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 predicted to be associated to Frem1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly, Craniosynostosis ORPHA:1527
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Trigonocephaly 2
Trigonocephaly, Depressed nasal bridge, Wide nasal bridge, Metopic synostosis OMIM:614485
Aurocephalosyndactyly
Short columella, Craniosynostosis OMIM:109050
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Cryptophthalmos, Ankyloblepharon OMIM:123570
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Craniosynostosis 3
Hallux valgus, Ptosis, Single transverse palmar crease, Sagittal craniosynostosis, Left unicorona... OMIM:615314
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... ORPHA:2717
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Corneal opacity, Median cleft lip, Aplasia/Hypoplasia of the d... ORPHA:1234
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... OMIM:167730
Frontofacionasal Dysplasia
Depressed nasal ridge, Brachycephaly, Microcornea, Limbal dermoid, Iris coloboma, Depressed nasal... ORPHA:1791
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri... OMIM:619736
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly, Short nose ORPHA:46
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Col... OMIM:615877
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Acrofrontofacionasal Dysostosis
Ptosis, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfi... ORPHA:1784
Potocki-Shaffer Syndrome
Turricephaly, 2-5 finger cutaneous syndactyly, Epicanthus, Single transverse palmar crease, Telec... OMIM:601224
Bartsocas-Papas Syndrome 1
Ectopic kidney, Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Flexion contr... OMIM:263650
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo... OMIM:248450
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pala... OMIM:615524
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Highly arched eyebrow, Broad nasal tip... OMIM:619451
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Hypospadias, Broad hall... OMIM:175700
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Unilate... ORPHA:1064
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Chorioretinal ... OMIM:218650
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Palmoplantar keratoderma, Skin vesicl... ORPHA:218
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ablepharon, Camptodactyly of finger, Redunda... ORPHA:920
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Unilateral renal agenesis, Micrognathia, Prominent nasal ... OMIM:608572
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydacty... ORPHA:2935
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Epicanthus, Wide nose, Camptodactyly of finger, Crani... ORPHA:3210
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion OMIM:612247
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly OMIM:263450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Bowing of the long b... ORPHA:171839
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Abnormality of th... ORPHA:79145
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Craniosyno... ORPHA:380
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Conjunctivitis, Blepharitis ORPHA:254478
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Wahab Syndrome
Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin... OMIM:615170
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Trigonocephaly 1
Epicanthus, Craniosynostosis, High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Upsl... OMIM:190440
17Q21.31 Microduplication Syndrome
Epicanthus, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Synophrys, High palate, C... ORPHA:217340
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Delayed Membranous Cranial Ossification
Frontal bossing, Depressed nasal ridge, Prominent occiput, Decreased skull ossification, Midface ... ORPHA:3034
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Cataract, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid... OMIM:136760
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Wide nasal bridge, Premature posterior fontanelle closure, Small anter... OMIM:314320
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Malformed lacrimal duct, Cutaneous finger syndac... OMIM:219000
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly, ... OMIM:300577
Brittle Cornea Syndrome 1
Joint laxity, Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ... OMIM:229200
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Eyelid coloboma, Downslanted... OMIM:268850
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Unilateral renal agenesis, ... OMIM:618142
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Lowe... OMIM:616462
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Premature posterior fontanelle closure, Multiple suture craniosynostosis, Meto... ORPHA:3369
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding,... ORPHA:424019
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Anteverted nares, Unilateral r... OMIM:616362
Frontofacionasal Dysplasia
Telecanthus, Cataract, Underdeveloped nasal alae, Cleft upper lip, Short nose, Brachycephaly, Ank... OMIM:229400
Cranioectodermal Dysplasia
Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Epicanthus, Craniosynostosis, Abno... ORPHA:1515
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Joint stiffne... ORPHA:245
Craniofrontonasal Dysplasia
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Hypospadias, Camptodactyly of finger, C... ORPHA:1520
Ring Chromosome 8 Syndrome
Frontal bossing, Epicanthus, Anteverted nares, Abnormality of the ureter, Deviation of finger, Sh... ORPHA:1450
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Epicanthus, Joint hyperflexibility, Clinodactyly of the 5th finger, Downslante... ORPHA:238446
