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Gene: Adamts2 MGI:1347356

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms:
a disintegrin and metalloproteinase with thrombospondin repeats,  procollagen N-proteinase,  hPCPNI,  ADAM-TS2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Adamts2 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 Adamts2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dermatosparaxis Ehlers-Danlos Syndrome
Depressed nasal bridge, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microgna... ORPHA:1901
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Short toe, Gingival overgrowt... OMIM:225410

The table below shows human diseases predicted to be associated to Adamts2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Fine hair, Hypodontia, Sparse hair, Microdontia, Triangular face ORPHA:1174
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Distal Duplication 18Q
Hypoplasia of penis, Round face, Anteverted nares, Prominent nasal bridge, Choanal atresia, Arach... ORPHA:1716
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Retractile testis, Short philtr... OMIM:615071
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face ORPHA:293707
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Nicolaides-Baraitser Syndrome
High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Thick nasal alae, Alope... ORPHA:3051
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Round face, Hypopigmentation of hair, Anteverted nares, Hypospadias, Depressed nasal ridge, Narro... ORPHA:1355
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Kbg Syndrome
Thin upper lip vermilion, Round face, Anteverted nares, Prominent nasal bridge, Macrodontia, Unde... ORPHA:2332
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Promi... OMIM:617364
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Depres... ORPHA:1810
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Low posterior hairline, Short foot, Abnormal facial shape, Short 5th fin... OMIM:300577
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Congenital hip dislocation, Sparse hair, Clinodactyly of the 5th finger, Broad col... ORPHA:217346
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Short middle phalanx of finger, Mic... OMIM:612626
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, Synophr... ORPHA:217340
48,Xxyy Syndrome
Hypoplasia of penis, Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Long fa... ORPHA:10
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Abnormality of the dentition, Short thumb, Oligodontia, Triphalangeal thumb, Small, conical teeth... ORPHA:79499
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Acrogeria
Aplasia/Hypoplasia of the skin, Micrognathia, Small hand, Skin ulcer, Fine hair, Short foot, Thin... ORPHA:2500
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... ORPHA:60033
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Arachnodactyly, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Wi... ORPHA:75496
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbin... ORPHA:79127
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre... OMIM:604571
Arthrogryposis, Distal, Type 2B2
Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narrow mouth, Short toe, Adducted ... OMIM:618435
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Skin dimple, Thin vermilion ... ORPHA:261304
Hypophosphatasia
Bowing of the long bones, Abnormality of the dentition, Emphysema, Abnormal rib morphology, Respi... ORPHA:436
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,... OMIM:129400
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Intellectual Developmental Disorder With Neuropsychiatric Features
Depressed nasal bridge, Highly arched eyebrow, Thin vermilion border, Triangular face, Smooth phi... OMIM:617532
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Preauricular pit, Depressed na... OMIM:613792
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Narrow nasal tip, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse h... ORPHA:2985
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Camptodactyly of finger, Tap... OMIM:612350
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly ORPHA:1962
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Bulbous nose, Low anterior hairline, Spotty hypopigmentation, Depressed nasal t... ORPHA:79133
Silver-Russell Syndrome 2
Micrognathia, 2-3 toe syndactyly, Downturned corners of mouth, Thin skin, Clinodactyly of the 5th... OMIM:618905
Dermoodontodysplasia
Hypodontia, Thin skin, Trichodysplasia OMIM:125640
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn... OMIM:225060
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Prominent nose, Synophrys, Short philtrum, Pulmonary artery atresia, Long philtrum, Long toe, Dep... OMIM:618316
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatarsus addu... OMIM:601680
Dermoodontodysplasia
Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Trichodys... ORPHA:1660
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri... ORPHA:96263
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Prolidase Deficiency
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Arachnodactyly, Depressed nasal... ORPHA:742
Mulibrey Nanism
Wide nose, Triangular face, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Enam... OMIM:253250
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Thin upper lip vermilion, Fine hair, Downturned corners of mouth, Short... ORPHA:231137
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth, Abnormal hair morphology OMIM:190320
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Abnormalit... ORPHA:1515
Glass Syndrome
Apnea, Anterior tibial bowing, Dental crowding, Micrognathia, Long nose, Conical tooth, Oligodont... OMIM:612313
Arthrochalasia Ehlers-Danlos Syndrome
Depressed nasal bridge, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microgna... ORPHA:1899
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri... ORPHA:96264
Congenital Myopathy 19
Micrognathia, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Depressed nasal r... OMIM:618578
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Anteverted nares, Highly arched eyebrow, Micrognathia, Persistence of primary te... OMIM:618342
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Prominent nose, Micrognathia, Narrow mouth, Wide nasal bridge,... OMIM:201170
Three M Syndrome 1
Mandibular prognathia, Neonatal respiratory distress, Triangular face, Depressed nasal bridge, An... OMIM:273750
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Nevus flammeus, Abnormal external genitalia, Dental crowding, Polydactyly, High palate, Clinodact... ORPHA:231140
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Short nose, Tri... OMIM:615419
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Low anterior hairline, Downturned corners of mouth, High palate, Widely sp... ORPHA:369891
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Round face, Anteverted nares, Narrow mouth, Bulbou... ORPHA:969
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
External genital hypoplasia, Cleft palate, Clinodactyly of the 5th finger, Triangular face, Facia... ORPHA:231147
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Micrognat... ORPHA:261120
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Emery-Nelson Syndrome
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... ORPHA:1927
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
3-Hydroxyisobutyric Aciduria
Long philtrum, Hypogonadotropic hypogonadism, Triangular face, Micrognathia ORPHA:939
Birt-Hogg-Dubé Syndrome
Skin tags, Pneumothorax, Pulmonary sequestration, Emphysema, Papule ORPHA:122
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Medial flaring of the eyebrow, Hypospadias, Arachnodactyly, Sandal gap, Repeated... OMIM:617602
Spermatogenic Failure 17
Male infertility OMIM:617214
Melanocytic Nevus Syndrome, Congenital
Congenital giant melanocytic nevus, Round face, Anteverted nares, Prominence of the premaxilla, N... OMIM:137550
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Narrow mouth, Camptodactyly, Overlapping fingers, Triangular face, Adducted thumb OMIM:618436
3M Syndrome
Congenital hip dislocation, Hypoplastic ischia, Clinodactyly of the 5th finger, Hypoplasia of the... ORPHA:2616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Long face, Brittle hair, Hypospadias, Prominent nasal bridge, Dental crowding, ... OMIM:619184
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long fingers, Tr... OMIM:619489
Chung-Jansen Syndrome
Round face, Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Synophrys, Hip dyspla... OMIM:617991
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo... OMIM:612387
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi... ORPHA:1832
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Mesomelia-Synostoses Syndrome
Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodac... ORPHA:2496
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Asthma, Cleft... ORPHA:397590
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Super... ORPHA:1812
Recon Progeroid Syndrome
Round face, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Proximal plac... OMIM:620370
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ... ORPHA:77258
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Ohdo Syndrome, X-Linked
Small scrotum, Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Micro... OMIM:300895
Stuve-Wiedemann Syndrome 1
Apnea, Micrognathia, Femoral bowing, Tibial bowing, Smooth tongue, Sparse hair, Short tibia, Shor... OMIM:601559
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing... OMIM:224690
X-Linked Mandibulofacial Dysostosis
Prominent nasal bridge, Micrognathia, Cryptorchidism, High palate, Hypoplasia of the zygomatic bo... ORPHA:1131
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Thick lower lip vermil... OMIM:613804
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Abnormal facial shape, Triangular face ORPHA:2867
Fetal Encasement Syndrome
Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Thin skin OMIM:613630
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Intellectual Developmental Disorder, Autosomal Recessive 45
Round face, Coarse facial features, Anteverted nares, Highly arched eyebrow, Bulbous nose, Synoph... OMIM:615979
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... ORPHA:544254
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Round face, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Evert... OMIM:616789
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... ORPHA:561
Nance-Horan Syndrome
Narrow face, Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supe... OMIM:302350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Three M Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Dental malocclusion, Thin ri... OMIM:612921
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Narrow face, Depressed nasal bridge, Camptodactyly of fing... ORPHA:1529
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Abnormal facial shape, Long philtrum, Short nose, Smo... ORPHA:46
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Coarse facial features, Depressed nasal bridge, Anteverted nares, T... ORPHA:363659
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Prominent nasal bridge, ... ORPHA:978
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Underdeveloped nasal alae, Micrognathia, Dental ma... OMIM:269880
