Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fras1 related extracellular matrix protein 1
Synonyms:
crf11,  heb,  QBRICK,  eyes2,  eyem02Jus

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Frem1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Frem1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Frem1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Craniorhiny
Craniosynostosis, Wide nose, Anteverted nares, Turricephaly, Oxycephaly OMIM:123050
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly, Craniosynostosis ORPHA:1527
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Aurocephalosyndactyly
Short columella, Craniosynostosis OMIM:109050
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Anophthalmia, Anal stenosis, Nasolacrimal duct obstructio... ORPHA:2717
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon, Microphthalmia OMIM:123570
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Craniosynostosis, Absent middle phalanx of 2nd finger, Proximal placement of hallux... OMIM:218530
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Prominent metopic ridge, Bifid nose, Bifid nasal tip, Brachycephaly, Trigonocephaly OMIM:275595
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Trigonocephaly 2
Metopic synostosis, Trigonocephaly OMIM:614485
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose OMIM:218010
Summitt Syndrome
Oxycephaly, Syndactyly, Craniosynostosis OMIM:272350
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, Hallux valgus, Left un... OMIM:615314
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Corneal opacity, Renal hypoplasia/aplasia, Ankyloblepharon, Cleft pala... ORPHA:1234
Craniosynostosis 1
Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio... OMIM:123100
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Depressed nasal bridge, Absent la... OMIM:167730
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Flat occiput, Anteverted nares, Brachycephaly ORPHA:46
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, 2-3 toe syndactyly, Ectopia pupillae, Hypospadias, Microcornea, Coloboma, Epican... OMIM:615877
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, 2-3 toe syndactyly, Periorbital wrinkles, Hypermobility of inter... OMIM:227210
Frontofacionasal Dysplasia
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Microcornea, Short nose, Cataract, B... ORPHA:1791
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... OMIM:619736
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Bartsocas-Papas Syndrome 1
Corneal ulceration, Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Cicatricial lagophth... OMIM:263650
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Keloids, Skin vesicle, Milia, Erythematous papule, Atrophic ... ORPHA:79410
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Acrofrontofacionasal Dysostosis
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Aplasia/H... ORPHA:1784
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Craniosynostosis, Unilateral renal agenesis, Micrognathia, Depressed nasal bridg... ORPHA:1064
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma OMIM:165600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Micrognathia, Abnormality of the kidney, Depr... OMIM:616901
Ablepharon Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Corneal opacity, Absent eyebrow, Hypoplasia of penis, Excessive wrin... ORPHA:920
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Micropenis, Parietal foramina, Brachydactyly, Wormian bones, Dow... OMIM:601224
Burn-Mckeown Syndrome
Cleft upper lip, 2-3 toe syndactyly, Short palpebral fissure, Cleft palate, Unilateral renal agen... OMIM:608572
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Palmoplantar ke... ORPHA:218
Crossed Polysyndactyly
Hypoplasia of penis, Upslanted palpebral fissure, Postaxial hand polydactyly, Aplasia/Hypoplasia ... ORPHA:2935
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Choanal atresia, Midface retrusion, Craniosynostosis OMIM:612247
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate, Respiratory infections in early life OMIM:248110
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Thickened calvaria, Increased bone mineral density, Craniosynostosis ORPHA:178377
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Clinodactyly, Short foot, Short palm, Short... OMIM:615170
Lichen Planus Pemphigoides
Skin vesicle, Blepharitis, Conjunctivitis, Hyperkeratosis ORPHA:254478
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Summitt Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Promine... ORPHA:3210
Dowling-Degos Disease
Hypermelanotic macule, Penile freckling, Abnormality of the hand, Epidermoid cyst, Hypopigmented ... ORPHA:79145
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Cutis laxa, Craniosynostosis, De... OMIM:619451
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Craniosynostosis, Micrognathia, Hypospadias, Thin vermilion border, Renal agenesis, D... ORPHA:171839
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Epicanthus, Short nose,... ORPHA:217340
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Fr... ORPHA:380
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, 1-3 toe syndactyly, Downslanted palpebral fissures, Broad hallux, Scaphocephaly... OMIM:175700
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Anal stenosis, Anteriorly placed anus, Microphthalmi... OMIM:248450
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, C... OMIM:136760
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Fraser Syndrome 1
Cleft palate, Depressed nasal bridge, Cleft ala nasi, Aplasia/Hypoplasia of the phalanges of the ... OMIM:219000
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... OMIM:123150
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, St... ORPHA:2869
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Premature posterior fontanelle closure, Small anterior fontanelle, Sagittal c... OMIM:314320
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Downslanted palpebral fissures, Abnormal ... OMIM:268850