2Q24 Microdeletion Syndrome
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta... ORPHA:64745
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Skin vesicle... ORPHA:79410
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Micrognathia, Brachycephaly, Joint hyperflexibility, Abn... ORPHA:1695
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Wide nose, Convex nasal ridge, Micrognathia, Shor... OMIM:617667
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly OMIM:607539
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hy... ORPHA:2470
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Orbital cyst OMIM:251505
Abruzzo-Erickson Syndrome
Epicanthus, Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of... ORPHA:921
Microtriplication 11Q24.1
Joint dislocation, Keratoconus, Wide nose, Metatarsus adductus, Synophrys, Limitation of joint mo... ORPHA:289522
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... ORPHA:1104
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the hallux, Single transverse palmar creas... OMIM:609432
Neu-Laxova Syndrome 2
Finger syndactyly, Ablepharon, Toe syndactyly, Cataract, Rocker bottom foot, Micrognathia, Depres... OMIM:616038
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Epicanthus, Single transverse palmar crease, Craniosynostosis, Ble... OMIM:613174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Epicanthus, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Wide nasa... ORPHA:1516
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Coloboma, Vesicoureteral reflux, Hypospadias, Broad hallux, Tapered finger, Short t... OMIM:618659
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Rectal prolapse, Short metatarsal, Brachycephaly, High palate, Gastroesophag... OMIM:617157
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Metopic synostosis, Trigonocephaly, Short nose OMIM:300581
Acrocephalopolydactyly
Epicanthus, Genu recurvatum, Oxycephaly, Abnormal renal morphology, Depressed nasal ridge, Short ... ORPHA:221054
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi... OMIM:619951
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly OMIM:614416
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinod... ORPHA:3268
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Epicanthus, Unilateral renal agenesis, Broad nasal tip, Synophrys, Brachycephaly... ORPHA:3306
Lowry-Maclean Syndrome
Convex nasal ridge, Craniosynostosis OMIM:600252
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Unilateral renal agenesis, Almond-shaped palpebral fissure, Flared nost... OMIM:619504
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Brachycephaly, Upper eyelid ... ORPHA:2095
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Redundant skin, Ablepharo... OMIM:200110
Autosomal Recessive Omodysplasia
Frontal bossing, Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosi... ORPHA:93329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Cutaneous finger syndactyly, Protein-losing ent... OMIM:235510
Muenke Syndrome
Ptosis, Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, C... OMIM:602849
Terminal Osseous Dysplasia
Multiple joint contractures, Abnormal hand bone ossification, Camptodactyly of toe, Iris coloboma... OMIM:300244
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Oligosacchariduria, High palate, Abnormal bone ossification, Abnorma... ORPHA:163649
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull as... OMIM:601853
Carpenter Syndrome
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... ORPHA:65759
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Horseshoe kidney, Increase... OMIM:613630
Hypophosphatasia, Childhood
Frontal bossing, Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Phosphoethan... OMIM:241510
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Cleft up... OMIM:244600
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Congenital localized absence of skin, Skin ulcer, Abnormality ... ORPHA:1114
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Telecanthus, Unilateral renal agenesis OMIM:206750
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper ... OMIM:607597
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro... ORPHA:2409
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Wide nasal... OMIM:618577
Sweeney-Cox Syndrome
Flat occiput, Micrognathia, Brachycephaly, High palate, Gastroesophageal reflux, 2-5 toe syndacty... OMIM:617746
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Rhiny
Short nose, Anteverted nares OMIM:180360
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... ORPHA:2872
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Redundant skin, Bulbous nos... ORPHA:1231
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening ... OMIM:101600
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Hartsfield Syndrome
Telecanthus, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft p... ORPHA:2117
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Sclerocornea, Large fontanelles, Camptoda... ORPHA:251038
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Cataract, Renal agenesis, Upper lip pit, Broad nasal tip, Preaxial ... ORPHA:1297
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f... OMIM:225280
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Highly arched eyebrow,... OMIM:239300
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha... OMIM:604757
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Bilateral ptosis, Plagiocephaly, Pansyn... OMIM:180750
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... OMIM:615990
Pierpont Syndrome
Telecanthus, Wide nose, Blepharophimosis, Broad nasal tip, Short toe, Unilateral narrow palpebral... OMIM:602342
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Skin vesicle, Sparse eyelashes, Follicular hyperkeratosis OMIM:613102