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Triangular face, Prominent nasal bridge, Facial asymmetry, Carious teeth, ... ORPHA:1110
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Small hand, Melanocytic nevus, Clinodactyly of the 5th fin... OMIM:616489
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Thick hair, Synophrys, L... ORPHA:2429
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Prominent nose, Short metatarsal, Clitoral hypoplasia, Sparse hair, Long f... OMIM:614813
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Sp... OMIM:601812
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Anteverted nares, Abnormal dental morphology, Slow-growing hai... ORPHA:238468
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Round face, Depressed nasal bridge, Hypospadias, Antever... OMIM:614613
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Silver-Russell Syndrome 1
Syndactyly, Hypospadias, Micrognathia, Craniofacial disproportion, Short distal phalanx of the 5t... OMIM:180860
Al Kaissi Syndrome
Thin upper lip vermilion, Sacral dimple, Depressed nasal bridge, Macrodontia, Broad nasal tip, Hi... OMIM:617694
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of... OMIM:305100
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Congenital hip dislocation, Prominent nose, Micrognathia, 2-3 toe cutaneous syndac... OMIM:609625
Kbg Syndrome
Tented upper lip vermilion, Epispadias, Synophrys, Low anterior hairline, Widely-spaced maxillary... OMIM:148050
Mandibuloacral Dysplasia
Facial shape deformation, Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hy... ORPHA:2457
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Synophrys, Dental crowding, Triangular face, Hirsutism OMIM:619264
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl... ORPHA:950
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa... OMIM:616835
Rhizomelic Dysplasia, Patterson-Lowry Type
Large face, Short humerus, Short metacarpal, Wide nose, Mandibular prognathia, Depressed nasal ri... ORPHA:2831
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Long face, Smooth philtrum, Medial flaring of the eyebrow, Triangular face, Broad eyebrow, Proxim... OMIM:620113
Perlman Syndrome
Hypoplasia of penis, Round face, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow pal... ORPHA:2849
Mulchandani-Bhoj-Conlin Syndrome
Hypermelanotic macule, 2-3 toe syndactyly, Retrognathia, Clinodactyly, Cafe-au-lait spot, Triangu... OMIM:617352
Familial Partial Lipodystrophy, Dunnigan Type
Round face, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Secondary amenorrhea, Polycystic ovarie... ORPHA:2348
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Filippi Syndrome
Underdeveloped nasal alae, 2-4 toe syndactyly, Cryptorchidism, Wide nasal bridge, Hypertrichosis,... OMIM:272440
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Short femoral neck, Thin ski... ORPHA:157965
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... OMIM:606851
Cutis Laxa-Marfanoid Syndrome
Emphysema, Arachnodactyly, Hip dislocation ORPHA:171719
Ring Chromosome 8 Syndrome
Anteverted nares, Low posterior hairline, Deviation of finger, Short nose, Abnormal palate morpho... ORPHA:1450
Focal Dermal Hypoplasia
Subcutaneous nodule, Macule, Finger syndactyly, Alopecia, Aplasia/Hypoplasia of the skin, Abnorma... ORPHA:2092
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Microdontia, Emphysema, Synostosis ... ORPHA:289
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Long upper lip, Cryptorchidism, Short toe, High ante... OMIM:602342
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Narrow face, Synophrys, Downturned corners of mouth, High palate, Long fac... ORPHA:1327
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, High palate, Everted lower lip vermilion, S... ORPHA:1695
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Abnormal eyebrow morphology, Round face, Abnormality of nail color, Campt... ORPHA:3220
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Legius Syndrome
Micrognathia, High, narrow palate, Low posterior hairline, High palate, Cafe-au-lait spot, Triang... OMIM:611431
Ruijs-Aalfs Syndrome
Down-sloping shoulders, Prominent nasal bridge, Micrognathia, Bulbous nose, Premature graying of ... OMIM:616200
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Smith-Magenis Syndrome
Large face, Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Tent... ORPHA:819
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Micrognathia,... ORPHA:90154
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Tibial bowing, Thi... OMIM:166210
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Grant Syndrome
Large face, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal r... ORPHA:2097
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Insulin-Like Growth Factor I, Resistance To
Micrognathia, Synophrys, High palate, Abnormal facial shape, Long philtrum, Highly arched eyebrow... OMIM:270450
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno... OMIM:607823
Kaufman Oculocerebrofacial Syndrome
Narrow face, Congenital hip dislocation, Micrognathia, High palate, Sparse hair, Clinodactyly of ... OMIM:244450
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Micrognathia, Deep philtrum, Coarse hair, High palate, Clinodactyly of the 5th finger, ... ORPHA:1974
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Short nose, Flat face, Hypoplas... OMIM:616910
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Anteverted nares, Carious teeth, Cryptorchidism, Deep philtrum, Thick lower li... ORPHA:2701
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spondylodysplastic Ehlers-Danlos Syndrome
Numerous nevi, Abnormality of the temporomandibular joint, Hemifacial hypoplasia, Micrognathia, M... ORPHA:536471
Nabais Sa-De Vries Syndrome, Type 2
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Tapered finger,... OMIM:618829
Cutis Laxa, Autosomal Recessive, Type Iiib
Narrow nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Hip dislocation, Fine hair, Thin v... OMIM:614438
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Cleft lip, Flared nostrils, Pierre-Robin sequence, Cleft palate, Short ... OMIM:619504
Meier-Gorlin Syndrome 3
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Micropeni... OMIM:613803
Xq12-Q13.3 Duplication Syndrome
Numerous nevi, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infectio... ORPHA:314389
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Depressed nasal bridge, Tapered finger, Protruding tongue, Synophrys, Wido... OMIM:617804
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Thin vermilion border, Long ... OMIM:616420
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wide nasal bridge, Downturned corners of mouth, Slender lo... ORPHA:2774
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High... ORPHA:2751
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Hypospad... OMIM:619736
Nizon-Isidor Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hypos... OMIM:618872
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Thin upper lip vermilion, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hyp... ORPHA:1295
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Cryptorc... ORPHA:93328
Global Developmental Delay With Speech And Behavioral Abnormalities
Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism,... OMIM:619243
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Abnormal facial shape, L... ORPHA:438178
Partington Syndrome
Macroorchidism, Triangular face ORPHA:94083
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Nicolaides-Baraitser Syndrome
Dry hair, Short lingual frenulum, High, narrow palate, Short metatarsal, Low anterior hairline, P... OMIM:601358
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Prominent nasal bridge, High palate, Hypoplasia of the zygomatic bone, Increased ... ORPHA:319171
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Tapered fing... OMIM:616801
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Coarse facial features, Anteverted nares, Micrognathia, Precocious puberty, Narrow mouth, Open mo... OMIM:619356
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Downtu... OMIM:601224
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
17P11.2 Microduplication Syndrome
Abnormal dental morphology, Micrognathia, Open bite, Wide mouth, Triangular face ORPHA:1713
Teebi Hypertelorism Syndrome 1
Preauricular pit, Hypopigmented macule, Thin upper lip vermilion, Natal tooth, Depressed nasal br... OMIM:145420
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Pulmonary embolism ORPHA:743
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat... OMIM:610883
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Thick hair, Broad nasal tip, Carious teeth, Emphyse... ORPHA:357074
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Cleft upper lip, High anterior hairline, Cutaneous syndactyly, Hy... OMIM:119580
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Gingival fibromato... ORPHA:2028
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology, Facial asymmetry ORPHA:1214
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Narrow nasal ridge, Cryptorchidism, Hip dislocation, Thin skin, Narro... OMIM:219150
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Thin vermilion border, Abnor... ORPHA:2370
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th fi... OMIM:619293
Adult Syndrome
Premature loss of permanent teeth, Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, S... OMIM:103285
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Thin upper lip vermilion, Triangular face, Arachnodactyly, Prominent nasal bridg... ORPHA:371364
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Decreased na... OMIM:620197
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal b... OMIM:614078
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... OMIM:227330
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Thick eyebrow, Depressed nasal bridge, Exaggerated cupid's bow, Supernumerary nipple, Sparse eyeb... OMIM:620098
Silver-Russell Syndrome 4
Triangular face OMIM:618907
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism ORPHA:745
Oculodentodigital Dysplasia
Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia... OMIM:164200
16Q24.3 Microdeletion Syndrome
Anteverted nares, Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Cryptorchidis... ORPHA:261250
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Bilateral crypt... OMIM:613544
Partington Syndrome
Triangular face, Camptodactyly OMIM:309510
Silver-Russell Syndrome
Abnormality of male external genitalia, Triangular face, Hypospadias, Sandal gap, Shoulder dimple... ORPHA:813
Atkin-Flaitz Syndrome
Coarse facial features, Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted ... ORPHA:1193
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Ohdo Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebrow, Cryptorchi... OMIM:249620
Taurodontism
Taurodontia OMIM:272700
Cranioectodermal Dysplasia 4
Anteverted nares, Recurrent pneumonia, Decreased nasal nitric oxide, Hip dysplasia, Cutaneous fin... OMIM:614378
Hereditary Acrokeratotic Poikiloderma
Gingivitis, Dystrophic fingernails, Papule, Finger syndactyly, Open bite, Abnormal rib morphology... ORPHA:2907
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, B... ORPHA:2710
Silver-Russell Syndrome 5