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Upslanted palpebral fissure, Retrognathia, Micrognathia, Unilateral... OMIM:618142
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Flared lower limb metaphysis, Cleft palate, Retrognathia, Micrognathia, Femoral bowin... OMIM:616462
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Dry skin, Renal dysplasia, Lower limb ... OMIM:218650
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Dentinogenesis imperfecta, Palmoplantar cutis laxa, Congenital hip di... OMIM:229200
Delayed Membranous Cranial Ossification
Depressed nasal ridge, Prominent occiput, Frontal bossing, Midface retrusion, Decreased skull oss... ORPHA:3034
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Craniosynostosis OMIM:608432
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Downslanted palpebral fissures, Epicanthus, Joint hyperflexibilit... ORPHA:238446
Frontofacionasal Dysplasia
Cleft upper lip, Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid uvul... OMIM:229400
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Finger syndactyly, E... ORPHA:1515
Fraser Syndrome 2
Cryptophthalmos, Cutaneous syndactyly, Renal hypoplasia OMIM:617666
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Frontal bossing, Orbital craniosynostosis ORPHA:1538
Treacher Collins Syndrome 3
Cleft palate, Micrognathia, Coloboma, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Small anterior fonta... ORPHA:3369
Nager Syndrome
Joint stiffness, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Unilateral renal ... ORPHA:245
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Long fingers, ... ORPHA:1617
Fraser Syndrome 3
Short toe, Cryptophthalmos, Convex nasal ridge, Micrognathia, Cutaneous syndactyly, Hypoplasia of... OMIM:617667
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Talipes equinovarus, Cutis laxa, Adducted thumb, Unilateral renal agenesis, Dela... OMIM:616603
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Anophthalmia, Pulmonary hypoplasia, Microphthalmia, Cryptorchidism OMIM:615524
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Microphthalmia, Isolated 8
Microphthalmia, Short palpebral fissure, Retinal coloboma, Optic nerve hypoplasia, Retinal detach... OMIM:615113
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Erythematous plaque, Striae distensae, Erythematous papul... ORPHA:64745
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Abnormality of the ur... ORPHA:1695
Dubowitz Syndrome
High palate, Craniosynostosis, Depressed nasal bridge, Delayed eruption of teeth, Rectal prolapse... ORPHA:235
Abruzzo-Erickson Syndrome
Short toe, Cleft palate, Hypospadias, Coronal hypospadias, Brachydactyly, Microcornea, Radioulnar... ORPHA:921
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Coloboma OMIM:251505
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Plagiocephaly, Postaxial polydactyly, Unilateral renal agenesis, Pro... OMIM:616362
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, Short foot, Cl... OMIM:300577
Sweeney-Cox Syndrome
High palate, Anal atresia, Short clavicles, Wide anterior fontanel, Gastroesophageal reflux, Clef... OMIM:617746
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Ablepharon-Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Talipes equinovarus, Absent eyebrow, Clinodactyly of the 5th finger,... OMIM:200110
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Craniosynostosis, Dolichocephaly, Micrognathia, Downslanted palpe... ORPHA:1516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Depressed nasal bridge, Delayed eruption of teeth, Rectal prolapse, Horseshoe kidney, Talipes equ... OMIM:235510
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Neu-Laxova Syndrome 2
High palate, Ablepharon, Cleft palate, Depressed nasal ridge, Micrognathia, Cataract, Rocker bott... OMIM:616038
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Epicanthus, Synophrys, Abno... ORPHA:3268
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Widely patent fontanelles and sutures, Everted lower lip vermilion, Hypospad... OMIM:603463
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly OMIM:614416
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cone-shaped epiphysis, Tapered finger, Downslanted palpebral fissures, Broad hallux, Midface retr... OMIM:618659
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Microtriplication 11Q24.1
Clinodactyly of the 5th finger, Thick eyebrow, Joint dislocation, Cleft palate, Upslanted palpebr... ORPHA:289522
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Delayed eruption ... OMIM:157980
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Craniofrontonasal Dysplasia
High palate, Midline defect of the nose, Plagiocephaly, Clinodactyly of the 5th finger, Finger sy... ORPHA:1520
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Epicanthus, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Upper eyelid coloboma, Aplasia/Hypoplas... ORPHA:2095
Aplasia Cutis Congenita
Calvarial skull defect, Congenital localized absence of skin, Abnormality of bone mineral density... ORPHA:1114
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Craniosynostosis, Dolichocephaly, Deep palmar crease,... OMIM:616580
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia, Telecanthus OMIM:206750
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Midface retrusi... OMIM:250215
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
2-3 toe syndactyly, Joint hypermobility, Micropenis, Unilateral renal agenesis, Micrognathia, Cam... OMIM:619951
Muenke Syndrome
High palate, Dental malocclusion, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... OMIM:602849
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short nose, Cataract, Hemiatro... ORPHA:163649
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Depre... ORPHA:93329
Trigonocephaly 1
Craniosynostosis, Long penis, Preauricular skin tag, Synophrys, Trigonocephaly OMIM:190440
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Dolichocephaly, Phosphoethanolaminuria, Frontal bossing, Sk... OMIM:241510