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arc... ORPHA:178303
Treacher Collins Syndrome 4
Micrognathia, Lower eyelid coloboma, Cleft palate, Choanal stenosis, Downslanted palpebral fissures OMIM:618939
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th... ORPHA:2673
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... OMIM:616602
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Micrognathia, Bifid nasal tip, Upper eyelid coloboma, Cleft... ORPHA:398156
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Br... ORPHA:207
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Pyloric sten... ORPHA:314575
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Abnormality of the upper urinary tract, Craniosynostosis, Abnorm... ORPHA:2145
Arthrogryposis, Distal, Type 5
Keratoconus, Epicanthus, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Bleph... OMIM:108145
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule, Ptosis ORPHA:257
14Q11.2 Microdeletion Syndrome
Epicanthus, Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, High pal... ORPHA:261120
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre... ORPHA:83
Dermatitis, Atopic
Keratoconus, Cataract, Allergic rhinitis, Facial erythema, Conjunctivitis, Pallor, Dry skin OMIM:603165
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... OMIM:201000
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Anteverted nares, Aganglionic me... ORPHA:3339
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick upper lip vermilion, Thick lower li... ORPHA:2563
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Fraser Syndrome
Hypoplasia of penis, Cleft ala nasi, Urethral atresia, Malformed lacrimal duct, High palate, Cryp... ORPHA:2052
Macrocephaly-Developmental Delay Syndrome
Mandibular prognathia, Frontal bossing, Microretrognathia, Palpebral edema, Craniosynostosis, Sca... ORPHA:397612
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Jacobsen Syndrome
Ptosis, Epicanthus, Flat occiput, Hypospadias, Telecanthus, Anteverted nares, Micrognathia, Abnor... OMIM:147791
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Broad hallux, Overlapping toe, Highly arched eyebrow, Micrognathia, Hypoplasia of the tooth germ,... ORPHA:293967
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Thickened calvaria, Single transv... OMIM:303600
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Dermal translucency, Corneal opacity, Unilateral renal agenesis, Hip di... OMIM:616603
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Synophrys, Brachycephaly, Microcornea, High palate, Scapular winging, Ante... ORPHA:1327
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Frontal bossing, Osteoporosis, Joint hyperflexibility ORPHA:2787
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Epicanthus, Hypospadias, Abnormality of the kidney, Unilatera... ORPHA:363444
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Atypical scarring of skin, Stillbirth, Polydactyly, Abnormal h... ORPHA:294975
Gapo Syndrome
Redundant skin, Micrognathia, High, narrow palate, Eruption failure, Megalocornea, Tubulointersti... OMIM:230740
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen... ORPHA:1834
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis OMIM:219050
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis ORPHA:158681
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Long ... OMIM:613680
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Epicanthus, Overhanging nasal tip, Overlapping toe, Unilateral renal ag... OMIM:618494
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Jacobsen Syndrome
Microcornea, Eyelid coloboma, Long hallux, Iris coloboma, Broad columella, Abnormality of the anu... ORPHA:2308
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Flat occiput, Hypospadias, Ep... ORPHA:2211
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Pr... ORPHA:401935
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func... ORPHA:96148
Craniosynostosis 4
Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... OMIM:600775
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Anisocoria, Clinodactyly of the 5th finger, Iris coloboma, Bifid uvula, Fi... OMIM:181270
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Focal dermal aplasia/hypoplasia, Orbital cyst, Eyelid c... OMIM:164180
Oculodentodigital Dysplasia, Autosomal Recessive
Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, Persistent pupill... OMIM:257850
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cranioectodermal Dysplasia 4
Frontal bossing, Epicanthus, Anteverted nares, Sagittal craniosynostosis, Stage 5 chronic kidney ... OMIM:614378
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ... OMIM:120400
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana... OMIM:263750
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Wide nose, Corneal opacity, Cataract, Abnormal eyelash morpholog... ORPHA:2399
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Thin calvarium, Short nose, Midface retrusion, Delayed cranial suture closure ORPHA:1129
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Upper eyelid coloboma, Brachycephaly... OMIM:613456
Pemphigus Foliaceus
Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi... ORPHA:79481
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Eyelid coloboma, Abnormali... ORPHA:141099
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital dia... ORPHA:139466
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ptosis, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the... ORPHA:1647
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Wide anterior fontanel, Small han... OMIM:619339
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the... OMIM:616367
17P13.3 Microduplication Syndrome