Triangular face OMIM:618908
Acrofacial Dysostosis, Catania Type
Preauricular pit, Finger syndactyly, Microretrognathia, Hypospadias, Abnormal hair pattern, Abnor... ORPHA:1786
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Triangular face, Abnormal pelvic girdle bone morphology,... OMIM:610967
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th... OMIM:613026
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large face, Depressed nasal bridge, Anteverted nares, Apnea, Triangular face OMIM:614883
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Synophrys, Respiratory insufficien... ORPHA:1895
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Long face, Thin upper lip vermilion, Anteverted nares, Micrognathia, Open mouth, Bulbous nose, Pi... OMIM:613604
Alazami Syndrome
Wide nose, Sparse eyebrow, Wide mouth, Slender long bone, Widely spaced teeth, Short philtrum, Th... ORPHA:319671
Rubinstein-Taybi Syndrome 2
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi... OMIM:613684
Schimke Immunoosseous Dysplasia
Macule, Depressed nasal bridge, Hypermelanotic macule, Bilateral cryptorchidism, Dyspnea, Bulbous... OMIM:242900
Three M Syndrome 3
Anteverted nares, Prominent calcaneus, Slender long bone, Hip dysplasia, Thick vermilion border, ... OMIM:614205
Acromesomelic Dysplasia 4
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis... OMIM:619636
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyl... ORPHA:536467
Odontochondrodysplasia
Respiratory distress, Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge... ORPHA:166272
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsal osteolysis... OMIM:166300
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Crypto... ORPHA:2962
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thum... ORPHA:2719
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Clinodactyly, Wide nasal bridge, Long eyelashes, ... OMIM:618577
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eye... ORPHA:1514
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Cleft palate, Aplasia/Hypop... ORPHA:2145
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Cryptorchidism, Short thumb, Syn... ORPHA:401935
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, Emphysema OMIM:620365
Cerebellofaciodental Syndrome
Tapered finger, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Shortening of all distal pha... OMIM:616202
20Q13.33 Microdeletion Syndrome
Hallux valgus, Smooth philtrum, Sacral dimple, Triangular face, Hypospadias, Decreased scrotal ru... ORPHA:261311
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Coxa valga, Short toe,... ORPHA:1240
Noonan Syndrome 14
Curly hair, Coarse facial features, Prominent nasal bridge, Sparse eyebrow, Cryptorchidism, High,... OMIM:619745
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Wide nose, Small scrotum, Hypospadias, Short femur, Sandal g... OMIM:607143
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Coarse facial features, Prominent nose, Wide nasal bridge, Symphalangism affecting the phalanges ... ORPHA:1292
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Hypoplasia of penis, High palate, Narrow mouth, Clinodacty... ORPHA:217385
Sotos Syndrome
Mandibular prognathia, Narrow face, Triangular face, Depressed nasal bridge, Anteverted nares, Br... OMIM:117550
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythematous plaque, Thin skin, Dermal atrophy, Dystrophic fingernails, Milia, Dystrophic toenail ORPHA:158673
Short Syndrome
Alopecia, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic bon... ORPHA:3163
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the h... ORPHA:73230
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Sparse body ha... ORPHA:79402
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
12Q14 Microdeletion Syndrome
Wide nose, Prominent nasal bridge, Micrognathia, Synophrys, Subcutaneous nodule, Downturned corne... ORPHA:94063
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Slender nose, Thin upper lip vermilion, Arachnodactyly, Convex nasal ridge... ORPHA:397695
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Silver-Russell Syndrome Due To 11P15 Microduplication
Clinodactyly of the 5th finger, Triangular face, Facial asymmetry ORPHA:231144
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Round face, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Narrow nasal ridge, Micrognathia, Secon... ORPHA:280365
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... ORPHA:1807
Clark-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... OMIM:617752
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Spott... OMIM:619719
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Coarse facial features, Anteverted nares, Tapered finger, Broad... OMIM:300602
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Distal widening of... OMIM:602535
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Tau... OMIM:157980
Keutel Syndrome
Long face, Peripheral pulmonary artery stenosis, Sinusitis, Depressed nasal bridge, Cartilaginous... OMIM:245150
Gapo Syndrome
Skin tags, Mandibular prognathia, Dysmenorrhea, Micrognathia, Thick nasal alae, Alopecia, Depress... ORPHA:2067
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Long nose, Abnormal facial shape, Triangular face, Open mouth, Long face ORPHA:85329
Arthrogryposis, Distal, Type 5
Arachnodactyly, Reduced forced expiratory volume in one second, Absent phalangeal crease, Restric... OMIM:108145
Periventricular Nodular Heterotopia 7
Microretrognathia, Round face, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:617201
Achondrogenesis Type 1A
Multiple rib fractures, Anteverted nares, Micrognathia, Short foot, Aplasia/Hypoplasia of the lun... ORPHA:93299
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Cutaneous finger sy... OMIM:151050
Achondrogenesis Type 1B
Anteverted nares, Micrognathia, Abnormal rib morphology, Short foot, Aplasia/Hypoplasia of the lu... ORPHA:93298
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Long penis, Abnormal rib mor... ORPHA:1988
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, ... OMIM:226700
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Irregular femoral epiphysis, Patellar ap... OMIM:613805
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Dysmenorrhea, Primary amenorrhea, Polycystic ovaries, Secondary a... ORPHA:79083
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Decreased fertility... ORPHA:1643
Hennekam-Beemer Syndrome
Macule, Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Subcutaneous nodu... ORPHA:2135
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda... ORPHA:1702
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Narrow mouth, Preauricular skin tag, ... ORPHA:1495
Dyskeratosis Congenita
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Ski... ORPHA:1775
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bron... OMIM:612444
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short... OMIM:605130
Loeys-Dietz Syndrome 4
Broad uvula, Arachnodactyly, Protrusio acetabuli, High, narrow palate, Pneumothorax, High palate,... OMIM:614816
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Dental crowding, Long fingers, Bulbous... ORPHA:230851
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe... OMIM:618506
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Uterine rupture, Em... OMIM:130050
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... OMIM:206920
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Synophrys, Macroorchidism, Sh... OMIM:300143
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Anteverted nares, Hypospadias, Fractured radius, Beaded ribs... OMIM:616897
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micrognathia, Postaxial hand polydactyl... OMIM:241800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:129900
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Epidermoid cyst, Micrognathia, Bulbous nose, Abnormal lung lobation, Spar... OMIM:614114
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Micrognathia, High, narrow p... ORPHA:1787
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, ... ORPHA:171839
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Hypospadias, Shoulder dimple, Dental crowding, Micrognathia, Precocious puberty, Cryp... ORPHA:96182
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Ca... ORPHA:920
Distal Monosomy 7Q36
Large face, Hypoplasia of penis, Micrognathia, Cryptorchidism, Bulbous nose, Non-midline cleft li... ORPHA:1636
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Long nose, Macroorchidism, Triangular face ORPHA:85327
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Sparse eyebrow, Dental malocclusi... ORPHA:444072
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Clinodactyly of the 5th fin... OMIM:615873
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Depressed nasal bridge, Hypermelanotic macule, Broad nasal tip, A... ORPHA:1830
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Cryptorchidism, Sm... ORPHA:3121
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation, Cleft ala nasi, Focal dermal aplasia/hypoplasia, Cryptorchi... OMIM:164180
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft palate, Ulnar ... ORPHA:921
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow face, Dental crowding, External genital hypoplasia, Convex nasal ridge, Micrognathia, Tibi... ORPHA:251028
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Triangular face, Arachnodactyly, Anteverted nares, Broad hallux, Hypoplasia of the... ORPHA:481152
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Camptodactyly of finger, Abnormal oral mucosa morphology, Underdeveloped nasal ala... ORPHA:1968
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Depressed nasal... OMIM:616331
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline,... OMIM:619950
Marbach-Rustad Progeroid Syndrome
Femur fracture, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Eruption fai... OMIM:619322
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Dentinogenesis imperfecta, Thin ribs, Tibial bowing, Slender l... OMIM:259420
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Simosa Craniofacial Syndrome
Highly arched eyebrow, Underdeveloped nasal alae, Long nose, High, narrow palate, Sparse eyebrow,... OMIM:182150
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deviation of finger, Arachnodactyly, Triangular face, Congenital finger flexion contractures ORPHA:1154
Blepharocheilodontic Syndrome 2
Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis, Distichiasis, Flat face, Facial a... OMIM:617681
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow face, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodo... ORPHA:391408
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvula, Long phil... OMIM:617506
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Highly arched eyebrow, Asymmetric, linear skin defects, Pulmonary arterial hypertensi... OMIM:300887
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Calcaneovalgus deformity, Thin skin OMIM:225320
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Coarse hair, Micro... ORPHA:1896
Distal Deletion 10Q
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod... ORPHA:96148
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Depressed nasal bridge, Micrognathia, Flared metaphysis, Respiratory insufficiency, Cle... OMIM:215100