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Chromosome 5P13 Duplication Syndrome
High palate, Bulbous nose, Short palpebral fissure, Upslanted palpebral fissure, Craniosynostosis... OMIM:613174
Craniosynostosis 2
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... OMIM:604757
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Epicanthus, Short nose, Frontal bossing, Hydronep... ORPHA:1450
Rhiny
Anteverted nares, Short nose OMIM:180360
Anophthalmia Plus Syndrome
Cleft palate, Abnormal nasal morphology, Deviation of finger, Bilateral cleft lip and palate, Non... ORPHA:1104
Keratoconus Posticus Circumscriptus
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... OMIM:244600
Carpenter Syndrome
Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Cloverleaf skull, ... ORPHA:65759
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Aganglionic megacolon OMIM:235740
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Osteopenia, Megalocornea, Pyloric stenosis, Downslanted palpebral... ORPHA:2409
Fraser Syndrome
High palate, Depressed nasal bridge, Cleft ala nasi, Ectopic anus, Anal atresia, Cleft upper lip,... ORPHA:2052
Arthrogryposis, Distal, Type 5
High palate, Decreased palmar creases, Bilateral talipes equinovarus, Arachnodactyly, Limited wri... OMIM:108145
Barber-Say Syndrome
Ablepharon, Ectropion, Bulbous nose, Aplasia/Hypoplasia of the eyebrow, Redundant skin, Sparse or... ORPHA:1231
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short nose, Genu valgum, Patellar dislocation, Wide nasal bridge OMIM:614078
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... OMIM:615990
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, High, narrow palate, Slender finger, Micropenis, Dolichocephal... ORPHA:2872
Lowry-Maclean Syndrome
Convex nasal ridge, Craniosynostosis OMIM:600252
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Brachydactyly, Abnormal renal morphology, Limb undergrowt... ORPHA:221054
Treacher Collins Syndrome 4
Cleft palate, Micrognathia, Downslanted palpebral fissures, Lower eyelid coloboma, Choanal stenosis OMIM:618939
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Ulnar deviation of the wrist, Short nose, Anteverted nares... OMIM:618577
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft palate, Broad nasal tip, Tapered finger, Short nose, Tented upper lip vermilion, Anteriorly... OMIM:239300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Hematuria, Coloboma, Cataract, Ptosis OMIM:120433
Oculoauriculofrontonasal Syndrome
Cleft palate, Micrognathia, Upper eyelid coloboma, Limbal dermoid, Bifid nasal tip, Wide nose, Un... ORPHA:398156
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Overlapping toe, Velopharyngeal ins... ORPHA:363444
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligodactyly, Camptodactyly of ... OMIM:206920
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Aplasia/Hypoplasia of the skin, Skin vesicle, Dermal atrophy, Ptosis ORPHA:257
Pfeiffer Syndrome
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Depressed nasal ... OMIM:101600
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis, Sparse eyebrow, Sparse eyelashes OMIM:613102
Crouzon Syndrome
Narrow palate, Convex nasal ridge, Midface retrusion, Frontal bossing, Iris coloboma, Multiple su... ORPHA:207
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Plagiocephaly, Unilateral renal agenesis, Downslanted palpebral fis... ORPHA:2673
14Q11.2 Microdeletion Syndrome
High palate, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge,... ORPHA:261120
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Brachycephaly, Cleft palate, Upslanted palpebral fissure, Unilateral renal agene... OMIM:619504
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Camptodactyly... OMIM:300244
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... ORPHA:3306
Helsmoortel-Van Der Aa Syndrome
Everted lower lip vermilion, Small hand, Broad nasal tip, Advanced eruption of teeth, Downslanted... OMIM:615873
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Cleft palate, Craniosynostosis, Micrognathia, Abnormality of the upper urinar... ORPHA:2145
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Lack of skin elasticity, C... ORPHA:178303
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Acrofacial Dysostosis 1, Nager Type
Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Downslanted palpebra... OMIM:154400
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Jacobsen Syndrome
Clinodactyly of the 5th finger, Flexion contracture, Micrognathia, Hypospadias, Depressed nasal b... OMIM:147791
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Talipes equinovarus, Cleft palate, Micropenis, Dolichocephaly, Recurrent upper respi... OMIM:300209
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Depressed nasal bridge, Microcornea, Short nose, Mandibular prognathia, Midface retr... ORPHA:1327
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Cleft palate, Craniosynostosis, Biparietal narrowing, Camptodactyly of... ORPHA:251038
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Bifid nose, Frontal bossing, Triphalangeal thumb, Midline defect of th... OMIM:256690
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Micr... OMIM:201000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Depress... OMIM:607597
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Congenital diaphragmatic hernia,... ORPHA:1834
Gomez-Lopez-Hernandez Syndrome
High palate, Wide anterior fontanel, Craniosynostosis, Thin vermilion border, Opacification of th... OMIM:601853
Antley-Bixler Syndrome
Joint stiffness, Recurrent fractures, Elbow ankylosis, Cleft palate, Craniosynostosis, Arachnodac... ORPHA:83
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Broad na... OMIM:101800
Mandibulofacial Dysostosis With Mental Retardation
High palate, Micrognathia, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Pierpont Syndrome
Unilateral narrow palpebral fissure, Short toe, Prominent fingertip pads, Micropenis, Everted low... OMIM:602342
