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
Wide nose, Craniosynostosis, Oxycephaly, Turricephaly, Anteverted nares OMIM:123050
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Scaphocephaly, Turricephaly, Dolichocephaly OMIM:123100
Craniosynostosis, Philadelphia Type
Craniosynostosis, Long palpebral fissure, Finger syndactyly ORPHA:1527
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... OMIM:185900
Isolated Oxycephaly
Coronal craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Lambdoidal craniosynostosis ORPHA:63440
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose OMIM:218010
Aurocephalosyndactyly
Short columella, Craniosynostosis OMIM:109050
Oculotrichoanal Syndrome
Upper eyelid coloboma, Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction, Cryptophthalm... ORPHA:2717
Trigonocephaly 2
Trigonocephaly, Metopic synostosis OMIM:614485
Craniosynostosis 3
Hallux valgus, Ptosis, Craniosynostosis, Brachydactyly, Single transverse palmar crease OMIM:615314
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Short middle... OMIM:186000
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Microphthalmia, Cryptophthalmos OMIM:123570
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Trigonocephaly, Bifid nose, Bulbous nose, Prominent metopic ridge, Bifid nasal tip OMIM:275595
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all distal phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... OMIM:201020
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Popliteal pterygium, Micrognathia, Cleft palate, Toe syndactyly, Ankyl... ORPHA:1234
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly, Prominent metopic ridge, Short nose, Anteverted nares ORPHA:46
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Frontofacionasal Dysplasia
Cleft palate, Short nose, Telecanthus, Iris coloboma, Choanal atresia, Depressed nasal ridge, Dep... ORPHA:1791
Bartsocas-Papas Syndrome 1
Cleft palate, Talipes equinovarus, Short nose, Micropenis, Syndactyly, Pterygium, Cicatricial lag... OMIM:263650
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, Partial duplication of eyebrows, Hypermobility of interphalangeal joints, Lon... OMIM:227210
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Cloverleaf skull OMIM:148800
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Micrognathia, Sparse eyelashes, Depressed nasal bridge, Trigonocephaly, Craniosynostosis, Epicant... OMIM:616901
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Micrognathia, Depressed nasal bridge, Aniridia, Craniosynostosis, Telecanthus, Frontal bossing, D... ORPHA:1064
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Talipes equinovarus, Absent eyebrow, Absent eyelashes, Short metacarpal, Cryptoph... OMIM:200110
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Keloids, Mitten deformity, Erythematous papule, Atrophic scars, Skin erosi... ORPHA:79410
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Acrofrontofacionasal Dysostosis
Hypospadias, Cleft palate, High palate, Broad nasal tip, Eyelid coloboma, Ptosis, Brachycephaly, ... ORPHA:1784
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism of the 5th finger, Toe syndactyly, Reduced proximal interphalangeal joint space, Ab... ORPHA:3246
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Delayed Membranous Cranial Ossification
Depressed nasal ridge, Frontal bossing, Decreased skull ossification, Prominent occiput, Midface ... ORPHA:3034
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Epicanthus, Sandal gap, Th... ORPHA:217340
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Short philtrum, Brachycephaly, Sparse lateral eyebrow, Short nose, Tel... OMIM:601224
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Ablepharon Macrostomia Syndrome
Underdeveloped nasal alae, Toe syndactyly, Dry skin, Depressed nasal bridge, Corneal erosion, Mic... ORPHA:920
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Burn-Mckeown Syndrome
Underdeveloped nasal alae, Micrognathia, Cleft palate, 2-3 toe syndactyly, Short philtrum, Renal ... OMIM:608572
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... OMIM:167730
Isolated Cloverleaf Skull Syndrome
Midface retrusion, Convex nasal ridge, Craniosynostosis, Limitation of joint mobility ORPHA:2343
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Congenital extraocular muscle anomaly, Lower eyelid coloboma OMIM:165600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline ... OMIM:219000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Micrognathia, High palate, Depressed nasal bridge, Brachycephaly, Postaxia... OMIM:618142
Darier Disease
Plantar pits, Macule, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Acrokeratosis... ORPHA:218
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Chorioretinal coloboma, Lower limb undergrowth, Renal dysplasia, Craniosynost... OMIM:218650
Frontonasal Dysplasia 1
Broad nasal tip, Ptosis, Short columella, Epicanthus, Wide nasal bridge, Bifid nose, Joint contra... OMIM:136760
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Upslanted palpebral fissure, Finger syndactyly, Postaxial hand p... ORPHA:2935
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Toe syndactyly, Micrognathia, Renal agenesis, Depressed nasal bridge, Renal hypoplas... ORPHA:171839
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Choanal atresia, Craniosynostosis, Brachycephaly OMIM:612247
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia, Respiratory infections in early life OMIM:248110
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Increased bone mineral density, Brachycephaly ORPHA:178377
Richieri-Costa/Guion-Almeida Syndrome
Cleft palate, Palmoplantar cutis laxa, Ptosis, Mandibular prognathia, Brachycephaly, Cleft upper ... OMIM:268850
Lichen Planus Pemphigoides
Conjunctivitis, Hyperkeratosis, Blepharitis, Skin vesicle ORPHA:254478
Wahab Syndrome
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... OMIM:615170
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Eyelid coloboma, Ptosis, Brachycephaly, Ankyloblephar... OMIM:229400
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal cran... OMIM:614188
Dowling-Degos Disease
Hyperkeratotic papule, Abnormality of the hand, Epidermoid cyst, Palmar pits, Penile freckling, E... ORPHA:79145
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Broad hallux phalanx, Joint contracture of the hand, Broad hallux, Delayed cranial s... OMIM:175700
2Q24 Microdeletion Syndrome
Toe syndactyly, Cleft palate, Short philtrum, Abnormality iris morphology, Hand clenching, Long f... ORPHA:1617
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Finger syndactyly, Anteverted nares, Hypodontia, Microdontia, ... ORPHA:1515