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Taurod... ORPHA:2563
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Triangular face, Clitoral hyp... ORPHA:96181
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Micrognathia, Undulate ribs, Flat a... ORPHA:1801
Distal Deletion 3P
Preauricular pit, Sacral dimple, Anteverted nares, Micrognathia, Cryptorchidism, Postaxial hand p... ORPHA:1620
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... OMIM:613807
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly, Triangular face OMIM:617120
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept... OMIM:302950
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Sacral dimple, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, T... OMIM:615828
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, H... OMIM:616854
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Coarse facial features, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, A... ORPHA:93346
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners... OMIM:136140
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphy... OMIM:618618
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... OMIM:300558
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Facial asymmetry, Wide nasal bridge, Sym... ORPHA:710
Dubowitz Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Cryptorchidis... OMIM:223370
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Taurodontia, Widely spaced teeth, High palate, Enamel hypoplasia OMIM:618205
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger,... OMIM:132450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Round face, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Metaphyse... OMIM:613320
Trigonocephaly 1
High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Long philtrum, Preauricular skin t... OMIM:190440
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Cryptorchidism, Depressed nasal ridge, Gingival overgr... ORPHA:464288
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Coarse facial features, Tapered finger, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Depressed nasal bridge, Narrow mouth, Pulmonary lymphangiectasia... OMIM:616006
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Chronic bronchitis, Ab... OMIM:614874
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Arterial Tortuosity Syndrome
Respiratory distress, Median cleft lip and palate, Arachnodactyly, Rocker bottom foot, Coxa valga... ORPHA:3342
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Round face, Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory trac... OMIM:614069
Pterygium Colli, Isolated
Short nose, Low posterior hairline, Webbed neck OMIM:177990
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... ORPHA:531
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Wide distal femoral metaphysis, Dentinogenesis imperfecta, Gen... OMIM:614856
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Respiratory t... OMIM:618975
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Hypoplasia of the maxilla, Sho... OMIM:305400
Paganini-Miozzo Syndrome
Mandibular prognathia, Downturned corners of mouth, Thin vermilion border, Malar flattening, Tria... OMIM:301025
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Kleefstra Syndrome 1
Mandibular prognathia, Recurrent respiratory infections, Coarse facial features, U-Shaped upper l... OMIM:610253
Achondrogenesis
Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the lungs, Long philtrum, Short nose, Flat ... ORPHA:932
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth, Short philtrum, W... OMIM:301044
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Coarse facial features, Anteverted nares, Ab... ORPHA:884
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Camptodactyly Syndrome, Guadalajara Type 3
Numerous nevi, Thick eyebrow, Broad nasal tip, Thickened cortex of long bones, Abnormal rib morph... ORPHA:488434
Dermatosparaxis Ehlers-Danlos Syndrome
Depressed nasal bridge, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microgna... ORPHA:1901
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Ehlers-Danlos Syndrome, Periodontal Type, 1
Alveolar bone loss around teeth, Arachnodactyly, Atrophic scars, Periodontitis, Thin skin, Gingiv... OMIM:130080
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... ORPHA:3214
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Underdeveloped nasal alae,... ORPHA:1234
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Neonatal respiratory distress, Depressed nasal bridge, Ante... OMIM:618961
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Genu valgum, Downturned cor... ORPHA:2983
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Asthma, Oligozoospermia, Finger clinodactyly, Azoo... ORPHA:8
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner... OMIM:614935
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Short Stature, Microcephaly, And Endocrine Dysfunction
Triangular face, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Clinodactyly... OMIM:616541
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Cryptorchidism, Deep philtrum, R... OMIM:613563
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Mullegama-Klein-Martinez Syndrome
Prominent nose, Micrognathia, Low anterior hairline, Short philtrum, Clinodactyly of the 5th fing... OMIM:301022
Transaldolase Deficiency
Depressed nasal bridge, Asthma, Deep philtrum, Synophrys, Wide mouth, Thin vermilion border, Shor... OMIM:606003
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Camptodactyly of finger, Underdevelop... ORPHA:2083
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Bowing of the long bones, Short femur, Micrognathia... OMIM:613848
Periventricular Nodular Heterotopia
Shoulder dislocation, Thin skin ORPHA:98892
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Downturned corners of mouth, Genu varum, Long toe, Absent eyebrow, Alopecia, Depres... OMIM:264090
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Protruding tongue, ... OMIM:242860
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Wide nasal bridge, Abnormality of the male genitali... OMIM:614886
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short nail, Cryptorchidism, Accessory c... ORPHA:503
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters OMIM:132000
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Postaxial hand polydactyly, Long philtrum, S... ORPHA:1389
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Absent thumb, Micrognathia, Cryptorc... ORPHA:96097
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Hig... OMIM:618828
Trisomy 18
Microretrognathia, Narrow face, Choanal atresia, Camptodactyly of finger, Cryptorchidism, Postaxi... ORPHA:3380
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Melanocytic nevus, Oligozoospermia, Keloids, Facial asymmetry OMIM:314300
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Short philtrum, Camptoda... ORPHA:261337
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth, Tapered finger OMIM:617507
Macrocephaly-Intellectual Disability-Autism Syndrome
Numerous nevi, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot polydact... ORPHA:210548
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Dental crowding, Narrow nasal ridge, Micrognathia, Narrow mouth, Prematur... OMIM:608612
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o... OMIM:610759
Thoracomelic Dysplasia
Round face, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Abnormal pelvic gird... ORPHA:1803
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micrognathia, Crypto... ORPHA:93329
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinodactyly of th... OMIM:266920
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Highly ar... OMIM:615866
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge,... OMIM:228520
Chromosome 3Q29 Duplication Syndrome
Round face, Bulbous nose, Wide nasal bridge, Low posterior hairline, Short nose, Long face OMIM:611936
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... OMIM:617061
Keutel Syndrome
Long face, Recurrent respiratory infections, Wide nose, Alopecia, Depressed nasal bridge, Underde... ORPHA:85202
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Round face, Thin skin, Striae distensae OMIM:610475
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial asymmetry, Tapered finger, Respiratory tract infection, Long fingers, Hypoplasia of the ma... OMIM:218000
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvula, Genu varu... OMIM:615777
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Arachnodactyly, Micrognathia, Long fingers, High, narrow... ORPHA:284979
Intellectual Developmental Disorder, Autosomal Dominant 59
Sacral dimple, Highly arched eyebrow, Short foot, Long philtrum, Short palm, Flat face, Brachydac... OMIM:618522
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction ORPHA:36412
Chromosome 14Q11-Q22 Deletion Syndrome
Triangular face, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral crypt... OMIM:613457
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenes... OMIM:619718
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Malan Syndrome
Mandibular prognathia, Narrow face, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Ging... OMIM:614753
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Skin plaque, Milia, Papule ORPHA:89843
Down Syndrome
Depressed nasal bridge, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower ... ORPHA:870
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Anteverted nares, Spontaneous pneumothorax, Synophrys, Hydrocele testis, Flat face OMIM:618154
Restrictive Dermopathy 1
Micrognathia, Overtubulated long bones, Hypospadias, Depressed nasal bridge, Narrow nasal ridge, ... OMIM:275210
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow face, Micrognathia, Tapered finger, Narrow mouth, Synophrys, Wide nasal bridge, Narrow pal... OMIM:620250
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Flat face, Brachydactyly OMIM:616459
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu... ORPHA:140
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Micrognathia, Hypoplastic... ORPHA:1865
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, High palat... ORPHA:90153
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Broad thumb, Triangular face, Smooth philtrum, Brachydactyly OMIM:614526
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Short nose, Distichiasis ORPHA:2598
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Facial asymmetry, Supernumerary nipple, Sub... ORPHA:457279
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micrognathia, Cryptorchidism, Wide nasal bridge, Respiratory insufficie... OMIM:224410
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, L... ORPHA:534
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Hypospadias, Choanal atresia, Micrognathia, Cryptorchidism, Hypoplastic... OMIM:300712
Distal Deletion 15Q
Micrognathia, 2-3 toe cutaneous syndactyly, Finger clinodactyly, Short philtrum, Micropenis, Hypo... ORPHA:1596
Lymphangioleiomyomatosis
Macule, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventila... ORPHA:538
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Broad thumb, Short 4th metacarpal, Triangular face, Short 5th metacarpal OMIM:619638
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Cryptorchidism,... OMIM:614732