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Atypical scarring o... ORPHA:294975
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Overlapping toe, Convex nasal ridge, Micropenis, Micrognathia, Hypoplasia of the tooth germ, Bifi... ORPHA:293967
Postaxial Acrofacial Dysostosis
Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Downslanted palpeb... ORPHA:246
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Branchio-Oculo-Facial Syndrome
High palate, Upslanted palpebral fissure, Everted lower lip vermilion, Renal agenesis, Dolichocep... ORPHA:1297
Craniosynostosis 4
Pansynostosis, Coronal craniosynostosis, Depressed nasal bridge, Sagittal craniosynostosis, Metop... OMIM:600775
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Short palpebral fissure, Low hanging columella... OMIM:613680
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis OMIM:218450
Macrocephaly-Developmental Delay Syndrome
High palate, Clinodactyly of the 5th finger, Microretrognathia, Craniosynostosis, Palpebral edema... ORPHA:397612
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Cutaneous... ORPHA:1306
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Limba... ORPHA:3339
Hartsfield Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Downslanted palpebral fissures, Telecanth... ORPHA:2117
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Intestinal mal... OMIM:601163
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Parakeratosis, Erythema migrans ORPHA:158681
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Dolichocephaly, Cutaneous syndactyly of toes, Metatarsal synost... OMIM:612961
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Upslanted palpebral fissure, Short phalanx of finger, Tapered finger, Lo... OMIM:613458
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Jacobsen Syndrome
Microcornea, Pyloric stenosis, Downslanted palpebral fissures, Short nose, Cataract, Ectopic anus... ORPHA:2308
Oculocerebrocutaneous Syndrome
Orbital cyst, Congenital hip dislocation, Anophthalmia, Microphthalmia, Focal dermal aplasia/hypo... OMIM:164180
Postaxial Acrofacial Dysostosis
Cleft upper lip, Ectropion, Cleft palate, Micropenis, Hypoplasia of the radius, Micrognathia, Abn... OMIM:263750
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal p... OMIM:120400
Distal Monosomy 10Q
High palate, Cleft palate, Craniosynostosis, Prominent fingertip pads, Tapered finger, Downslante... ORPHA:96148
Serkal Syndrome
Sex reversal, Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Malrotatio... ORPHA:139466
Curry-Jones Syndrome
Craniosynostosis, Intestinal malrotation, Syndactyly, Duplication of thumb phalanx, Cutaneous syn... OMIM:601707
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Depressed nasal ... ORPHA:2399
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema, Allergic rhinitis, Keratoconus, Cataract, Conjunctivitis OMIM:603165
Proboscis Lateralis
High palate, Abnormal morphology of bony orbit of skull, Abnormal location of the eyebrow, Microc... ORPHA:141099
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft palate, Multiple renal cysts, Ab... ORPHA:1166
Frontonasal Dysplasia 3
Absent eyebrow, Cleft palate, Sparse eyelashes, Upper eyelid coloboma, Microphthalmia OMIM:613456
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... ORPHA:96170
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Thin calvarium, Delayed cranial suture closure, Frontal bossing, Short nose, Midface retrusion ORPHA:1129
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Corneal opacity, Calvarial skull defect, Aplasia/Hypoplasia of th... ORPHA:1647
Bartsocas-Papas Syndrome 2
Corneal opacity, Wide anterior fontanel, Ankyloblepharon, 2-5 finger cutaneous syndactyly, Small ... OMIM:619339
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Brachycephaly, Craniosynostosis, Depressed nasal bridge, Downslanted palpebral fissu... ORPHA:314575
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Osteopenia, Short femo... OMIM:616723
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Sparse eyelashes, Glossoptosis, Micrognathia, Hydroureter, Everted lower lip vermil... OMIM:616367
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Dermatitis Herpetiformis
Skin vesicle, Macule, Recurrent fractures, Erythema ORPHA:1656
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Taurodontia, Cutis laxa, Thin vermilion border, Cutaneous finger ... OMIM:614378
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Short nose, Midface retrusion, Delayed epiphyseal ossification OMIM:618618
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Delayed cranial suture closure, Cone-shaped epiphysis, A... ORPHA:2511
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Micrognathia, Camptoda... ORPHA:2863
Nablus Mask-Like Facial Syndrome
High palate, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Retrognathia, Craniosynos... OMIM:608156
Fetal Encasement Syndrome
Horseshoe kidney, Congenital diaphragmatic hernia, Omphalocele, Increased urinary 8-oxo-7,8-dihyd... OMIM:613630
Neu-Laxova Syndrome 1
Cleft upper lip, Ablepharon, Joint contracture of the hand, Cleft palate, Renal agenesis, Microgn... OMIM:256520
Williams-Beuren Region Duplication Syndrome
High palate, Unilateral renal agenesis, Micrognathia, Broad nasal tip, Horizontal eyebrow, Long e... OMIM:609757
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Pemphigus Foliaceus
Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acantholysis, Ery... ORPHA:79481
Pyoderma Gangrenosum
Rheumatoid arthritis, Papule, Atrophic scars, Skin ulcer, Skin vesicle ORPHA:48104
Muenke Syndrome
Carpal synostosis, Plagiocephaly, Hypermelanotic macule, Coronal craniosynostosis, Cone-shaped ep... ORPHA:53271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares OMIM:614069
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Finger syndactyly, Depressed nasal ridge, Abnormal penis morphology, Delayed cranial ... ORPHA:2211
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Coffin-Lowry Syndrome