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Micrognathia, Abnormal oral cavity morphology, Short philtrum, Cranios... ORPHA:1516
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Epicanthus, Genu valgum, Finger syndactyly, Camptodactyly of fin... ORPHA:3210
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Craniosynostosis, Telecanthus, Finger syndacty... ORPHA:380
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Eyelid coloboma, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed a... OMIM:248450
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Ptosis, ... ORPHA:245
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Downslanted palpebral fissures, Lower eyelid coloboma, Coloboma OMIM:248390
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Hallux valgus, 2-3 toe syndactyly, Smooth philtrum, Low hanging columella, Broad hal... OMIM:618659
Mental Retardation, X-Linked 91
High palate, Short nose, Epicanthus, Cubitus valgus, Short 5th finger, Small hand, Short foot, Cl... OMIM:300577
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the rectum, Rectal prolapse, Anal canal squamous cell carcinoma... ORPHA:424019
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Convex nasal ridge, Trigonocephaly, Wide nasal bridge, Premature poste... OMIM:314320
Brittle Cornea Syndrome 1
Decreased corneal thickness, Palmoplantar cutis laxa, Keratoglobus, Epicanthus, Congenital hip di... OMIM:229200
Peutz-Jeghers Syndrome
Abnormality of the ureter, Neoplasm of the lung, Rectal prolapse, Stomach cancer, Gastrointestina... ORPHA:2869
Fraser Syndrome 3
Micrognathia, Convex nasal ridge, Wide nose, Hypoplasia of the bladder, Short toe, Cryptophthalmo... OMIM:617667
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal palate morphology, Toe syndactyly, Cleft palate, Chorioretinal coloboma, Ul... ORPHA:921
Sweeney-Cox Syndrome
Underdeveloped nasal alae, Upper eyelid coloboma, Micrognathia, Cleft palate, High palate, Short ... OMIM:617746
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Rectal prolapse, Smooth philtrum, Oligodontia, Talipes equinovarus, ... OMIM:235510
Au-Kline Syndrome
Underdeveloped nasal alae, Cleft palate, High palate, Oligodontia, Ptosis, Postaxial polydactyly,... OMIM:616580
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Cutis laxa, Adducted thumb, Talipes equinovarus, Wormian bones, Osteopeni... OMIM:616603
Non-Distal Trisomy 10Q
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Brachycephaly, Abnormality... ORPHA:1695
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Prominent nasal bridge OMIM:608432
Microtriplication 11Q24.1
Metatarsus adductus, Cleft palate, Smooth philtrum, Short philtrum, Talipes equinovarus, Upslante... ORPHA:289522
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Dubowitz Syndrome
Hypospadias, Rectal prolapse, Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Tele... ORPHA:235
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter, Short nose, Epicanthus, Fr... ORPHA:1450
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Retinal coloboma, Brachycephaly, Long ph... OMIM:157980
15Q11Q13 Microduplication Syndrome
Epicanthus, Downslanted palpebral fissures, Finger syndactyly, Clinodactyly of the 5th finger, Jo... ORPHA:238446
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Duodenal stenosis, Annular pancreas, Anophtha... ORPHA:2470
Fraser Syndrome 2
Renal hypoplasia, Cutaneous syndactyly, Cryptophthalmos OMIM:617666
Chopra-Amiel-Gordon Syndrome
Cleft palate, Almond-shaped palpebral fissure, Smooth philtrum, Pierre-Robin sequence, Brachyceph... OMIM:619504
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Underdeveloped nasal alae, Upper eyelid coloboma, Micrognathia, Cleft palate, Wid... ORPHA:398156
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Large beaked nose, Metopic suture patent to nasal root, Trigonocephaly... ORPHA:3369
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Oligodontia, Brachycephaly, Sclerocornea, Abnormal eyelid morphology, Abno... ORPHA:2095
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Short nose, Frontal bossing, P... OMIM:600775
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia OMIM:615524
Craniofrontonasal Dysplasia
Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,... ORPHA:1520
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, High palate, Hypodontia, 2-3 toe syndactyly, Tapered finger, Upslanted palpebral fi... OMIM:617061
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... ORPHA:163649
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous plaque, Erythematous papule, Striae distensae, Parakeratosis, Palmoplantar erythema,... ORPHA:64745
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Micrognathia, High palate, Depressed nasal bridge, Toe syndactyly, Long ph... ORPHA:261120
Autosomal Recessive Omodysplasia
Micrognathia, Depressed nasal bridge, Abnormality of femur morphology, Long philtrum, Rhizomelia,... ORPHA:93329
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Orbital cyst OMIM:251505
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle ORPHA:2841
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Neurofaciodigitorenal Syndrome
Plagiocephaly, Triphalangeal thumb, Abnormality of the elbow, Ptosis, Mandibular prognathia, Brac... ORPHA:2673
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Broad nasal tip, High palate, Short philtrum, Talipes equinovarus, Brachyceph... ORPHA:3306
Pierpont Syndrome
Smooth philtrum, Long upper lip, Short nose, Telecanthus, Micropenis, Short toe, Prominent finger... OMIM:602342
Fraser Syndrome
Hypospadias, Midline nasal groove, Finger syndactyly, Calvarial skull defect, Underdeveloped nasa... ORPHA:2052
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Wide nose, Telecanthus, Sparse eyebrow, ... ORPHA:2399
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Brachycephaly, Upslanted palpebral fissure, Large hands, Craniosynos... OMIM:613174
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis ORPHA:71289
Barber-Say Syndrome
Wide mouth, Ectropion, Telecanthus, Wide nasal bridge, Delayed eruption of teeth, Bulbous nose, S... ORPHA:1231
Muenke Syndrome
Plagiocephaly, High palate, Short middle phalanx of finger, Short middle phalanx of toe, Capitate... OMIM:602849
3Q29 Microduplication Syndrome
Toe syndactyly, Cleft palate, High palate, Ectopic anus, Large fontanelles, Sclerocornea, Aniridi... ORPHA:251038
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Micrognathia, Deep palmar crease, Temporomandibular joint ankyl... ORPHA:2872
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the elbow, Epicanthus, Finger syndactyly, Thick eyebrow, Cl... ORPHA:3268
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Helsmoortel-Van Der Aa Syndrome
Widely spaced teeth, Thick lower lip vermilion, Narrow palpebral fissure, Broad nasal tip, Smooth... OMIM:615873