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Oligodontia, High palate, Short philtrum, Micropenis, Long face, Depressed nasal br... OMIM:309590
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Open mouth, Recurrent upper respiratory tract infections,... ORPHA:391372
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Micropenis, Depressed... OMIM:608156
Tolchin-Le Caignec Syndrome
Thick eyebrow, Arachnodactyly, Prominent nose, Precocious puberty, Micrognathia, Submucous cleft ... OMIM:618971
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... OMIM:268310
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Micrognathia, Atelectasis, Recurrent pneumonia, Wide nasal bridge, Pulmonary hypoplas... OMIM:613177
Trisomy 12P
Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth,... ORPHA:1699
Atelis Syndrome 2
Sacral dimple, Prominent nose, Micrognathia, Dyspnea, Bulbous nose, Diastema, Thick lower lip ver... OMIM:620185
Arterial Tortuosity Syndrome
Arachnodactyly, Micrognathia, Pulmonary artery stenosis, Bifid uvula, High palate, Thin skin, Lon... OMIM:208050
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossopto... OMIM:620269
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Apne... OMIM:608013
15q26 overgrowth syndrome
Long toe, Long face, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Facial asymm... DECIPHER:81
Pigmented Nodular Adrenocortical Disease, Primary, 1
Round face, Striae distensae, Thin skin, Secondary amenorrhea OMIM:610489
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, High pala... OMIM:612940
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Depressed nasal ridge, Cleft palate, Low posterior hairline, Wide ... ORPHA:1912
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorc... ORPHA:2409
Xeroderma Pigmentosum
Macule, Craniofacial hyperostosis, Alopecia, Hypermelanotic macule, Flat nasal alae, Abnormality ... ORPHA:910
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Highly arched eyebrow, Broad nasa... ORPHA:166108
Noonan Syndrome With Multiple Lentigines
Hypospadias, Cryptorchidism, Subcutaneous nodule, Decreased fertility, Wide nasal bridge, Melanoc... ORPHA:500
Cole-Carpenter Syndrome 2
Microretrognathia, Dentinogenesis imperfecta, Thin ribs, High palate, Narrow iliac wing, Triangul... OMIM:616294
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Absent frontal sinuses, Round face, Flat face, Torus palatinus ORPHA:2536
Atypical Werner Syndrome
Narrow face, Micrognathia, Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, S... ORPHA:79474
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Prominent nasal bridge,... OMIM:241080
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Pulmonary artery atresia, Micrope... OMIM:616894
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, High palate, Pursed lips, Cryptorchidism, Wide nasal brid... OMIM:193700
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of ... ORPHA:1798
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... ORPHA:364577
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Synophrys, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Highly arched... OMIM:614701
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ... OMIM:112250
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Bowing of the legs, Micrognathia, Metaphyseal widening, Deep philtrum... OMIM:255800
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Thick eyebrow, Anteverted nares, Micrognathia, Synophrys, Wide nasal bridge, Wide mou... OMIM:602562
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Short long bone, Brachydactyly ORPHA:221054
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Long philtrum, Uterine prolapse, Emphysema, Convex nasal ridge, Peripher... OMIM:123700
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Recurrent respiratory infections, Coarse facial featur... OMIM:619383
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Renpenning Syndrome 1
Mandibular prognathia, Narrow face, Brittle hair, Micrognathia, High palate, Short philtrum, Clin... OMIM:309500
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Anteverted nares, Sparse eyelashes, Abnormality of hair texture, Decreased fertilit... OMIM:234050
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bridge, Narrow nasal rid... OMIM:616914
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi... ORPHA:894
Mevalonic Aciduria
Triangular face ORPHA:29
Kosaki Overgrowth Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge, Xanthelasma, Thin skin OMIM:616592
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Tetrasomy 5P
Preauricular pit, Respiratory distress, Recurrent respiratory infections, Coarse facial features,... ORPHA:3309
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne... OMIM:613443
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Arboleda-Tham Syndrome
Respiratory distress, Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mout... OMIM:616268
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Micrognathia, Cleft soft palate, Abn... OMIM:618529
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, High pala... OMIM:618774
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Curly hair, Depressed nasal bridge, Short proximal phalanx of finger, C... OMIM:616638
Phosphoribosylpyrophosphate Synthetase Superactivity
Triangular face, Depressed nasal bridge, Hypospadias, Cryptorchidism, Wide mouth, High palate, Sp... OMIM:300661
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Respiratory insufficien... ORPHA:1914
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Hypoplasia of the maxil... ORPHA:560
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Abnormal pattern of respiration, Long philtrum ORPHA:833
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Wide nose, Sandal gap, High palate, Long philtrum, Clinodactyly of the ... OMIM:616652
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Dry hair, Prominent nasal bridge, Delayed eruption of primar... OMIM:133540
Leopard Syndrome 1
Mandibular prognathia, Hypospadias, Missing ribs, Delayed menarche, Cryptorchidism, Depressed nas... OMIM:151100
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Adducted thumb, Hydrocele testis, Notched primary central incisor, High anteri... OMIM:620062
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Cleft upper lip, Cryptorchidis... OMIM:243310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Micrognathia, Retrognathia, Apneic episodes in infancy, Supernumerary ribs, S... ORPHA:163961
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ... OMIM:268400
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Abnormal epiphysis morphology, Mal... ORPHA:250984
Osteoglophonic Dysplasia
Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruptio... OMIM:166250
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Thick hair, Highly arched eyebrow, Tapered finger, Broad nasal tip, Small ... ORPHA:401923
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
Oculocerebrocutaneous Syndrome
Skin tags, Finger syndactyly, Alopecia, Congenital hip dislocation, Aplasia/Hypoplasia of the ski... ORPHA:1647
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Geroderma Osteodysplastica
Mandibular prognathia, Hip dislocation, Abnormal epiphysis morphology, Thin skin, Malar flattening ORPHA:2078
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Triangular face, Anteverted nares, Overlapping toe, Dental crowding, Broad... OMIM:617402
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior ha... OMIM:613458
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Small scrotum, Depressed nasal bridge, Rocker bottom foot, Tapered fing... OMIM:601353
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, External genita... ORPHA:329178
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Broad ... ORPHA:2834
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Synophrys, Low anterior ... OMIM:612289
Noonan Syndrome
Abnormal hair quantity, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Pulmonary ar... ORPHA:648
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... OMIM:604625
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis... ORPHA:79411
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Metaphyseal sclerosis, Genu valgum, Premature graying of hair, Fine hai... OMIM:612199
Bruck Syndrome
Bowing of the long bones, Triangular face, Respiratory insufficiency ORPHA:2771
Witteveen-Kolk Syndrome
Narrow face, Proximal placement of thumb, High, narrow palate, Male urethral meatus stenosis, Mic... OMIM:613406
Verheij Syndrome
Thin upper lip vermilion, Square face, Anteverted nares, Broad nasal tip, Hip dislocation, Wide n... OMIM:615583
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, N... ORPHA:3107
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, High palate, Short philtrum, Sparse hair, Depressed nasal bridge, Narrow nasal ridg... OMIM:619127
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Absent eyelashes, Hy... OMIM:200110
Trisomy 20P
Micrognathia, Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, Mi... ORPHA:261318
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crowding, Short ... OMIM:617877
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hypotonia, Ataxia, And Delayed Development Syndrome
Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Prominent nasal bridge, Broad nasal ti... OMIM:617330
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo... ORPHA:244
Acth-Independent Macronodular Adrenal Hyperplasia
Round face, Thin skin, Striae distensae OMIM:219080
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Prader-Willi Syndrome Due To Translocation
Respiratory distress, External genital hypoplasia, Prominent nose, Micrognathia, Downturned corne... ORPHA:177907
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Recurrent respiratory infections, Anteverted nares, Abnormal thumb morphol... ORPHA:1842
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Hirsutism, Oligomenorrhea, Thin skin OMIM:219090
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Anteverted nares, Hypospadias, Cleft soft palate, Micrognathia,... ORPHA:2282
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Coarse facial features, Prominent nose, Micrognathia, Long fingers, Wide... OMIM:615668
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microd... ORPHA:2044
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v... ORPHA:90653
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge OMIM:200130
Marfan Syndrome
Pulmonary artery dilatation, Narrow face, Arachnodactyly, Protrusio acetabuli, Dental crowding, E... OMIM:154700
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Narrow face, Brittle hair, Dry hair, Macroglossia, Nail dystrophy, Triangular face, Long face ORPHA:93947
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Micrognathia, High... OMIM:615042
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges... ORPHA:2547
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Short nose, Long face ORPHA:496790
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Broad eyebrow, Anteverted nares, Choanal atresia, Hypospadias, Micrognathia, Cryptorc... OMIM:616975
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert... OMIM:610015
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Recurrent bronchopulmonary infec... OMIM:604173
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Chops Syndrome