High palate, Drumstick terminal phalanges, Tapered finger, Downslanted palpebral fissures, Single... OMIM:303600
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy OMIM:615983
Frontoocular Syndrome
High palate, Trigonocephaly, Short palpebral fissure, Upslanted palpebral fissure, Coronal cranio... OMIM:605321
Curry-Jones Syndrome
Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand polydactyly, Aplasia/Hypoplasia of ... ORPHA:1553
Hao-Fountain Syndrome
Delayed cranial suture closure, Trigonocephaly, Large fontanelles OMIM:616863
Apert Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Brachyturricephaly, Cutan... OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Bulbous nose, Upslanted palpebral fissure, Postaxial polydactyly, Micrognathia, Hy... OMIM:615761
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Takenouchi-Kosaki Syndrome
Bulbous nose, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Midface retrusion, ... OMIM:616737
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Craniofacial-Deafness-Hand Syndrome
Lacrimal duct atresia, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed na... ORPHA:1529
Verheij Syndrome
Renal agenesis, Short 5th finger, Coloboma, Renal cyst, Thin upper lip vermilion, Renal hypoplasi... OMIM:615583
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Bulbous nose, Broad nasal tip, Depressed nasal bridge, Tapered finger, Anal atresia,... OMIM:613792
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Horseshoe k... ORPHA:959
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Midface retrusion DECIPHER:52
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Gastroesophageal reflux, Microretrognathia, Cleft palate, Craniosynostosis, Intest... ORPHA:457193
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Downslanted palpebral fissures, Rocker bottom foot, Midface retrusion, Talipes ... OMIM:301056
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Intestinal malrotation, Brachydactyly, Short thumb, Limited elbow extensi... ORPHA:401935
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Short metatarsal, Short palpebral fissure, Ap... OMIM:614814
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Nail-Patella Syndrome
Cleft palate, Microcornea, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps a... OMIM:161200
Cdags Syndrome
Anal atresia, Brachycephaly, Ectropion, Short clavicles, Sparse eyebrow, Cleft palate, Sparse eye... OMIM:603116
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Distal Trisomy 5Q
Absent thumb, Craniosynostosis, Thin vermilion border, Micrognathia, Hypospadias, Hypoplasia of t... ORPHA:96097
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Unilateral renal agenesis, Abnormal cortical bone morphology, Thin u... ORPHA:2512
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Mesomelic Dysplasia, Nievergelt Type
Micromelia, Radioulnar synostosis, Abnormality of fibula morphology, Genu valgum, Elbow dislocati... ORPHA:2633
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Dolichocephaly, Micrognathia, C... ORPHA:1716
Baraitser-Winter Cerebrofrontofacial Syndrome
Long nose, Abnormality of the upper urinary tract, Depressed nasal tip, Microcornea, Optic disc c... ORPHA:2995
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Schisis Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Tracheoesophageal fi... ORPHA:63862
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Micrognathia, Brachydactyly, Camptodactyly, Downslanted palpebral fiss... OMIM:613604
Osteogenesis Imperfecta, Type Xii
Depressed nasal bridge, Brachyturricephaly, Wormian bones, Osteoporosis, Generalized osteoporosis... OMIM:613849
Chromosome 16Q22 Deletion Syndrome
High palate, Wide anterior fontanel, Short palpebral fissure, Upslanted palpebral fissure, Microg... OMIM:614541
2Q31.1 Microdeletion Syndrome
Bulbous nose, Cleft palate, Optic disc coloboma, Tapered finger, Downslanted palpebral fissures, ... ORPHA:251014
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Delayed cranial suture closure, Short nose, Large fontanelles, Anteverted ... ORPHA:1832
Warburg-Cinotti Syndrome
High palate, Joint swelling, Flexion contracture of finger, Symblepharon, Corneal neovascularizat... OMIM:618175
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Micrognathia, Short 1st metacarpal, Downslanted palpebral fissure... OMIM:201050
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Tapered fing... OMIM:600920
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Intestinal mal... OMIM:613684
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Absent eyebrow, Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia,... OMIM:308205
Chromosome 10Q26 Deletion Syndrome
Flared nostrils, Convex nasal ridge, Craniosynostosis, Upslanted palpebral fissure, Micrognathia,... OMIM:609625
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Downslanted... OMIM:166250
Ritscher-Schinzel Syndrome 1
Anal atresia, Cleft palate, Micrognathia, Hypospadias, Depressed nasal bridge, Syndactyly, Promin... OMIM:220210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, La... OMIM:618736
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Downslanted palpebral fissures, Abnormal localization of ... ORPHA:195
Branchioskeletogenital Syndrome
Craniosynostosis, Broad nasal tip, Depressed nasal bridge, Bladder exstrophy, Carious teeth, Down... ORPHA:1299
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion bor... ORPHA:2370
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Plagiocephaly, Cleft palate, Upslanted palpebral fissure, Anterior plagiocephaly, S... OMIM:614749
Hamamy Syndrome
High palate, Sparse eyebrow, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger... OMIM:611174
Cenani-Lenz Syndrome
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Downslanted palpebral fissures, Hypo... ORPHA:3258
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Gastroesophageal reflux, Cutis laxa, Tracheomalacia, Retrognathia, Microgna... OMIM:613177
17P13.3 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip dislocation, Dow... ORPHA:217385
Chung-Jansen Syndrome