Frontal bossing, Hypoplasia of penis, Congenital hip dislocation, Wide nose, High palate, Clinoda... ORPHA:217385
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Craniosynostosis, Abnormality ... ORPHA:1553
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnor... OMIM:601163
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple... ORPHA:1166
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dyspla... ORPHA:2370
Hao-Fountain Syndrome
Trigonocephaly, Large fontanelles, Delayed cranial suture closure OMIM:616863
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Delayed epiphyseal ossification, Osteoarthritis, Midface retrusion OMIM:618618
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Ptosis, ... OMIM:616723
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Ptosis, Brachydactyly, Flat occiput, Narrow nasal bridge, Abnormal thumb m... ORPHA:2511
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema, Recurrent fractures ORPHA:1656
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Ankle flexion contracture, Underdeveloped nasal alae, Erythema, Elbow f... OMIM:618175
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Micrognathia, Broad nasal tip, Brachycephaly, Long eyelashes, Horizont... OMIM:609757
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Brachydactyly, Epicanthus, Lacrimal duct stenosis, P... ORPHA:457193
Frontoocular Syndrome
Epicanthus, Prominent nasal bridge, Blepharophimosis, Micrognathia, Upslanted palpebral fissure, ... OMIM:605321
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... OMIM:101200
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Pterygium, Finger synd... OMIM:256520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Vesicoureteral reflux, Micropenis, Hypospadias, Postaxial foot polydactyly, ... OMIM:301056
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Rheumatoid arthritis, Skin vesicle, Papule ORPHA:48104
Muenke Syndrome
Tarsal synostosis, Hypermelanotic macule, Brachycephaly, Hypopigmented skin patches, Plagiocephal... ORPHA:53271
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... OMIM:614749
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly OMIM:615983
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Hooded eyelid, Redundant neck skin, Micr... ORPHA:96170
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Juvenile cataract, Depressed nasal bridge, Highly arched eyebrow, Short... ORPHA:438178
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac... OMIM:161200
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to... OMIM:609625
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, T... ORPHA:969
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Synophrys, Hypospadias, Highly arched eyebrow, Tapered finger, Spars... OMIM:616737
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Prominent metopic ridge, Epicanthus, Hypospadias, Single transverse palmar creas... OMIM:614541
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Epicanthus, Thin upper lip vermilion, Anteverted nares, Single transverse palmar... OMIM:613604
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Baraitser-Winter Cerebrofrontofacial Syndrome
Micrognathia, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Promin... ORPHA:2995
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Renal hypoplasia/aplasia, Micrognathia, Wide ... ORPHA:2863
Distal Duplication 5Q
Hypoplasia of the ulna, Epicanthus, Hypospadias, Prominent nasal bridge, Craniosynostosis, Absent... ORPHA:96097
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Fo... OMIM:154400
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Synophrys, Coloboma, Short palm, Clinodactyly of the 5th... ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Hypospadias, Postaxial polydactyly, Micrognathia, Anteverte... OMIM:615761
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Brach... OMIM:617752
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Large fontanelles, Depressed nasal ridge, Short nose, Delayed cranial suture cl... ORPHA:1832
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Midface retrusion DECIPHER:52
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Epicanthus, Proteinuria, Sparse eyelashes, Sagittal craniosynostosis, Micrognathia, ... OMIM:616901
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Vesicoureteral ... ORPHA:2512
Acro-Renal-Ocular Syndrome
Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, Iris c... ORPHA:959
Emanuel Syndrome
Broad jaw, Recurrent urinary tract infections, Congenital hip dislocation, Intestinal malrotation... OMIM:609029
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Car... ORPHA:1716
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... OMIM:614814
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Epicanthus, True hermaphroditis... OMIM:194080
Teebi Hypertelorism Syndrome 1
Frontal bossing, Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge,... OMIM:145420
Cdags Syndrome
Frontal bossing, Ectropion, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Parietal fo... OMIM:603116
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow pal... OMIM:600920
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Synophrys, Brachycephaly, High palate, Gastroesophageal reflux, Promi... OMIM:613792
Mesomelic Dysplasia, Nievergelt Type
Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality... ORPHA:2633
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Epicanthus, Unilateral renal agenesis, Highly arched ... OMIM:617190
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Foot oligodactyly, Synostosis of carpal bones, Hypoplasia of the... ORPHA:3258
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Renal agenesis, Anteverted nares, Broad... OMIM:615583
Hamamy Syndrome
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... OMIM:611174
