skin, Cutis laxa, Hyperextensible skin, Long philtrum, Uterine prolapse, Convex nasal r...	OMIM:123700
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Adrenocortical Carcinoma	Striae distensae	ORPHA:1501
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Hearing impairment, Protruding tongue	OMIM:619580
Barrett Esophagus	Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration	OMIM:614266
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta...	ORPHA:3206
Angelman Syndrome	Abnormality of the gastrointestinal tract, Precocious puberty in females, Protruding tongue, Wide...	ORPHA:72
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Imerslund-Gräsbeck Syndrome	Glossitis, Pallor, Angular cheilitis	ORPHA:35858
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Eczema, Premature loss of primary teeth, Abnormality of the dentition...	ORPHA:1810
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Short nose, Thick vermilion border, Recurrent gastroenteritis	ORPHA:505248
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue	ORPHA:98794
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Gastroesophageal reflux, Protruding tongue	OMIM:614325
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Sensorineural hearing impairment, Hammertoe, Tongue fasciculations, Difficulty in...	ORPHA:99949
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Esophageal varix, Epistaxis, Gastrointestinal hemorrhage	ORPHA:774
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Esophageal atresia, Sensorineural heari...	OMIM:206900
Microphthalmia, Syndromic 6	Small scrotum, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Clinodactyly of the 5...	OMIM:607932
Lysosomal Acid Lipase Deficiency	Pruritus, Esophageal varix, Dehydration, Steatorrhea, Ascites	ORPHA:275761
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Edema, Abnorm...	ORPHA:79404
Kawasaki Disease	Skin rash, Edema, Recurrent pharyngitis, Cheilitis, Palmoplantar erythema, Glossitis	ORPHA:2331
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Depressed nasal bridge, Anteverted nares, Edema, Polyhydramnios, Postaxial polydactyl...	OMIM:619534
Lipodystrophy, Familial Partial, Type 7	Facial wrinkling, Narrow nasal ridge, Dysphagia, Pleural effusion, Low-set ears, Narrow mouth, Sh...	OMIM:606721
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Atopic dermatitis, Congenital finger flexion contractures, Flexion contracture of...	ORPHA:466768
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Adducted thumb, Cutis laxa, Increased number of skin folds, ...	ORPHA:90348
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thic...	ORPHA:653
Caroli Syndrome	Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena	ORPHA:480520
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Protruding tongue	ORPHA:53351
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Arima Syndrome	Wide mouth, Postaxial foot polydactyly, Esophageal varix, Postaxial hand polydactyly	OMIM:243910
Cutis Laxa, Autosomal Recessive, Type Ia	Oligohydramnios, Arachnodactyly, Redundant skin, Cutis laxa	OMIM:219100
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Hematemesis, Enterocolitis, Skin ulcer, Inflamma...	ORPHA:707
Bilateral Perisylvian Polymicrogyria	Choanal atresia, Micrognathia, Protruding tongue, Pseudobulbar paralysis, Gastroesophageal reflux...	ORPHA:98889
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration, Low-set ears, Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Congenital Tracheomalacia	Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fistula, Cuti...	ORPHA:95430
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Low-set ears, Hearing impairment	ORPHA:468699
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Protruding tongue, Macroglossia, Gastroesophageal reflux, Dysphagia, Open mouth, Cerebral edema	ORPHA:258
Senior-Boichis Syndrome	Ascites, Esophageal varix	ORPHA:84081
Microsporidiosis	Glossitis, Abnormal endometrium morphology, Dehydration, Rhinitis, Abnormal fallopian tube morpho...	ORPHA:2552
Nelson Syndrome	Testicular neoplasm, Striae distensae	ORPHA:199244
Osteogenesis Imperfecta, Type Vii	Death in infancy, Rhizomelia, Micromelia, Bowing of the legs, Femoral retroversion, Coxa vara, Lo...	OMIM:610682
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Concave nasal ridge, Gas...	OMIM:619525
Peroxisome Biogenesis Disorder 4B	Short nose, Sensorineural hearing impairment	OMIM:614863
Neuroocular Syndrome	Hyperextensibility of the finger joints, Tapered finger, Unilateral deafness, Short uvula, Submuc...	OMIM:619539
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Esophageal stric...	OMIM:305000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Alström Syndrome	Abnormality of dental color, Precocious puberty in females, Hypergonadotropic hypogonadism, Testi...	ORPHA:64
Choreoacanthocytosis	Dysphagia, Protruding tongue	ORPHA:2388

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 Kdf1

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 Kdf1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα.	EMBO reports (April 2020)	Kdf1^{tm1a(EUCOMM)Wtsi}	32239614
Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells.	Developmental biology (September 2013)	Kdf1^{tm1a(EUCOMM)Wtsi}	PMC3841015

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
Kdf1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kdf1^{tm47031(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kdf1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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