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Tap... OMIM:617991
Ectodermal Dysplasia With Mental Retardation And Syndactyly
2-3 toe syndactyly, Sparse eyebrow, Long palpebral fissure, Dry skin, 3-4 finger syndactyly, Apla... OMIM:600906
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, Camptodactyly, Split... OMIM:225280
Gapo Syndrome
Nephrolithiasis, Sparse eyebrow, Sparse eyelashes, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:2067
Treacher-Collins Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Downslanted palpebral fissures, Hypoplasia ... ORPHA:861
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Wells Syndrome
Skin vesicle ORPHA:901
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Coxa valga, Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Cree Mental Retardation Syndrome
Micrognathia, Hypospadias, Coloboma, Downslanted palpebral fissures, Rocker bottom foot, Cutaneou... OMIM:606851
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Multiple joint contractures, Decreased palmar creases, Slender finger, Cleft palate, Craniosynost... OMIM:218649
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... OMIM:194080
Baraitser-Winter Syndrome 1
Cleft upper lip, Trigonocephaly, Micropenis, Retrognathia, Long palpebral fissure, Midface retrus... OMIM:243310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Hors... OMIM:609945
Treacher Collins Syndrome 2
Cleft palate, Micrognathia, Coloboma, Downslanted palpebral fissures, Choanal atresia, Choanal st... OMIM:613717
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Short nose, Craniosynostosis OMIM:614732
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital diaphragmatic ... ORPHA:2141
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly placed anus OMIM:617661
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Upslanted palpebral fissure, Retrognathia, Microcornea, Epicanthus, Cataract, Brachy... ORPHA:2528
Non-Syndromic Posterior Hypospadias
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Micropenis, Urethral diverticulum, V... ORPHA:95706
Ganglioneuroma
Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Abnormal... ORPHA:251992
Oligomeganephronia
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Pulmonary venous occlusion... ORPHA:2260
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Craniosynostosis, Brachydactyly, Hydronephrosis, Arthrogryposis mu... OMIM:618265
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Baraitser-Winter Syndrome 2
Trigonocephaly, Retrognathia, Long palpebral fissure, Coloboma, Telecanthus, Thin upper lip vermi... OMIM:614583
Acromicric Dysplasia
Abnormal eyebrow morphology, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, ... ORPHA:969
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia OMIM:613885
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Short 1st metacarpal, Advanced eruption of teeth, Tapered finger,... ORPHA:949
Edinburgh Malformation Syndrome
Joint stiffness, Slender finger, Thin vermilion border, Micrognathia, Long fingers, Ulnar deviati... ORPHA:1895
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Short nose, Thin upper lip vermilion, Juvenile cat... ORPHA:438178
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Abnormal pupil morphology, Renal hypoplasia/a... ORPHA:52
Trisomy 12P
Anal atresia, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate, Everted lower lip verm... ORPHA:1699
Cranioectodermal Dysplasia 3
Cutis laxa, Nephronophthisis, Everted lower lip vermilion, Micrognathia, Dolichocephaly, Postaxia... OMIM:614099
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Sparse eyebrow, Sparse eyelashes, Camptodactyly of finger, Finger clinodactyly, Bra... ORPHA:306542
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Cleft palate, Craniosynostosis, Short nose, Long eyelashes, Hypoplasia of the maxill... OMIM:213980
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... ORPHA:1471
Craniodigital-Intellectual Disability Syndrome
Thick eyebrow, Micrognathia, Narrow nasal bridge, Short nose, Long eyelashes, Brachycephaly, Fing... ORPHA:1514
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Ant... OMIM:600057
Mental Retardation Syndrome, Belgian Type
Mandibular prognathia, Cleft ala nasi, Wide nose, Coloboma OMIM:249599
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Microphthalmia, Isolated 3
Anophthalmia, Ankyloblepharon, Microphthalmia OMIM:611038
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgu... OMIM:619194
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Microco... OMIM:257850
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Gapo Syndrome
Eruption failure, Wide anterior fontanel, High, narrow palate, Sparse eyebrow, Sparse eyelashes, ... OMIM:230740
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Finger syndactyly, Small hand, Abnormality o... ORPHA:281
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia ORPHA:209964
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Broad hallux, Short nose, San... OMIM:311300
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Coronal craniosynostosis, Micrognathia, Small hand, Depressed nasal ... OMIM:145420
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Turricephaly OMIM:616602
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Cleft palate, Sparse eyebrow, Small hand, Micrognathia, Abnormality of the kidney,... ORPHA:459061
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchio... OMIM:615993
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Retrognathia, Unilateral renal agenesis, Hyperechogenic kidneys, Dry skin,... OMIM:614576
3Mc Syndrome 2
Cleft upper lip, Joint hypermobility, Cleft palate, Prominence of the premaxilla, Craniosynostosi... OMIM:265050
Frontometaphyseal Dysplasia
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Ureteral obstruction, Limitatio... ORPHA:1826
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Short fourth metatarsal, Retrognathia, Thin vermilion border, Brachydactyl... ORPHA:464288
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal tip, Craniosynostosis, Upslanted palpebral fissure, Micrognathia, Epicanthus, Fro... OMIM:619873