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Epicanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of th... ORPHA:1825
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Thick verm... OMIM:618506
Gapo Syndrome
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Keratoconus, Sparse eyelashes,... ORPHA:2067
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Telecanthus, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Po... OMIM:614099
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormality of the orbital region... ORPHA:251992
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Dry skin, Aplasia cutis congenita of ... OMIM:600906
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Micropenis, Anteverted n... OMIM:608156
Acrocraniofacial Dysostosis
Micrognathia, Triphalangeal thumb, Advanced eruption of teeth, Anteverted nares, Tapered finger, ... ORPHA:949
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, Eyelid... ORPHA:861
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Branchioskeletogenital Syndrome
Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Brachycephaly,... ORPHA:1299
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Frontal bossing, Rhizomelia, Depressed nasal bridge, Unilateral renal agenesis, Chronic kidney di... OMIM:617661
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Short nose, Depressed nasal bridge, Craniosynostosis OMIM:614732
3Mc Syndrome 2
Limited elbow movement, High palate, Caudal appendage, Prominence of the premaxilla, Hypospadias,... OMIM:265050
Alagille Syndrome
Keratoconus, Frontal bossing, Hypoplasia of the ulna, Corneal dystrophy, Renal hypoplasia/aplasia... ORPHA:52
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Epicanthus, Depressed nasal bridge, Abnormality of the kidney, Sagittal craniosynostosis, Microgn... ORPHA:459061
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital d... ORPHA:2141
15Q24 Microdeletion Syndrome
Joint laxity, Epicanthus, Hypospadias, Depressed nasal bridge, Proximal placement of thumb, Promi... ORPHA:94065
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, D... OMIM:243310
Rubinstein-Taybi Syndrome 2
Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi... OMIM:613684
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Synophrys, Brac... OMIM:213980
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga OMIM:601370
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Knee flexion contracture, Hypoplasia of the iris, Thin lower lip vermilion, Wide nasal bridge, Re... OMIM:619194
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Depressed nasal bridge, Micrognathia, Brachycephaly, Cleft palate, Promi... OMIM:220210
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Ectropion of lower eyelids, Enuresis nocturna, Posterior plagiocephaly, Eyel... OMIM:615873
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, T... OMIM:614583
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Brachycephaly, Upslanted palpebral fissure, Microcornea, High palate, Retro... ORPHA:2528
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, ... ORPHA:1895
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Monosomy 5P
Microretrognathia, Finger syndactyly, Epicanthus, Recurrent fractures, Small hand, Wide nasal bri... ORPHA:281
Chung-Jansen Syndrome
Epicanthus, Thick eyebrow, Anteverted nares, Tapered finger, Micrognathia, Synophrys, Upslanted p... OMIM:617991
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Epicanthus, Prominent nasal bridge, Craniosynostosis, Micrognathia, Synophrys, U... OMIM:619873
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Non-Syndromic Posterior Hypospadias
Omphalocele, Bifid scrotum, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Cryp... ORPHA:95706
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal ala... ORPHA:306542
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of t... OMIM:618419
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Coloboma, Up... OMIM:616789
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Gastrointestinal dysmotility, Abnormal tongue morphology, Hip... ORPHA:531151
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Brachy... ORPHA:1790
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio... OMIM:601707
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Telecanthus, Arachnodactyly, ... OMIM:615539
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Brachycephaly, Long eyelashes, Short nose, ... ORPHA:1514
Proteus Syndrome
Depressed nasal bridge, Limbal dermoid, Mandibular hyperostosis, Dolichocephaly, Calvarial hypero... OMIM:176920
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Sparse eyelashes, Cranio... OMIM:250410
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Sandal gap, Single transverse palmar crease, Redundant skin, Micrognath... OMIM:613177
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Ker... OMIM:123500
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphragmatic hernia, Un... ORPHA:2260
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depress... ORPHA:93258
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo... OMIM:610023
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... OMIM:618736
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Microphthalmia, Syndromic 9
Renal malrotation, Inguinal hernia, Anophthalmia, Pulmonary artery atresia, Congenital diaphragma... OMIM:601186
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Dacryocystitis, Depressed nasal ridge, Renal hypoplasi... ORPHA:464288
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Cataract, Flexion contracture, Hip dysplasia, Short nose, Midface retrusion OMIM:618379
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic... OMIM:614170
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Polydactyly OMIM:615991
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Schisis Association
Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft pa... ORPHA:63862
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Concave nasal ridge, Dolichocephaly, Wormian bones, Pathologic frac... ORPHA:166277
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Toe syndactyly, Upslanted palpebral fissure, Dolichocephaly, Trigonocephaly... ORPHA:168624
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Depressed nasal ridge, Brachycephaly, Broad columella,... OMIM:613451
Tatton-Brown-Rahman Syndrome
Epicanthus, Everted upper lip vermilion, Anteverted nares, Sagittal craniosynostosis, Blepharophi... OMIM:615879
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Frontal bossing, Recurrent urinary tract infections, Lacrimal duct stenosis, Palpebra... ORPHA:221139
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyl... DECIPHER:46
Iga Pemphigus
Acantholysis, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque ORPHA:555905
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Brachycephaly, C... OMIM:611961
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr... OMIM:175200
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Downslanted palpebral ... ORPHA:195
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morpho... ORPHA:1794
Fg Syndrome Type 1
Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint laxity, High pal... ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iil
Epicanthus, Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Dry skin, Hip dys... OMIM:614576
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Gómez-López-Hernández Syndrome
Turricephaly, Telecanthus, Anteverted nares, Corneal opacity, Brachycephaly, Thin vermilion borde... ORPHA:1532
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Sagitt... OMIM:618027
Coach Syndrome 1
Anteverted nares, Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial hand... OMIM:216360
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Flexion contracture, Abnor... OMIM:263210
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Craniosynostosis, Keratitis, Scaphocephaly, Hip dislocation, Clubbing, Macroglossia,... OMIM:618523
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Microc... ORPHA:819
Trisomy 12P
Turricephaly, Epicanthus, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of th... ORPHA:1699
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Arterial Tortuosity Syndrome
Redundant skin, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Keratoconus, ... ORPHA:3342
Hennekam-Beemer Syndrome
Macule, Camptodactyly of finger, Subcutaneous nodule, Erythema, Upslanted palpebral fissure, Skin... ORPHA:2135
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, Eyelid coloboma... OMIM:268300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Epicanthus, Cataract, Broad hallux, Sing... OMIM:614105
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Epicanthus, Cataract, Overlapping toe, Bulbous nose, Wide nas... OMIM:618571
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Skin ulcer, Joint hyperflexibil... ORPHA:2314
Codas Syndrome
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Hydroureter, Epi... ORPHA:1458
Isolated Growth Hormone Deficiency, Type Ia
Persistent open anterior fontanelle, Depressed nasal ridge OMIM:262400
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Polydactyly OMIM:615987
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus... OMIM:601076
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, S... OMIM:618828
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Hyperparathyroidism, Transient Neonatal
Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Anteverted nares, Recurrent fract... OMIM:618188
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla... OMIM:618774
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Epicanthus, Prom... OMIM:619880
Wells Syndrome
Skin vesicle ORPHA:901
Au-Kline Syndrome
High palate, Gastroesophageal reflux, Shallow orbits, Clinodactyly of the 5th finger, Vesicourete... OMIM:616580
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Micrognathia, Tracheoesophageal fistula, Eyelid coloboma, Foot polydactyly, Chori... ORPHA:268249
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Epicanthus, Flat occiput, Overlapping toe, Telecanthus, Thick eyebrow, Antev... OMIM:619383
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Increased bone mineral density, Cataract, Micrognathia, Microcornea, Coloboma, I... OMIM:617306
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... OMIM:178110
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Epicanthus, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Upslanted ... ORPHA:2163
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Wide nose, Depres... ORPHA:2831
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... OMIM:600057
Aymé-Gripp Syndrome
Brachycephaly, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ri... ORPHA:1272
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Abnormality of the elb... ORPHA:2019
Vacterl/Vater Association
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... ORPHA:887
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Epicanthus, Wide nose, Anteverted nares, Everted upper lip vermilion, Craniosynostosis, Downslant... OMIM:619056
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Vesicoureteral reflux, Cleft palate, Plagiocephaly, Slender long ... OMIM:618265
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Large fontanelles, Skin dimple, ... ORPHA:436
Restrictive Dermopathy 2
Microretrognathia, Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clav... OMIM:619793
Musculocontractural Ehlers-Danlos Syndrome
Decreased palmar creases, Redundant skin, Generalized joint laxity, Functional abnormality of the... ORPHA:2953
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig... ORPHA:2363