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Long eyelashes, Downslanted palpebral fis... ORPHA:2863
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Acrocephalopolydactyly
Depressed nasal ridge, Limb undergrowth, Short nose, Epicanthus, Oxycephaly, Genu recurvatum, Pre... ORPHA:221054
Branchio-Oculo-Facial Syndrome
Nasolacrimal duct obstruction, Iris coloboma, Coloboma, Tooth agenesis, High palate, Renal agenes... ORPHA:1297
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Short nose, Epicanthus, Thin upper lip vermilion, Anteverted nares ORPHA:2015
Lowry-Maclean Syndrome
Pyloric stenosis, Small anterior fontanelle, Hypospadias, Cleft palate, Single transverse palmar ... ORPHA:2409
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypospadias, Upper eyelid coloboma, Mandibular prognathia, Concave nasal ridge, Widely patent fon... OMIM:603463
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Short nose, Telecanthus, Cubitus valgus, Camptodactyly of finger, Short toe, Antev... ORPHA:1327
Robinow Syndrome, Autosomal Dominant 2
Midface retrusion, Short nose, Micropenis, Thin upper lip vermilion, Anteverted nares, Triangular... OMIM:616331
Momo Syndrome
Thick lower lip vermilion, Femoral bowing, High palate, Chorioretinal coloboma, Smooth philtrum, ... ORPHA:2563
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Short nose, Frontal bossing, Delayed cranial suture closure, Anteverted n... OMIM:613038
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Ptosis, Long philtrum... OMIM:249620
Simpson-Golabi-Behmel Syndrome, Type 2
Cleft palate, Talipes equinovarus, Short nose, Micropenis, Thin upper lip vermilion, Anteverted n... OMIM:300209
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Hyperphosphatasia With Mental Retardation Syndrome 1
Cleft palate, Short nose, Thin upper lip vermilion, Short toe, Plagiocephaly, Highly arched eyebr... OMIM:239300
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Pfeiffer Syndrome
Brachyturricephaly, Cloverleaf skull, Short nose, Finger syndactyly, Syndactyly, Broad hallux, Hy... OMIM:101600
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Depressed nasal ridge, Sparse eyelashes, Long philtrum, Submucous cleft ha... ORPHA:178303
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Toe syndactyly, Abnormality of bone mineral densit... ORPHA:1114
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Hypospadias, Horseshoe kidney, Smooth philtrum, Long nose, Velopharyngeal insuffic... ORPHA:363444
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Downslanted palpebral fissures, Lower eyelid coloboma, Choanal stenosis OMIM:618939
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Highly arched eyebrow, Underdeveloped nasal alae, Convex nasal ridge, Smooth ph... OMIM:618419
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Smooth philtrum, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Micrognat... OMIM:615761
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Telecanthus, Unilateral renal agenesis OMIM:206750
Mandibulofacial Dysostosis With Mental Retardation
Micrognathia, High palate, Wide mouth, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Broad palm, Depressed nasal bridge, Ptosis, Long philtrum, Upslanted palpe... OMIM:145420
Jacobsen Syndrome
Pyloric stenosis, Hypospadias, Short nose, Telecanthus, Iris coloboma, Nasolacrimal duct obstruct... OMIM:147791
Metaphyseal Acroscyphodysplasia
Genu varum, Telecanthus, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses... OMIM:250215
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Antley-Bixler Syndrome
Cleft palate, Short nose, Turricephaly, Camptodactyly of finger, Femoral bowing, Anteverted nares... ORPHA:83
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Long philtrum, Short nose, Long ey... OMIM:618577
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Trigonocephaly 1
Long penis, Preauricular skin tag, Trigonocephaly, Craniosynostosis, Synophrys OMIM:190440
Arthrogryposis, Distal, Type 5
Distal arthrogryposis, High palate, Decreased palmar creases, Congenital finger flexion contractu... OMIM:108145
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Iris coloboma, Deviation of finger, Non-midline cle... ORPHA:1104
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Bowing of the legs, Craniosynostosis, Frontal bossing, Skin dimple ... OMIM:241510
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Depressed nasal ridge, Cleft palate, Brachyturricephaly, Broad proximal phal... OMIM:607597
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism, Renal agenesis OMIM:219050
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip, Abnormal vertebral segmentation and fusion, Central posterior corn... OMIM:244600
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:154400
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Abnormal joint morphology, Wormian bones, Platybasia OMIM:166230
Chromosome 10Q26 Deletion Syndrome
Prominent nose, Micrognathia, Convex nasal ridge, Toe syndactyly, Long philtrum, Flared nostrils,... OMIM:609625
Proboscis Lateralis
Proboscis, Iris coloboma, Nasolacrimal duct obstruction, Unilateral renal agenesis, Eyelid colobo... ORPHA:141099
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Rhiny
Anteverted nares, Short nose OMIM:180360
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Bifid nose, Frontal bossing, Unilateral renal agenesis, Midline defect of th... OMIM:256690
Crouzon Disease
Convex nasal ridge, Midface retrusion, Ptosis, Brachycephaly, Iris coloboma, Frontal bossing, Nar... ORPHA:207
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft palate, Ptosis, Cleft upper lip, Hematuria, Cataract, Coloboma OMIM:120433
Mental Retardation, Autosomal Dominant 57
High palate, Broad nasal tip, Ptosis, Upslanted palpebral fissure, Craniosynostosis, Telecanthus,... OMIM:618050
Takenouchi-Kosaki Syndrome
Hypospadias, Smooth philtrum, Proximal placement of thumb, Bulbous nose, Thin upper lip vermilion... OMIM:616737
Carpenter Syndrome
Toe syndactyly, Polydactyly, Cloverleaf skull, Talipes equinovarus, Craniosynostosis, Oxycephaly,... ORPHA:65759
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... OMIM:614078
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Convex nasal ridge, Brachycephaly, Short nose, Craniosynostosis, Fing... ORPHA:2145
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
9q subtelomeric deletion syndrome
Anteverted nares, Midface retrusion, Short nose DECIPHER:52
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Smooth philtrum, Short nose, Joint contracture of the hand, Short palpebral fis... OMIM:608156
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Sparse eyelashes, Cleft palate, Dental crowding, Sparse and thin eyebrow, Wide nasa... OMIM:616367