Curly hair, Round face, Coarse facial features, Anteverted nares, Thick hair, Thick eyebrow, Cryp... OMIM:616368
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum OMIM:618218
Scarf Syndrome
Bifid scrotum, Coarse facial features, Cryptorchidism, Perineal hypospadias, Micropenis, Low post... ORPHA:3134
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Glossoptosis, Rib exostoses, Clinodactyly of the 5th finger, S... ORPHA:2108
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum, Shawl scrotum ORPHA:85277
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Sho... ORPHA:3258
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of t... OMIM:257850
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Dental crowding, Narrow mouth, Atrophic scars, Long philtrum, High palate, Campto... OMIM:615539
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth ORPHA:228384
Marfan Syndrome
Narrow face, Arachnodactyly, Protrusio acetabuli, Spontaneous pneumothorax, Dental crowding, Micr... ORPHA:558
Toluene Embryopathy
Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Hypoplasia of the zygomatic ... ORPHA:1920
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... ORPHA:2994
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Subcutaneous nod... ORPHA:1791
Fetal Trimethadione Syndrome
Depressed nasal bridge, Hypospadias, Micrognathia, Synophrys, High palate, Ambiguous genitalia, S... ORPHA:1913
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Downturned cor... ORPHA:261494
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Sandal gap, 2-3 toe syndactyly, Long philtrum, Abnormal faci... ORPHA:477817
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... OMIM:154780
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Depressed nasal bridge, Hypospad... OMIM:217980
Degcags Syndrome
Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, High p... OMIM:619488
Alagille Syndrome 2
Long nose, Triangular face, Peripheral pulmonary artery stenosis OMIM:610205
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Coarse facial features, Cryptorchidism, Synophrys, Wide nasal bridge, D... OMIM:618067
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Triang... ORPHA:3464
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, High, narrow palate, Clinodactyly, Femoral bowing, Abnormal ovarian morpholog... ORPHA:95699
Rhizomelic Chondrodysplasia Punctata
Alopecia, Abnormality of the dentition, Epiphyseal stippling, Abnormal epiphysis morphology, Spar... ORPHA:177
Osteogenesis Imperfecta, Type I
Femoral bowing, Hip dysplasia, Thin skin, Finger joint hypermobility, Dentinogenesis imperfecta OMIM:166200
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
C Syndrome
Short metacarpal, Toe syndactyly, Anteverted nares, Accessory oral frenulum, Micrognathia, Crypto... OMIM:211750
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Downturned corners of... OMIM:156200
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the dentition, Skin ulcer, Abno... ORPHA:1657
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth,... OMIM:615502
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Cleft soft... ORPHA:2756
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Bulbous nose, Pneumothorax, Hip dislocation, Wide nasal bridge, Hip dys... OMIM:617403
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Hip dysplasia, Short nose, Long face OMIM:617183
Werner Syndrome
Sparse scalp hair, Narrow face, Aplasia/Hypoplasia of the skin, Rocker bottom foot, Abnormal hair... ORPHA:902
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Skin ulcer, Low posterior hair... OMIM:170100
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Rocker bottom foot, Cryp... ORPHA:363528
Achondrogenesis, Type Ib
Hypoplastic ilia, Respiratory insufficiency, Short ribs, Malar flattening, Flat face OMIM:600972
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Aplasia cuti... ORPHA:1114
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal pha... OMIM:300863
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... ORPHA:79100
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge... OMIM:614437
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Coarse facial features, Radial bowing, Depressed nasal bridge, Dumbbell-sha... OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Brittle hair, Abnormality of hair texture, Carious ... OMIM:219200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Flat acetabular roof, Flatten... ORPHA:163649
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Depressed nasal bridge, Anteve... ORPHA:314655
Flynn-Aird Syndrome
Carious teeth, Alopecia, Alopecia of scalp, Dermal atrophy OMIM:136300
Meckel Syndrome, Type 8
Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Ambiguous genitalia, Short nose OMIM:613885
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Coarse facial features, Thick eyebrow, Depressed nasal bridge, Highly arched eyebrow, Downturned ... OMIM:617865
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Broad nasal tip, Cleft lip, Low anterior hairline, Narrow palate, Depress... OMIM:618223
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Coarse facial features, Tented upper lip vermilion, Depressed nasa... OMIM:619833
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Short philtrum, W... ORPHA:466791
Tetrasomy 18P
Narrow mouth, Thin vermilion border, Long philtrum, Short nose, Facial asymmetry ORPHA:3307
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita, Anteverted nares, Underdeveloped nasal alae OMIM:612138
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Cryptorchidism, Dermal atrophy, Narrow mouth, Bird-like facies, Ma... OMIM:615381
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,... ORPHA:500150
3Q29 Microdeletion Syndrome
Narrow face, Hypospadias, Prominent nasal bridge, Facial asymmetry, Tapered finger, Dental crowdi... ORPHA:65286
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Round face, Micrognathia, Metaphyseal widening, Advan... OMIM:224400
Barber-Say Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Anteverted nares, Bulbous nose, Wide n... ORPHA:1231
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Und... ORPHA:2315
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philt... OMIM:617333
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Long nose, Flat face, Duplication of the distal phalanx of the hallu... OMIM:180750
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Triangular face, Protrusio acetabuli, Coxa vara OMIM:610968
Ataxia-Telangiectasia
Recurrent respiratory infections, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Polyc... ORPHA:100
Noonan Syndrome 1
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, High, narrow palate, Dental malocclu... OMIM:163950
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Thin skin, Long face ORPHA:449291
Peroxisome Biogenesis Disorder 13A (Zellweger)
Triangular face, Depressed nasal bridge, Wide nasal bridge, Micrognathia OMIM:614887
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten... OMIM:615716
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose, Fl... OMIM:122880
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, Pl... OMIM:235510
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Depressed nasal bridge, Protrusio acetabuli, Dental c... OMIM:225400
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... OMIM:209885
Alkuraya-Kucinskas Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Clinodact... OMIM:617822
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Symphalangism affecting the phalanges of the ha... ORPHA:2990
Coffin-Siris Syndrome
Low anterior hairline, Aspiration pneumonia, Abnormal facial shape, Thick nasal alae, Depressed n... ORPHA:1465
Fetal Alcohol Syndrome
Thin upper lip vermilion, Narrow face, Anteverted nares, Micrognathia, Non-midline cleft lip, Cle... ORPHA:1915
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Round face, Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous n... OMIM:619103
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Rectovaginal fistula, Pulmonary hypoplasia,... OMIM:619708
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... OMIM:114290
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... OMIM:269250
Warburg-Cinotti Syndrome
Dental crowding, Underdeveloped nasal alae, Pneumothorax, Gingival overgrowth, Osteolytic defects... OMIM:618175
19P13.13 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... ORPHA:357001
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Absent outer d... OMIM:244400
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose,... OMIM:614105
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered... OMIM:618430
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... OMIM:605282
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Round face, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... ORPHA:1427
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Abnormality of thumb phalanx, ... ORPHA:1553
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Depressed nasal bridge, Hypospadias... OMIM:619479
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal bridge, Missing ribs, Micrognathia, Depressed nasal ridge, ... OMIM:608022
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Wide nasal bridge, Gingival overgrowth, Downturned... OMIM:618729
17Q24.2 Microdeletion Syndrome
Thin upper lip vermilion, Micrognathia, Synophrys, Upper limb undergrowth, Wide nasal bridge, Sec... ORPHA:529962
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow ORPHA:3406
Ring Chromosome 7 Syndrome
Mandibular prognathia, Low anterior hairline, Short philtrum, Clinodactyly of the 5th finger, Bif... ORPHA:1449
Larsen-Like Syndrome
Dental malocclusion, Cleft palate, Absent nasal bridge, Radial deviation of the 4th finger, Clino... OMIM:608545
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Aplasia cutis congenita, Widely spaced toe... OMIM:609638
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Synophrys, Low ... OMIM:213980
Bloom Syndrome
Male infertility, Narrow face, Premature ovarian insufficiency, Sparse eyelashes, Pneumonia, Bron... ORPHA:125
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Tapered finger, Hip dysplasia, Abnormal facial shape, ... ORPHA:544503
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93259
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Hydro... OMIM:613603
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Neonatal respirato... ORPHA:79345
Vici Syndrome
Recurrent respiratory infections, Wide nose, Median cleft lip, Depressed nasal bridge, Everted up... OMIM:242840
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Round face, Micrognathia, Absent frontal sinuses, Prematu... OMIM:224300
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Hypoplasia of the radius, Cafe-au-lait spot, Short 1st metacarpal, Tri... OMIM:609053
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... ORPHA:90652
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Widely spaced teeth, High palate,... OMIM:612474
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... ORPHA:1366
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n... OMIM:619522
Ctcf-Related Neurodevelopmental Disorder
Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Clinodactyly of the ... ORPHA:363611
Menke-Hennekam Syndrome 2
Narrow nasal bridge, Thin upper lip vermilion, Square face, Depressed nasal bridge, Overlapping t... OMIM:618333