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Peutz-Jeghers Syndrome
Bladder polyp, Neoplasm of the pancreas, Intestinal bleeding, Multiple gastric polyps, Intussusce... OMIM:175200
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia ORPHA:99811
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal dysplasia, Sparse eyebrow, Craniosynostosis, Sparse e... OMIM:250410
Clark-Baraitser Syndrome
High palate, Brachycephaly, Low hanging columella, Upslanted palpebral fissure, Dolichocephaly, D... OMIM:617752
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Camptodactyly of finger, Bilateral ptosis, Jaundice OMIM:214980
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Micropenis, Delayed cranial suture closure... OMIM:113000
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Developmental And Epileptic Encephalopathy 73
Short nose, Midface retrusion, Flexion contracture, Narrow nasal bridge OMIM:618379
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Convex nasal ridge, Sparse eyebrow, Unilateral renal agenesis, Thin vermilion borde... OMIM:618419
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Lacrimal duct aplasia, Split hand, Cutaneous finger syndactyly, T... DECIPHER:46
Bardet-Biedl Syndrome 12
Polydactyly, Rod-cone dystrophy OMIM:615989
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Dysphagia, Midfac... OMIM:614744
Distal 22Q11.2 Microduplication Syndrome
High palate, Bulbous nose, Depressed nasal ridge, Optic disc coloboma, Tapered finger, Downslante... ORPHA:261337
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallu... ORPHA:439822
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Roberts-Sc Phocomelia Syndrome
High palate, Cleft palate, Craniosynostosis, Shallow orbits, Long penis, Downslanted palpebral fi... OMIM:268300
Familial Scaphocephaly Syndrome, Mcgillivray Type
Upslanted palpebral fissure, Dolichocephaly, Broad hallux phalanx, Midface retrusion, Trigonoceph... ORPHA:168624
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Oculomaxillofacial Dysostosis
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Mi... ORPHA:1794
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Abnormality of the wrist, Epicanthus, Abnormal thumb m... ORPHA:1825
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Inguinal hernia, Multilobulated s... OMIM:601186
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Vacterl/Vater Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Hypoplasia of penis, Renal agenesis,... ORPHA:887
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Papule, Skin ulcer, Skin vesicl... ORPHA:2314
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Nanophthalmos 4
Microphthalmia OMIM:615972
Hennekam-Beemer Syndrome
Macule, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Delayed cranial suture closu... ORPHA:2135
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Abnormal lung lobation... OMIM:263210
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Short palpebral fi... ORPHA:2163
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Cran... ORPHA:1790
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Hypospadias, Downslant... OMIM:300978
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Unilateral renal agenesis, Anophthalmia, Cystic ... OMIM:156810
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Depressed nasal brid... ORPHA:457395
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unilateral renal agene... OMIM:601076
Brittle Cornea Syndrome 2
Flat cornea, Recurrent fractures, Megalocornea, Keratoconus, Keratoglobus, Joint hypermobility, S... OMIM:614170
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Bulbous nose, Microretrognathia, Cleft palate, Retinal coloboma, Dolichocephaly,... OMIM:618571
Braddock Syndrome
Unilateral renal agenesis, Micrognathia, Epicanthus, Blepharophimosis, Preaxial hand polydactyly ORPHA:52047
Fg Syndrome Type 1
High palate, Malrotation of colon, Craniosynostosis, Limited elbow extension and supination, Pylo... ORPHA:93932
Codas Syndrome
Depressed nasal bridge, Hydroureter, Congenital hip dislocation, Brachydactyly, Delayed eruption ... ORPHA:1458
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Sparse eyebrow, Upslant... ORPHA:884
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Downslanted palpebral fissures, Epicanthus, Short nose, Frontal bossing, Narro... OMIM:613603
Cebalid Syndrome
Plagiocephaly, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed nasal bridge, S... OMIM:618774
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Hiatus hernia, Bicornuate uterus, Unilateral renal agenesis, Increas... OMIM:606408
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... OMIM:216360
Iga Pemphigus
Skin erosion, Annular cutaneous lesion, Acantholysis, Skin plaque, Skin vesicle ORPHA:555905
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Short distal phalanx of the thumb, Dermatochalasis, Gastroesophageal reflux, Unilateral renal age... ORPHA:221139
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Abnormal lacrimal duct morphology, Absent thumb, Hypoplasia of the radius, Ab... ORPHA:2363
15Q24 Microdeletion Syndrome
Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hypospadias, Broad eyebrow, Dep... ORPHA:94065
Perlman Syndrome
High, narrow palate, Hypoplasia of penis, Retrognathia, Micrognathia, Dolichocephaly, Nephroblast... ORPHA:2849
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Cornelia De Lange Syndrome 2
High palate, Brachycephaly, Gastroesophageal reflux, Thick eyebrow, Small hand, Micrognathia, Bra... OMIM:300590
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Clinodactyly of the 5th finger, Short palpebral fissure, Sparse eyebrow, Sparse ... OMIM:613026
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Short hallux, Midface retrusion, Broad thumb, Hallux varus, Short foot, Bic... ORPHA:93258
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Microcornea, Short nose, Tented ... ORPHA:819