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Polydactyly, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Lowry-Maclean Syndrome
Convex nasal ridge, Craniosynostosis OMIM:600252
Jacobsen Syndrome
Pyloric stenosis, Broad hallux phalanx, Smooth philtrum, Duodenal atresia, Short nose, Iris colob... ORPHA:2308
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Oculocerebrocutaneous Syndrome
Wide mouth, Ptosis, Congenital hip dislocation, Iris coloboma, Finger syndactyly, Corneal opacity... ORPHA:1647
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Coffin-Siris Syndrome 7
Depressed nasal bridge, Microdontia, Wide mouth, Short philtrum, Trigonocephaly, Downslanted palp... OMIM:618027
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Chromosome 8Q21.11 Deletion Syndrome
Micrognathia, Short philtrum, Ptosis, Epicanthus, Wide nasal bridge, Downslanted palpebral fissur... OMIM:614230
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Unilateral renal ... OMIM:101800
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Warburg Micro Syndrome 3
Developmental cataract, Micrognathia, Shallow anterior chamber, Brachycephaly, Short nose, Narrow... OMIM:614222
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal foot bone ossification, Ptosis, Abnormal hand bone ossificatio... OMIM:300244
Carpenter Syndrome 1
Genu varum, Hydroureter, Telecanthus, Joint contracture of the hand, Deviation of finger, Shallow... OMIM:201000
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Skin vesicle OMIM:613102
Macrocephaly-Developmental Delay Syndrome
Narrow palpebral fissure, High palate, Mandibular prognathia, Craniosynostosis, Downslanted palpe... ORPHA:397612
Gomez-Lopez-Hernandez Syndrome
High palate, Smooth philtrum, Midface retrusion, Brachycephaly, Short nose, Craniosynostosis, Dow... OMIM:601853
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Dermal atrophy, Papule, Aplasia/Hypoplasia of the skin, Skin vesicle ORPHA:257
Emanuel Syndrome
Cleft palate, Redundant neck skin, Broad jaw, Hooded eyelid, Delayed eruption of teeth, Low hangi... ORPHA:96170
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Ectropion, Cleft upper lip, Dow... OMIM:263750
Williams-Beuren Region Duplication Syndrome
Micrognathia, High palate, Broad nasal tip, Diastema, Short philtrum, Brachycephaly, Hydronephros... OMIM:609757
Frontoocular Syndrome
Micrognathia, High palate, Ptosis, Trigonocephaly, Upslanted palpebral fissure, Epicanthus, Promi... OMIM:605321
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Micrognathia, Highly arched eyebrow, Convex nasal ridge, Hypoplasia ... ORPHA:293967
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Treacher-Collins Syndrome
Cleft palate, Abnormality of bone mineral density, Abnormal dental enamel morphology, Iris colobo... ORPHA:861
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Small anterior fontanelle, Micrognathia, Dysphagia, Depressed nasal bridge, Short nose, Long eyel... OMIM:617802
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Omphalocele, Hydronephrosis, Abnormality of the ureter, Aplasia/Hypoplasia of the... ORPHA:1834
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Narrow mouth, Cataract, Retr... ORPHA:2528
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Atypical scarring of skin, Upper limb phocomelia, Syndactyly, Abnormal h... ORPHA:294975
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Abnorma... OMIM:601163
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Upper eyelid coloboma, Cleft palate, Sparse eyelashes, Brachycephaly, ... OMIM:613456
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Large fontanelles, Median cleft lip and palate, Gingival fib... ORPHA:1832
Chromosome 16P13.3 Duplication Syndrome
Ptosis, Tapered finger, Upslanted palpebral fissure, Long fingers, Short nose, Short toe, Proxima... OMIM:613458
17P13.3 Microduplication Syndrome
High palate, Wide nose, Short nose, Downslanted palpebral fissures, Congenital hip dislocation, F... ORPHA:217385
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Downslanted... ORPHA:1529
Spondyloepiphyseal Dysplasia, Nishimura Type
Midface retrusion, Osteoarthritis, Short nose, Delayed epiphyseal ossification OMIM:618618
Distal Monosomy 10Q
Cleft palate, Smooth philtrum, Short metatarsal, Short nose, Thin upper lip vermilion, Enuresis, ... ORPHA:96148
Postaxial Acrofacial Dysostosis
Micrognathia, Cleft palate, Downslanted palpebral fissures, Hypoplasia of the radius, Finger synd... ORPHA:246
Hartsfield Syndrome
Cleft palate, Depressed nasal bridge, Ptosis, Aplasia/Hypoplasia of the radius, Craniosynostosis,... ORPHA:2117
Adams-Oliver Syndrome 3
2-3 toe syndactyly, Short metatarsal, Aplasia cutis congenita, Short palpebral fissure, Short dis... OMIM:614814
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Short nose, Epicanthus, Retrognathia, Anteverted nares OMIM:614069
Branchioskeletogenital Syndrome
Carious teeth, Telecanthus, Upper limb peromelia, Micropenis, Amelia involving the lower limbs, H... ORPHA:1299
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Sagittal craniosynostosis OMIM:218450
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Talipes equinovarus, Joint contracture of the hand, Long hallux, Fem... OMIM:600920
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Distal Trisomy 18Q
Carious teeth, Micrognathia, High palate, Hypoplasia of penis, Large hands, Short nose, Prominent... ORPHA:1716
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Depressed nasal ridge, Broad hallux phalanx, Hypospadias, Abnormal penis morphology... ORPHA:2211
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
14Q24.1Q24.3 Microdeletion Syndrome
Smooth philtrum, Long philtrum, Joint laxity, Short nose, Ectopic kidney, Downslanted palpebral f... ORPHA:401935
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Narrow palpebral fissure, Micrognathia, High palate, Short nose, Epicanthus, Downslanted palpebra... OMIM:613604
Multiple Synostoses Syndrome 3
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Cutaneous syndactyly of toes, Broad... OMIM:612961
Buschke-Ollendorff Syndrome
Flat occiput, Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteo... ORPHA:1306
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Coffin-Lowry Syndrome
Rectal prolapse, Telecanthus, Anteverted nares, Thick nasal septum, Highly arched eyebrow, Hypodo... OMIM:303600
Toriello-Lacassie-Droste Syndrome
Limbal dermoid, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Abnormal penis mor... ORPHA:3339
Warburg-Cinotti Syndrome
Decreased corneal thickness, Narrow palpebral fissure, High palate, Underdeveloped nasal alae, Na... OMIM:618175
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Wide mouth, Ptosis, Trigonocephaly, Long philtrum, Telecanthus, Long palpe... OMIM:614583