Renal And Mullerian Duct Hypoplasia
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor... OMIM:266810
Sarcoidosis
Abnormal nasal mucosa morphology, Alopecia, Abnormal pleura morphology, Abnormal reproductive sys... ORPHA:797
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypoplasia of the maxilla, Abnormal hair whorl, Cleft palate, Capillary malformation, ... OMIM:614261
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Coarse facial features, Generalized hypertrichosis, Long ... ORPHA:50810
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin... ORPHA:257
Specc1L-Related Hypertelorism Syndrome
Preauricular pit, Finger syndactyly, Brachydactyly, Round face, Prominent nasal bridge, Highly ar... ORPHA:1519
Opsismodysplasia
Recurrent respiratory infections, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hy... ORPHA:2746
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Flat capital femoral epiphysis, Genu valgum, Irregular capital femoral epip... OMIM:614134
Fanconi Anemia, Complementation Group C
Hypopigmented macule, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism... OMIM:227645
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Recurrent respiratory infections, Depressed nasal bridge,... ORPHA:7
Halperin-Birk Syndrome
Micrognathia, Hip dislocation, High palate, Thick vermilion border, Long eyelashes, Aspiration, T... OMIM:618651
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys, Protruding tongue DECIPHER:52
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face ORPHA:65288
Sarcoidosis, Susceptibility To, 1
Dyspnea, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restric... OMIM:181000
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi... OMIM:610536
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Tapered finger, Crypt... OMIM:615803
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Subcutaneous nodule,... ORPHA:286
Thanatophoric Dysplasia
Depressed nasal bridge, Abnormal sacroiliac joint morphology, Respiratory insufficiency, Hip dysp... ORPHA:2655
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Apnea, Vaginal neoplasm, Micrognathia, Depressed nasal ridge, Abnormal lung lobation, ... ORPHA:1052
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... OMIM:614814
Wiedemann-Rautenstrauch Syndrome
Synophrys, Wide penis, Downturned corners of mouth, Short philtrum, Sparse hair, Premature loss o... ORPHA:3455
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Arachnodactyly OMIM:219100
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Triangular face, Brachydactyly ORPHA:3218
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... OMIM:616580
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
Antley-Bixler Syndrome
Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly of finger, Abnormal rib morpholo... ORPHA:83
Fabry Disease
Coarse facial features, Dyspnea, Subcutaneous nodule, Chronic pulmonary obstruction, Abnormal fem... ORPHA:324
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... ORPHA:2557
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Flat face, Wide nasal bridge OMIM:614859
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Tapered finger, Bulbous nose, Micropenis, Interphalangeal thumb joint con... OMIM:613870
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... OMIM:615349
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Prominent nose, Downturned corners of mouth, Short philtrum, High ... OMIM:615510
Cardiofaciocutaneous Syndrome
Brittle hair, Webbed neck, High palate, Sparse hair, Dystrophic fingernails, Long face, Depressed... ORPHA:1340
Osteogenesis Imperfecta
Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, ... ORPHA:666
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarse facial features, Deep philtrum, Respiratory insufficiency, Wide mouth, Triangular face, Sm... OMIM:617260
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Micrognathia, Synophrys, Low anterior hairline, Short palm, Clinodactyly of the 5t... OMIM:616734
Alagille Syndrome
Hypoplasia of the ulna, Round face, Coarse facial features, Micrognathia, Long nose, Cryptorchidi... ORPHA:52
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Exag... ORPHA:261236
Warburg Micro Syndrome 3
Small scrotum, Micrognathia, Hypoplastic labia minora, Low anterior hairline, Narrow palate, Micr... OMIM:614222
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Arachnodactyly, Micrognathia, Synophrys, Hip dislocation, Atypical sc... ORPHA:536545
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Asthma, A... ORPHA:330015
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... ORPHA:2753
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal phalanges of th... OMIM:271665
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face, Bilateral cleft lip OMIM:616994
Proximal 16P11.2 Microduplication Syndrome
Thin upper lip vermilion, Arachnodactyly, Sparse eyelashes, Abnormality of the hairline, Sparse e... ORPHA:370079
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Monosomy 9P
Proximal placement of thumb, Micrognathia, Synophrys, High palate, Long philtrum, Depressed nasal... ORPHA:261112
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert... ORPHA:280200
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, Atypical scarring of skin... ORPHA:60030
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hip dislocation, Wide mouth, Abnormal facial shape, Long philtrum, Short ... OMIM:608776
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh... OMIM:618332
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Facial hyperostosis, Submucous clef... ORPHA:2780
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Round face, Thin upper lip vermilion, Thick eyebro... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Dental crowding, Underde... OMIM:619005
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres... ORPHA:87
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Narrow nasal r... OMIM:606721
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Clinodac... OMIM:618454
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Subcutaneous nod... ORPHA:31204
Opsismodysplasia
Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Ant... OMIM:258480
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Long nose, Narrow greater sciatic notch, Abnormal facial shape, Short phalanx of fi... ORPHA:508533
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Wide nose, Coarse facial features, Arachnodactyly, Synophrys, Hirsutism, Thin ribs, Abnormal colu... ORPHA:2463
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Tented upper lip vermilion, Tapered toe, Shoulder flexion ... OMIM:620369
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Wi... ORPHA:2510
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Coarse hair, ... OMIM:303600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen... OMIM:301040
Feingold Syndrome 1
Anteverted nares, Micrognathia, Short thumb, Short toe, 4-5 toe syndactyly, Wide nasal bridge, 2-... OMIM:164280
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Hirsutism, Sparse hair, Clinodactyly, Short nose OMIM:618087
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... OMIM:211350
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f... ORPHA:251071
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Sacral dimple, Thin upper lip vermilion, An... OMIM:247200
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Desmosterolosis
Aplasia/Hypoplasia of the skin, Depressed nasal bridge, Abnormality of the nose, Metatarsus adduc... ORPHA:35107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Fac... ORPHA:438216
Pallister-Hall Syndrome
Abnormal lung lobation, Micropenis, Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridg... OMIM:146510
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Cushing Disease
Sparse scalp hair, Intra-oral hyperpigmentation, Hirsutism, Skin ulcer, Secondary amenorrhea, Moo... ORPHA:96253
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathi... ORPHA:476126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebro... OMIM:239300
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Flat face, Bowing of the legs ORPHA:156728
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Hypoplastic ilia, Abnormal sacroil... ORPHA:1860
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Hypertrichosis, Downturned corners o... OMIM:618590
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad eyebrow, Sparse scalp hair, Depressed nasa... OMIM:601088
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Anteverted nares, Bowed humerus, Tarsa... OMIM:272460
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Hypermobile Ehlers-Danlos Syndrome
Apnea, Abnormality of the menstrual cycle, Abnormality of the dentition, Abnormality of the gingi... ORPHA:285
Raine Syndrome
Mandibular prognathia, Micrognathia, Choanal stenosis, High palate, Microdontia, Long hallux, Dep... OMIM:259775
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Tibial bowing, H... OMIM:269150
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema, Abnormality ... ORPHA:363618
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Numerous nevi, Micrognathia, Deep philtrum, High palate,... OMIM:115150
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... ORPHA:50945
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ... ORPHA:69735
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Convex... OMIM:614564
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Neonatal inspiratory stridor, Hip subluxati... ORPHA:93360
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Hip dislocation, Recurrent pneumonia, Respiratory insufficiency, Abnormal facial sh... ORPHA:90349
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow... OMIM:601345
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Abnormality of th... OMIM:271510
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Sparse eyebrow, Abnormal facial sh... ORPHA:457359
Zellweger Syndrome
Hypospadias, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bridge, Respiratory... ORPHA:912
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Glandula... ORPHA:1358
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Long eyelashes, Recurrent lower respiratory tr... OMIM:617802
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Atelectasis, Short toe, Re... OMIM:269860
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Aplasia/Hypoplasia of the skin, Sparse eyelash... ORPHA:2909
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Prominent nasal bridge, Cryptorchidism, Low anterior hairline, Mi... OMIM:614225
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Highly arched eyebrow, Sparse eyebr... OMIM:618419
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Apnea, Micrognathia ORPHA:1129
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Abnormalit... OMIM:612394
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Coarse facial features, Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Hyd... OMIM:614080
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiorespirato... OMIM:616503
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palat... ORPHA:1790
Trisomy 8P
Short fourth metatarsal, Abnormal lung lobation, Clinodactyly of the 5th finger, Micropenis, Bifi... ORPHA:264450
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Hypospadias, Hypoplastic nipples, Narrow mouth, Malar flattening, Hypoplastic ... OMIM:177980