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Craniosynostosis, Microphallus, 2-5 finger syndactyly, Retrognathia,... ORPHA:468631
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Bulbous nose, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Upsl... OMIM:616789
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly, Recurrent respiratory infections, Microphthalmia ORPHA:2432
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Short columella OMIM:155050
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Proteus Syndrome
Calvarial hyperostosis, Dolichocephaly, Depressed nasal bridge, Limbal dermoid, Thin bony cortex,... OMIM:176920
Crouzon Syndrome
Keratitis, Coronal craniosynostosis, Shallow orbits, Frontal bossing, Sagittal craniosynostosis, ... OMIM:123500
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Tracheoesophageal fistula, Micrognathia, Bifid nose, Iris coloboma, Ectopic kidne... ORPHA:268249
Renal Agenesis
Anal atresia, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Broad nasal tip, Brachydactyly, Camptodactyly, Frontal bossing, Short nose, Long ey... OMIM:618529
7Q11.23 Microduplication Syndrome
High palate, Craniosynostosis, Broad nasal tip, Single transverse palmar crease, Horizontal eyebr... ORPHA:96121
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Swan neck-like deformities of the fingers, Upslanted palpebral fissure, Ever... OMIM:619880
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Skin dimple, Skin dimple over apex of long bone angulation... ORPHA:436
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Ptosis OMIM:300915
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... OMIM:614701
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Bardet-Biedl Syndrome 10
Polydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
3C Syndrome
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Ectopic anus, A... ORPHA:7
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility, Astigmatism OMIM:616721
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral fusion, Urete... OMIM:618845
Restrictive Dermopathy 2
Short clavicles, Gastroesophageal reflux, Microretrognathia, Convex nasal ridge, Rectal prolapse,... OMIM:619793
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Joint contracture of the hand, Macroglossia, Craniosynostosis, Arthropathy, Scaphoceph... OMIM:618523
Saethre-Chotzen Syndrome
Cleft palate, Long nose, Shallow orbits, Radioulnar synostosis, Partial duplication of the distal... OMIM:101400
Musculocontractural Ehlers-Danlos Syndrome
High palate, Decreased palmar creases, Slender finger, Cleft palate, Craniosynostosis, Malrotatio... ORPHA:2953
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dolichocephaly, Wormian bones, Pathologic fracture, Abnormal cortical bone morphology, Concave na... ORPHA:166277
Fetal Trimethadione Syndrome
High palate, Micrognathia, Hypospadias, Depressed nasal bridge, Bilateral single transverse palma... ORPHA:1913
Donnai-Barrow Syndrome
Bicornuate uterus, Congenital diaphragmatic hernia, Intestinal malrotation, Downslanted palpebral... ORPHA:2143
Aarskog-Scott Syndrome
Cleft palate, Megalocornea, Delayed eruption of teeth, Downslanted palpebral fissures, Single tra... ORPHA:915
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Convex nasal ridge, Absent hallux, Craniosynostosis, Dolichocephaly, Microcornea, Frontal bossing... OMIM:608279
Chromosome 17Q12 Deletion Syndrome
High palate, Sparse eyebrow, Depressed nasal bridge, Hypoplasia of the bladder, Upper limb underg... OMIM:614527
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Bulbous nose, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Sh... OMIM:614105
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Bulbous nose, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Tented upper lip ve... ORPHA:487796
Laurence-Moon Syndrome
Hypoplasia of penis, Brachydactyly, Bilateral single transverse palmar creases, Epicanthus, Iris ... ORPHA:2377
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... OMIM:102510
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Enuresis OMIM:613670
Emanuel Syndrome
High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate... OMIM:609029
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, Talipes equinovarus, 2-3 toe syn... OMIM:236500
White-Kernohan Syndrome
Depressed nasal bridge, Horizontal eyebrow, Long eyelashes, Horseshoe kidney, Tented upper lip ve... OMIM:619426
15q26 overgrowth syndrome
High palate, Bulbous nose, Craniosynostosis, Tapered finger, Downslanted palpebral fissures, Hors... DECIPHER:81
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Inguinal hernia, Narrow palpebral fissure, Bilateral microphthalmos, Decreased muscle mass, Cigar... OMIM:608763
Coffin-Siris Syndrome 7
Clinodactyly of the 5th finger, Thick eyebrow, Convex nasal ridge, Depressed nasal bridge, Brachy... OMIM:618027
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Elbow ankylosis, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Radiouln... ORPHA:95699
3Mc Syndrome 1
Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... OMIM:257920
Costello Syndrome
Narrow palate, Gastroesophageal reflux, Macroglossia, Lack of skin elasticity, Redundant skin, De... ORPHA:3071
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... OMIM:154780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short nose, Flexion contracture, Short femur, Micrognathia, Anteverted ... OMIM:616897
Maxillonasal Dysplasia
Short distal phalanx of finger, Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Abno... ORPHA:1248
Femoral-Facial Syndrome
Preaxial foot polydactyly, Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypo... ORPHA:1988
Aymé-Gripp Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Megalocornea, Tapered fin... ORPHA:1272
Non-Distal Trisomy 13Q
High palate, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Micrognathia, Ara... ORPHA:1702
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Plagiocephaly, Bulbous nose, Macroglossia, Upslanted palpebral fissure, Arthrogrypos... ORPHA:369891
Anencephaly 2
Anophthalm