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Depressed nasal bridge, Brachycephaly, Craniosynostosis, Downslant... ORPHA:314575
Curry-Jones Syndrome
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Intestinal malrotation, Syndactyly, C... OMIM:601707
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Parakeratosis, Skin vesicle ORPHA:158681
Serkal Syndrome
Hypospadias, Abnormal penis morphology, Sex reversal, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Rubinstein-Taybi Syndrome 2
Carious teeth, Prominent nose, Micrognathia, High palate, Convex nasal ridge, Long eyelashes, Dow... OMIM:613684
Distal Trisomy 5Q
Carious teeth, Hypospadias, Micrognathia, Chorioretinal coloboma, Long philtrum, Short nose, Epic... ORPHA:96097
Sclerosteosis
Diaphyseal thickening, Ptosis, Abnormal cortical bone morphology, Finger syndactyly, Curved dista... ORPHA:3152
Neu-Laxova Syndrome 1
Thick lower lip vermilion, Toe syndactyly, Micrognathia, Cleft palate, Micromelia, Renal agenesis... OMIM:256520
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad dista... OMIM:120400
Oculocerebrocutaneous Syndrome
Microphthalmia, Focal dermal aplasia/hypoplasia, Anophthalmia, Congenital hip dislocation, Eyelid... OMIM:164180
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Short palpebral fissure, Iris colobo... ORPHA:251014
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Chorioretinal coloboma, Wide mouth, Ptosis, Trigonocephaly, Long philtrum,... OMIM:243310
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Chromosome 3Pter-P25 Deletion Syndrome
Low hanging columella, Anteverted nares, Highly arched eyebrow, Micrognathia, High palate, Depres... OMIM:613792
Dermatitis, Atopic
Allergic rhinitis, Cataract, Facial erythema, Dry skin, Pallor, Keratoconus, Conjunctivitis OMIM:603165
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Narrow palpebral fissure, Cleft palate, Retinal coloboma, Long philtrum, Renal dysplasia, Short n... OMIM:618571
Edinburgh Malformation Syndrome
Micrognathia, Ulnar deviation of finger, Long fingers, Short nose, Brushfield spots, Thin vermili... ORPHA:1895
Ritscher-Schinzel Syndrome 1
Hypospadias, Micrognathia, Cleft palate, Depressed nasal bridge, Hydronephrosis, Brachycephaly, D... OMIM:220210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the pulmo... ORPHA:1166
Acrocraniofacial Dysostosis
Metatarsus adductus, Micrognathia, Cleft palate, Short philtrum, Ptosis, Wide nose, Craniosynosto... OMIM:201050
Perlman Syndrome
High, narrow palate, Micrognathia, Smooth philtrum, Ptosis, Short nose, Epicanthus, Wide nasal br... ORPHA:2849
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Frontal bossing, Thin calvarium, Delayed cranial suture closure, Midface retrusion ORPHA:1129
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intes... ORPHA:2140
Cenani-Lenz Syndrome
Short nose, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger syndactyly, Synos... ORPHA:3258
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Micrognathia, Rectal prolapse, Hydronephrosis, Cutis laxa, Long philtrum, Wide ... OMIM:613177
Bartsocas-Papas Syndrome 2
Bilateral cleft lip and palate, Popliteal pterygium, Micrognathia, Absent distal phalanges, Ankyl... OMIM:619339
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Broad nasal tip, Long philtrum, Broad thumb, Absent uvula, Short nose, Long eyelash... OMIM:618529
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Dysphagia, Depressed nasal bridge, Smooth philtrum, Ptosis, Short nose, Epicanthus,... OMIM:614744
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Ptosis, Narrow pelvis b... OMIM:616723
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Vertebral fusion, Long philtrum, Short nose, Renal cyst, Wide n... OMIM:615583
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma OMIM:616428
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Telecanthus, Iris coloboma, Heterochromia iridis, Palpebral edema, Delayed crani... ORPHA:2995
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Ptosis, Mandibular prognathia, Brachyceph... ORPHA:2511
Gapo Syndrome
Sparse eyelashes, Delayed eruption of teeth, Palpebral edema, Anteverted nares, Abnormality of pe... ORPHA:2067
Pyoderma Gangrenosum
Atrophic scars, Papule, Rheumatoid arthritis, Skin ulcer, Skin vesicle ORPHA:48104
Acrocallosal Syndrome
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Finger syndactyly, Micropenis, Coloboma, ... OMIM:200990
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Microphthalmia, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Crypt... OMIM:612530
Dermatitis Herpetiformis
Recurrent fractures, Erythema, Macule, Skin vesicle ORPHA:1656
Muenke Syndrome
Hypopigmented skin patches, Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephal... ORPHA:53271
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Highly arched eyebrow, Micrognathia, High palate, Depressed nasal bridge, Upslanted ... OMIM:614541
Hao-Fountain Syndrome
Trigonocephaly, Delayed cranial suture closure, Large fontanelles OMIM:616863
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Sparse eyelashes, Abnormal dental enamel morphology, Telecanthus, ... OMIM:257850
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Redundant neck skin, Talipes equinovarus, Telecanthus, Micropenis, Hypodontia, Metop... OMIM:301056
Osteoglophonic Dysplasia
Hypospadias, Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Short nose, Anteverted nares, S... OMIM:166250
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Midface retrusion, Microdontia, Open... ORPHA:1248
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Aganglionic megacolon, Renal dysplasia, Absent eyebrow, Absent eyelashes, Keratitis... OMIM:308205
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Pemphigus Foliaceus
Acantholysis, Erythematous plaque, Annular cutaneous lesion, Erythema, Skin erosion, Serpiginous ... ORPHA:79481
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Multiple small bowel atresias, Joint cont... OMIM:218649
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Hydronephrosis, Cleft palate, Broad nasal tip, Ptosis, Lacrimal duct stenosis, Cra... ORPHA:457193
Chung-Jansen Syndrome
Micrognathia, High palate, Short philtrum, Long philtrum, Tapered finger, Upslanted palpebral fis... OMIM:617991
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly, Brachydactyly OMIM:615983
Mesomelic Dysplasia, Nievergelt Type
Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger syndactyly, Camptod... ORPHA:2633
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos OMIM:611638
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Depressed nasal bridge, Wide mouth, Ptosis, Long philtrum, Abnormal localization of kidney, Epica... ORPHA:1825