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge OMIM:155050
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Frontal bossing, Depressed nasal bridge, High, narrow palate, Rectal... ORPHA:79076
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Single transverse palmar crease, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureter... OMIM:300707
Retinitis Pigmentosa
Keratoconus, Hypoplasia of penis, Cataract, Anteverted nares, Wide nasal bridge ORPHA:791
Cornelia De Lange Syndrome 2
Ptosis, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of... OMIM:300590
Perlman Syndrome
Hypoplasia of penis, Epicanthus, Bilateral single transverse palmar creases, Anteverted nares, Mi... ORPHA:2849
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Bifid nasal tip,... OMIM:616854
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly ORPHA:2432
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... OMIM:101400
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Bicornuate ute... ORPHA:2143
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal brid... OMIM:614744
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Ovotesti... OMIM:611812
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Astigmatism, Joint hypermobility, Craniosynostosis OMIM:616721
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Hypospadias, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Micrognathia, C... OMIM:613026
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Synophrys, Brachycephaly, Coxa vara, Gastroesophageal reflux, Cl... OMIM:614701
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Epicanthus, Depressed nasal bridge, Wide nasal bridge, Microcor... OMIM:600268
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Biparietal narrowing, Ca... ORPHA:261337
Braddock Syndrome
Epicanthus, Unilateral renal agenesis, Micrognathia, Preaxial hand polydactyly, Blepharophimosis ORPHA:52047
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Telecanthus, Ectop... ORPHA:140952
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Short nose, Retrognathia, Downslanted palpebral fissures OMIM:613670
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Costello Syndrome
Keratoconus, Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Redundant ski... ORPHA:3071
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a... OMIM:618845
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... ORPHA:95699
3Mc Syndrome 1
Conjunctival telangiectasia, Synophrys, Coronal craniosynostosis, Clinodactyly of the 5th finger,... OMIM:257920
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Epicanthus, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteo... ORPHA:88630
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Knee flex... ORPHA:468631
White-Kernohan Syndrome
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha... OMIM:619426
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Microphthalmia, Congenital diaphragmatic hernia OMIM:300887
Cree Mental Retardation Syndrome
Hypospadias, Rocker bottom foot, Cleft soft palate, Micrognathia, Large fontanelles, Brachycephal... OMIM:606851
Laurence-Moon Syndrome
Finger syndactyly, Renal insufficiency, Hypoplasia of penis, Brachydactyly, Epicanthus, Cataract,... ORPHA:2377
Fetal Trimethadione Syndrome
Ptosis, Epicanthus, Hypospadias, Depressed nasal bridge, Micrognathia, Synophrys, Brachycephaly, ... ORPHA:1913
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:614500
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Elbo... ORPHA:2557
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Epicanthus, Hypospadias, Sandal gap, Cr... ORPHA:254346
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Microretrognathia, Recurrent fra... OMIM:616294
Tetrasomy 12P
Delayed eruption of teeth, Frontal bossing, Telecanthus, Thin upper lip vermilion, Anteverted nar... ORPHA:884
15q26 overgrowth syndrome
Mandibular prognathia, Micrognathia, Prominent nose, Abnormal finger morphology, High palate, Ves... DECIPHER:81
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Flexion contracture, Brachycephaly, Microp... OMIM:616897
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Short palm, Clinodac... ORPHA:915
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Pulmo... OMIM:300978
Craniofrontonasal Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Joint laxity, Hypospadias, Broad hallux, Cleft upp... OMIM:304110
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Abnormality of the hand, B... ORPHA:369891
20P13 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Tented upper lip vermilion, Thin upper lip vermilion, Prominent n... ORPHA:313781
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Hypospad... ORPHA:487796
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Clinodactyly of the 5th finger, Bi... ORPHA:794
Harel-Yoon Syndrome
Mandibular prognathia, Frontal bossing, Corneal opacity, Micrognathia, Developmental cataract, Up... OMIM:617183
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Wide nose, Recurrent fractures, Craniosynostosis, Joint hypermobility OMIM:147060
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Cerebrooculonasal Syndrome
Frontal bossing, Epicanthus, Sparse eyelashes, Anteverted nares, Proboscis, Craniosynostosis, Pos... OMIM:605627
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Micrognathia, Brachycephaly, High palate, Hypospadias, Abnormal ... ORPHA:96121
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Frontal bossing, Short metacarpal, Absent eyebrow, Craniosynostosis, Micrognathia,... ORPHA:166035
Coffin-Siris Syndrome 6
Frontal bossing, Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow ... OMIM:617808
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k... OMIM:614527
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...