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Unilateral renal agenesis, Elbow flexion contracture, ... OMIM:619194
Cdags Syndrome
Hypospadias, Cleft palate, Sparse eyelashes, Midface retrusion, Ectropion, Ptosis, Rectovaginal f... OMIM:603116
Pycnodysostosis
Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Hypodontia, Abn... OMIM:265800
Cree Mental Retardation Syndrome
Hypospadias, Cutaneous finger syndactyly, Micrognathia, Large fontanelles, Ptosis, Cleft soft pal... OMIM:606851
Curry-Jones Syndrome
Hypopigmented skin patches, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Finge... ORPHA:1553
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Aganglionic megacolon, Short philtrum, Ptosis, Short nose, Epicanthus, ... OMIM:613603
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Broad hallux phalanx, High palate, Open bite, Mandibular prognathia, Upslanted pa... ORPHA:168624
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Smooth philtrum, Depressed nasal bridge, Ptosis, Long philtrum, Juvenile c... ORPHA:438178
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Microdontia, Wide mouth, Cone-shaped epiphysis, Macroglossia, T... OMIM:266920
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Alagille Syndrome
Micrognathia, Abnormality of the ureter, Short philtrum, Long nose, Brachycephaly, Nephrotic synd... ORPHA:52
Trisomy 12P
Micrognathia, Cleft palate, Abnormality of the urinary system, Large hands, Short nose, Epicanthu... ORPHA:1699
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Treacher Collins Syndrome 2
Micrognathia, Cleft palate, Downslanted palpebral fissures, Choanal stenosis, Coloboma, Choanal a... OMIM:613717
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Sh... ORPHA:959
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Abnormality of the metaphysis, Reduced bone mineral density, B... ORPHA:2370
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Sparse eyelashes, Cleft palate, Ptosis, Epicanthus, Wide nasal bridge,... ORPHA:306542
Schisis Association
Omphalocele, Cleft palate, Renal agenesis, Congenital diaphragmatic hernia, Anal atresia, Tracheo... ORPHA:63862
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Depressed nasal bridge, Osteoporosis, Wormian bones, Midface retrusion, Gener... OMIM:613849
Distal 22Q11.2 Microduplication Syndrome
Smooth philtrum, Bulbous nose, Palpebral edema, Camptodactyly of finger, Unilateral renal agenesi... ORPHA:261337
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... ORPHA:363417
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, L... OMIM:311300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Abnormality of the knee, Pierre-Robin sequence, Talipes equinovarus, Short nose, Da... ORPHA:251028
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Widely spaced teeth, Micrognathia, Cleft palate, Depressed nasal bridge, Tubulointerstitial nephr... ORPHA:459061
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Short nose, Long eyelashes, Finger syndactyly, Thick eyebrow, Narrow... ORPHA:1514
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Abnormal cortical bone morphology, Unilateral renal agenesis, Thin u... ORPHA:2512
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism DECIPHER:39
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Osteopenia OMIM:125700
Lacrimoauriculodentodigital Syndrome
Carious teeth, Absent lacrimal punctum, Abnormal dental enamel morphology, Limbal stem cell defic... ORPHA:2363
Stevenson-Carey Syndrome
Underdeveloped nasal alae, Prominent nasal tip, Pierre-Robin sequence, Brachycephaly, Downslanted... OMIM:611961
Nail-Patella Syndrome
Cleft palate, Talipes equinovarus, Lester's sign, Elongated radius, Limited elbow extension, Bice... OMIM:161200
Tetrasomy 12P
Ptosis, Long philtrum, Upslanted palpebral fissure, Short nose, Telecanthus, Thick upper lip verm... ORPHA:884
Hypomandibular Faciocranial Dysostosis
Cleft palate, Maxillozygomatic hypoplasia, Brachycephaly, Trigonocephaly, Upslanted palpebral fis... ORPHA:1790
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Telecanthus, Short 1st metacarpal, Turricephaly, Anteverted na... ORPHA:949
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Developmental And Epileptic Encephalopathy 73
Midface retrusion, Short nose, Narrow nasal bridge, Flexion contracture OMIM:618379
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, Single transverse palmar crease, Broad toe, Finger syndactyly, Cho... ORPHA:93932
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft palate, Thin eyebrow, Pierre-Robin sequence, Oligodontia, Long upper lip, Short nose, Telec... ORPHA:364577
3Mc Syndrome 2
Hypospadias, Cleft palate, Limited elbow movement, Radioulnar synostosis, Highly arched eyebrow, ... OMIM:265050
Hyperphosphatasia With Mental Retardation Syndrome 2
Plagiocephaly, Cleft palate, Aganglionic megacolon, Broad nasal tip, Left unicoronal synostosis, ... OMIM:614749
Marshall Syndrome
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Short nose, Irregular d... OMIM:154780
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Depressed nasal bridge, Wide mouth, Talipes equinovarus, Brachycephaly, Macrogloss... OMIM:616789
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia, Abnormal localization of kidney, Downslanted palpebral fissures, ... ORPHA:195
Denys-Drash Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, True hermaphroditism, Nephrotic syndr... OMIM:194080
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Smooth philtrum, Proximal placement of thumb, Bulbous nose, Thin upper lip vermilion... ORPHA:487796
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyelashes, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Sparse an... OMIM:225280
Pde4D Haploinsufficiency Syndrome
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... ORPHA:439822
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Bardet-Biedl Syndrome 11
Polydactyly, Retinopathy OMIM:615988
Whistling Face Syndrome, Recessive Form
Talipes equinovarus, Microglossia, Telecanthus, Whistling appearance, Short palpebral fissure, Ca... OMIM:277720
Monosomy 5P
High palate, Abnormality of bone mineral density, Epicanthus, Downslanted palpebral fissures, Wid... ORPHA:281
Gapo Syndrome
Thick lower lip vermilion, High, narrow palate, Micrognathia, Sparse eyelashes, Depressed nasal b... OMIM:230740
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Cranioectodermal Dysplasia 3
Widely spaced teeth, Micrognathia, Dry skin, Cutis laxa, Postaxial polydactyly, Nephronophthisis,... OMIM:614099
Proteus Syndrome
Limbal dermoid, Mandibular hyperostosis, Depressed nasal bridge, Thin bony cortex, Ptosis, Downsl... OMIM:176920
Non-Syndromic Posterior Hypospadias
Omphalocele, Ventral shortening of foreskin, Cleft palate, Congenital diaphragmatic hernia, Esoph... ORPHA:95706
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Long philtrum, Dacryocystitis, Gingival overgrowth, Thin... ORPHA:464288
Ganglioneuroma
Colorectal polyposis, Abnormality of the orbital region, Functional intestinal obstruction, Gastr... ORPHA:251992
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Short nose, Proximal placement ... OMIM:609945
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Abnormal morphology of female internal genitalia, Congenital d... ORPHA:2141
Bardet-Biedl Syndrome 6
Retinal dystrophy, Syndactyly, Polydactyly, Rod-cone dystrophy OMIM:605231
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Cutaneous finger syndactyly, Hypospadias, Sparse eyelashes, Short nose, Short palp... OMIM:613026
Cornelia De Lange Syndrome 2
Smooth philtrum, Proximal placement of thumb, Thin upper lip vermilion, Anteverted nares, Limited... OMIM:300590
Wells Syndrome
Skin vesicle ORPHA:901
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Bulbous nose, Syndactyly, Camptodactyly, Arthrogryposis-like hand anomaly, Plagioceph... ORPHA:369891
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly OMIM:613885
Hamamy Syndrome
Smooth philtrum, Syndactyly, Anteverted nares, Micrognathia, High palate, Hypodontia, Long philtr... OMIM:611174
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Frontometaphyseal Dysplasia
Cleft palate, Oligodontia, Short metatarsal, Joint contracture of the hand, Progressive bowing of... ORPHA:1826
Cebalid Syndrome
Plagiocephaly, Depressed nasal ridge, Depressed nasal bridge, Brachycephaly, Platystencephaly, Sh... OMIM:618774
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Hydronephrosis, Trigonocephaly, Craniosynostosis, Arthrogryposis multiplex congeni... OMIM:618265
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Craniosynostosis OMIM:225755
Non-Distal Trisomy 13Q
Micrognathia, High palate, Long philtrum, Trigonocephaly, Short nose, Thin vermilion border, Arac... ORPHA:1702
Oculomaxillofacial Dysostosis
Underdeveloped nasal alae, Micrognathia, Cleft palate, Abnormality of the humerus, Adducted thumb... ORPHA:1794
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Coxa valga, Short distal phalanx of finger, Lambdoidal craniosynostosis OMIM:601370
15Q24 Microdeletion Syndrome
Hypospadias, Smooth philtrum, Proximal placement of thumb, Coloboma, Intestinal atresia, Depresse... ORPHA:94065
Aarskog-Scott Syndrome
Cleft palate, Delayed eruption of teeth, Genu recurvatum, Finger syndactyly, Megalocornea, Campto... ORPHA:915
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Bilateral ptosis, Short nose, Syndactyly, Thin... OMIM:614701
Apert Syndrome
Pyloric stenosis, Brachyturricephaly, Cutaneous finger syndactyly, Cleft palate, Delayed eruption... OMIM:101200
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, S... OMIM:251450
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Dry skin, Esophageal varix, Postaxial polydactyly, Proximal ... OMIM:614576
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Hypoplasia of the bladder, Unilateral renal agenesis, Sparse and thin eye... OMIM:614527
Acrodysostosis
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Delayed eruption of ... ORPHA:950
Fetal Trimethadione Syndrome
Hypospadias, Micrognathia, High palate, Depressed nasal bridge, Ptosis, Brachycephaly, Short nose... ORPHA:1913
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
7Q11.23 Microduplication Syndrome
Hypospadias, Cubitus valgus, Thin upper lip vermilion, Unilateral renal agenesis, Enuresis, Micro... ORPHA:96121
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Chorioretinal coloboma, Short distal phalanx of finger, Camptodactyly of finger, ... ORPHA:1471
Codas Syndrome
Depressed nasal bridge, Ptosis, Abnormality of epiphysis morphology, Short nose, Epicanthus, Abno... ORPHA:1458
Foxg1 Syndrome Due To 14Q12 Microdeletion
Smooth philtrum, Depressed nasal bridge, Excessive salivation, Mandibular prognathia, Macroglossi... ORPHA:261144
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Mental Retardation With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Drooling, Downslanted palpebral fissures, Open mouth, Retrognathia, ... OMIM:613670
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Micrognathia, Broad nasal tip, Short philtrum, Brachycephaly, Epicanth... ORPHA:52022
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Diastema, Ptosis OMIM:300915
Burn-Mckeown Syndrome
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge ORPHA:1200
Mycophenolate Mofetil Embryopathy
Micrognathia, Chorioretinal coloboma, Bifid nose, Iris coloboma, Foot polydactyly, Tracheoesophag... ORPHA:268249
C Syndrome
Short nose, Fused sternal ossification centers, Accessory oral frenulum, Anteverted nares, Toe sy... OMIM:211750
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Rectal prolapse, Anal fissure, Hematochezia ORPHA:209964
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Frontonasal Dysplasia 2
Depressed nasal ridge, Depressed nasal bridge, Craniosynostosis, Wide nasal bridge, Parietal fora... OMIM:613451
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure OMIM:616602
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft palate, Renal agenesis, Azoospermia, Bicornuate uterus, Unilateral renal agenesis, Ectopic ... OMIM:601076
Crouzon Syndrome
Conjunctivitis, Lambdoidal craniosynostosis, Brachycephaly, Mandibular prognathia, Keratitis, Fro... OMIM:123500
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Bronchiolitis, Hypogona... OMIM:615993
Roberts-Sc Phocomelia Syndrome
Hypospadias, Cleft palate, Phocomelia, Syndactyly, Coloboma, Opacification of the corneal stroma,... OMIM:268300
3C Syndrome
Hypospadias, Cleft palate, Short nose, Iris coloboma, Finger syndactyly, Hand polydactyly, Microg... ORPHA:7
Mental Retardation Syndrome, Belgian Type
Mandibular prognathia, Coloboma, Wide nose, Cleft ala nasi OMIM:249599
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Depressed nasal bridge, Long philtrum, Short nose, Epicanthus, Downslanted palpebral... OMIM:614105
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Macroglossia, Craniosynostosis, Joint contracture of the hand, Clubbing, Keratitis, Hip dislocati... OMIM:618523
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Bicoronal synostosis, La... OMIM:618736
Musculocontractural Ehlers-Danlos Syndrome
Cleft palate, Short nose, Slender finger, Recurrent joint dislocation, Cleft lip, Thin upper lip ... ORPHA:2953
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Depressed nasal bridge, Adenomatous colonic polyposis, Midc... ORPHA:79076
Otodental Dysplasia
Ankylosis, Hypodontia, Pulp calcification, Long philtrum, Anteverted nares, Taurodontia, Coloboma OMIM:166750
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Depressed nasal ridge, Short nose ORPHA:1355
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Broad thumb, Craniosynostosis, Oxycephaly, Preaxia... OMIM:101120
Smith-Magenis Syndrome
Cleft palate, Short nose, Abnormal localization of kidney, Hand polydactyly, Anteverted nares, To... ORPHA:819
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Broad thumb, Joint... OMIM:113000
Microphthalmia, Isolated 3
Anophthalmia, Ankyloblepharon, Microphthalmia OMIM:611038
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Axenfeld-Rieger Syndrome
Hypospadias, Hypodontia, Depressed nasal bridge, Midface retrusion, Posterior embryotoxon, Microd... ORPHA:782
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Short nose, Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limit... ORPHA:457395
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microgloss... OMIM:270400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly, Ocular anterior... OMIM:610023
Mental Retardation, Autosomal Recessive 65
Hypospadias, Ptosis, Thin vermilion border, Prominent nasal bridge, Downslanted palpebral fissure... OMIM:618109
Coach Syndrome 1
Wide mouth, Esophageal varix, Ptosis, Nephronophthisis, Multiple small medullary renal cysts, Ren... OMIM:216360
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Smooth philtrum, Duodenal atresia, Camptodactyly of finger, Unilateral renal agenesi... ORPHA:468631
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Saethre-Chotzen Syndrome
Hallux valgus, Buphthalmos, Cleft palate, Oxycephaly, Syndactyly, Delayed cranial suture closure,... OMIM:101400
Vacterl/Vater Association
Hypospadias, Omphalocele, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal agenesis, Cleft ... ORPHA:887
Cornelia De Lange Syndrome 5
Cleft palate, Telecanthus, Proximal placement of thumb, Micropenis, Limited elbow extension, Ante... OMIM:300882
Bardet-Biedl Syndrome 12
Polydactyly, Rod-cone dystrophy OMIM:615989
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Bilateral ptosis, Cholelithiasis, Camptodactyly of finger, Jaundice OMIM:214980
Cranioectodermal Dysplasia 4
Cutaneous finger syndactyly, Cutis laxa, Broad distal phalanx of finger, Stage 5 chronic kidney d... OMIM:614378
Clark-Baraitser Syndrome
Narrow palpebral fissure, High palate, Depressed nasal bridge, Wide mouth, Long philtrum, Upslant... OMIM:617752
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Bifid clitoris, Unilateral renal agenesis, Bladder exstrophy, Anteriorly placed... OMIM:600057
Femoral-Facial Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Long philtrum, Long penis, Upslanted palpebral f... ORPHA:1988
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Underdeveloped nasal alae, Micrognathia, Sparse eyelashes, Metaphyseal dysplasia, Horseshoe kidne... OMIM:250410
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Renal malrotation, Anophthalmia, Congenital d... OMIM:601186
Coffin-Siris Syndrome 6
Plagiocephaly, High, narrow palate, Narrow palpebral fissure, Micrognathia, Cleft palate, Depress... OMIM:617808
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Microgastria, Aganglionic megacolon, Asplenia, Abnormal... OMIM:156810
Toluene Embryopathy
Micrognathia, Smooth philtrum, Hydronephrosis, Tapered finger, Short nose, Epicanthus, Hypoplasia... ORPHA:1920
15q26 overgrowth syndrome
Bulbous nose, Camptodactyly of finger, Prominent nose, Micrognathia, High palate, Renal agenesis,... DECIPHER:81
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lacrimal duct aplasia, Split han... DECIPHER:46
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Talipes equinovarus, Slender finger, Micropenis, Thin upper lip vermilion, Anteverte... OMIM:309580
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Short lingual frenulum, Short philtrum, Brachycephaly, Rectovaginal fistula, Bifi... OMIM:608980
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Broad nasal tip, Depressed nasal bridge, Cone-shaped epiphysis, Dermatochalasis, Lacrimal duct st... ORPHA:221139
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Hypospadias, Cleft palate, Abnormal dental enamel morphology, Aplasti... ORPHA:85199
Gómez-López-Hernández Syndrome
Brachycephaly, Telecanthus, Thin vermilion border, Corneal opacity, Turricephaly, Anteverted nare... ORPHA:1532
Aymé-Gripp Syndrome
Cleft palate, Oligodontia, Bilateral ptosis, Short nose, Megalocornea, Thin upper lip vermilion, ... ORPHA:1272
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, A... ORPHA:166119
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Polydactyly, Ptosis, Gastrointestinal dysmotility, Wide nasal ridge, Craniosynost... ORPHA:531151
Braddock Syndrome
Micrognathia, Epicanthus, Unilateral renal agenesis, Preaxial hand polydactyly, Blepharophimosis ORPHA:52047
Lathosterolosis
Short nose, Bulbous nose, Anteverted nares, Opacification of the corneal stroma, Toe syndactyly, ... ORPHA:46059
Macrocephaly/Autism Syndrome
Frontal bossing, Biparietal narrowing, Short nose, Depressed nasal bridge OMIM:605309
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Baller-Gerold Syndrome
Brachyturricephaly, Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radi... ORPHA:1225
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Convex nasal ridge, Cleft palate, Talipes equinovarus, Wid... OMIM:251230
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Micrognathia, Steep acetabular roof, Short clavicles, Bowing of... ORPHA:313855
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Abnormal lung lobation, Congenital diaphragmatic hernia, Telecanthus, Epicanthus, Po... OMIM:263210
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Finger syndactyly, Delayed cranial suture closu... ORPHA:794
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Wide nose, Short nose, Epicanthus, Rhizomelia, Genu... ORPHA:2831
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Pfeiffer Syndrome Type 1
Short hallux, Broad hallux phalanx, Toe syndactyly, Brachycephaly, Aplasia/Hypoplasia of the thum... ORPHA:93258
Hennekam-Beemer Syndrome
Macule, Upslanted palpebral fissure, Erythema, Papule, Camptodactyly of finger, Delayed cranial s... ORPHA:2135
15Q Overgrowth Syndrome
Smooth philtrum, Telecanthus, Turricephaly, Microretrognathia, Nephroblastoma, Abnormality of the... ORPHA:314585
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Osteomyelitis, Osteopenia, Papule, Recurrent fractures, Skin ulcer, Joint hyper... ORPHA:2314
Nanophthalmos 4
Microphthalmia OMIM:615972
Tonne-Kalscheuer Syndrome
Hypospadias, Dysphagia, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Downslante... OMIM:300978
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Nabais Sa-De Vries Syndrome, Type 1