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Sparse eyebrow, High palate, Malar... OMIM:617011
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... ORPHA:3078
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Penile freckling, Hydrocele testis, Coarse hair, High palate, Long philtr... OMIM:605309
Bartsocas-Papas Syndrome 1
Skin tags, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac w... OMIM:263650
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Skin tags, Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary la... OMIM:610706
Donnai-Barrow Syndrome
Depressed nasal bridge, Widow's peak, Bicornuate uterus, Abnormality of the uterus, Short nose ORPHA:2143
Cerebrofaciothoracic Dysplasia
Wide nose, Thick eyebrow, Abnormal hair pattern, Cleft upper lip, Synophrys, Rib fusion, Cleft pa... ORPHA:1394
Peho Syndrome
Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Open mouth OMIM:260565
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Aspiration pneumonia, Lo... OMIM:616430
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Downturned corners of mouth, Slender long bone, Coarse hair, Thick vermilion bo... ORPHA:1185
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Long fingers, Cleft palate, Circumferential skin creases on... OMIM:156610
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Depressed nasal b... OMIM:108720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate... OMIM:271640
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, ... ORPHA:99429
Weiss-Kruszka Syndrome
Preauricular pit, Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, Highly ... OMIM:618619
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... OMIM:211380
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Tented upper ... OMIM:616723
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Cr... OMIM:257300
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal meta... ORPHA:93274
Distal Deletion 9P
Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ... ORPHA:1642
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Tented upper lip vermilion, Apnea, Rocker bottom foot, M... ORPHA:521426
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93260
Autosomal Dominant Cutis Laxa
Hip dislocation, Bronchiectasis, Abnormal facial shape, Bronchiolitis, Emphysema, Triangular face... ORPHA:90348
Schwartz-Jampel Syndrome
Apnea, Micrognathia, Low anterior hairline, Coxa vara, High palate, Generalized hirsutism, Pursed... ORPHA:800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Synophrys, High palate, Recurrent aspiration pneumonia, Prominent pal... ORPHA:280633
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl... OMIM:618571
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ... OMIM:613658
Omodysplasia 1
Short humerus, Depressed nasal bridge, Increased fibular diameter, Malar flattening, Micrognathia... OMIM:258315
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Abnormality of the uterus, N... ORPHA:59315
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted ... OMIM:619124
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Thick eyebrow, Congenital hip dislocation, Depressed nasal bridge, Underde... OMIM:616007
Apert Syndrome
Mandibular prognathia, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal sten... OMIM:101200
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Branchioskeletogenital Syndrome
Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Downturned cor... ORPHA:1299
Viss Syndrome
Micrognathia, High, narrow palate, High palate, Broad uvula, Emphysema, Bifid uvula, Long toe, Mi... OMIM:619472
Lichen Planopilaris
Alopecia, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral cavity, Pa... ORPHA:525
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Depressed nasal b... ORPHA:2136
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Webbed neck, Shoulder dislocation, Microdontia, Dislocated radial head, Microretrog... OMIM:245600
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spondyloepiphyseal Dysplasia Congenita
Coarse facial features, Short femur, Micrognathia, Upper limb undergrowth, Flat acetabular roof, ... ORPHA:94068
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Asthma, Triangular mouth, Fine hair, Tiger tail banding, Hypogonadis... OMIM:601675
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo... ORPHA:261144
Adams-Oliver Syndrome 2
Alopecia, Depressed nasal bridge, Micrognathia, Bulbous nose, Low anterior hairline, Absent dista... OMIM:614219
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Round face, Tented upper lip vermilion, Depressed nasal bridge, Anteverted... OMIM:300912
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Dental crowding, Convex nasal ridge, Narrow nasal ridge, Down-slopin... OMIM:248370
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... OMIM:605627
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Micrognathia, Wide nasal bri... ORPHA:2062
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Micropenis, Abnormal facial shape, Cryptorchidism, Humeror... OMIM:134780
Tetrasomy 9P
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac... ORPHA:3310
Alg9-Cdg
Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Aplasia cutis congenita of sc... ORPHA:79328
Cutis Laxa, Autosomal Dominant 3
Hip dislocation, Triangular face, Adducted thumb OMIM:616603
Gomez-Lopez-Hernandez Syndrome
Alopecia, Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smo... OMIM:601853
Aymé-Gripp Syndrome
Thin upper lip vermilion, Sparse scalp hair, Depressed nasal bridge, Rocker bottom foot, Asymmetr... ORPHA:1272
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Tapered finger, Cryptorchidism, Cleft lip, Pneumotho... ORPHA:2953
Rothmund-Thomson Syndrome Type 2
Long nose, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Short phalanx of finger, G... ORPHA:221016
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Coarse facial features, Tented upper lip vermilion, Apnea, Rocker bottom foot, Postaxial polydact... OMIM:617527
Carney Complex
Atypical nevi in non-sun exposed areas, Moon facies, Leydig cell neoplasia, Abnormal sperm motili... ORPHA:1359
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Abnormal de... ORPHA:1782
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Sparse scalp hair, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Co... OMIM:130070
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal hair morphology, Premature graying of hair... ORPHA:1979
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Anteverted nares, Tented upper lip vermilion, Abnormali... ORPHA:847
Ogden Syndrome
Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Short philtrum, High palate, Clin... OMIM:300855
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Abnormal facial shape ORPHA:289266
Peroxisome Biogenesis Disorder 7A (Zellweger)
Epiphyseal stippling, High palate, Flat face, Long philtrum OMIM:614872
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Synophrys, Short nose ORPHA:284169
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Narrow face, Prom... ORPHA:1225
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Anteverted nares, Hypospadias, Epispad... ORPHA:3339
Dermotrichic Syndrome
Short nose, Depressed nasal bridge, Nail dystrophy ORPHA:99688
Monosomy 22
Finger syndactyly, Wide nose, Synophrys, Clubbing, Prominent nasolabial fold, Thin vermilion bord... ORPHA:96123
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Dyspnea, 2-3 toe syndactyly, Narrow mouth, Triangular face, Exertional dyspnea OMIM:616539
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Thin skin OMIM:615895
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Decreased fertility in females, Labial hypertrophy, Hirsutism, Decreased f... OMIM:269700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Prominent eyelashes, Wide nasal b... OMIM:619179
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Depressed nasal bridge, High, narrow palate, Short philtrum, Tr... OMIM:619575
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Anteverted nares, Highly arched eyebrow, Protruding tongue, Cryptorchidism, ... ORPHA:96147
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Micrognathia, Bilateral cleft lip and palate, Broad thumb, Clinodactyly of the 5th finger, Bifid ... ORPHA:2001
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Respiratory insufficiency, Glossoptosis, Clinodactyl... ORPHA:2031
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Decreased fertility in females, Labial hypertrophy, Hirsutism, Polycystic ... OMIM:608594
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Jacobsen Syndrome
Long hallux, Broad columella, Long philtrum, Broad hallux phalanx, Finger syndactyly, Anteverted ... ORPHA:2308
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Depressed nasal bridge, Pulmonary lymphangiectasia, Wide nasal ... OMIM:265300
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Micrognathia, Protruding tongue, Neonatal asphyxia, Low anterior hairline, Hypertricho... OMIM:608779
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu... OMIM:602875
Icf Syndrome
Recurrent respiratory infections, Depressed nasal bridge, Protruding tongue, Micrognathia, Macrog... ORPHA:2268
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Flared met... ORPHA:2347
Mevalonic Aciduria
Triangular face, Underdeveloped nasal alae OMIM:610377
Jacobsen Syndrome
U-Shaped upper lip vermilion, Recurrent respiratory infections, Depressed nasal bridge, Hypospadi... OMIM:147791
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, ... OMIM:301030
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short met... ORPHA:3404
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Round face, Anteverted nares, Hypospadias, Rocker bottom foot, Mic... OMIM:214100
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Abnormal lung lobation, Postauricular pit, Narrow greater sciatic notch, S... OMIM:312870
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Prominent nasal bridge, Broad nasal tip, Micrognathia, Oval face, ... OMIM:300749
Rothmund-Thomson Syndrome Type 1
Patellar hypoplasia, Sparse hair, Microdontia, Short phalanx of finger, Genu varum, Short metacar... ORPHA:221008
Camptodactyly Syndrome, Guadalajara, Type Iii
Nevus, Absent phalangeal crease, Webbed neck, Malar flattening, Micropenis, Retrognathia, Flat fa... OMIM:611929
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Tapered finger, Open mouth, Gingival overgrow... ORPHA:2836
Holoprosencephaly 7
Synophrys, Hypoplastic nasal septum, Median cleft palate, Hypoplasia of the premaxilla, Bilateral... OMIM:610828
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Malar flattening, Flat face OMIM:109120
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clin... ORPHA:373
Peroxisome Biogenesis Disorder 3B
Malar flattening, Abnormal facial shape, Depressed nasal ridge, Flat face OMIM:266510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all d... OMIM:614749
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, Respiratory ... OMIM:614052
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, U... OMIM:618820
Larsen Syndrome
Short metacarpal, Depressed nasal bridge, Short nail, Spatulate thumbs, Cleft upper lip, Cryptorc... OMIM:150250
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Premature thelarche, Prominent nose, Bilateral cryptorchid... OMIM:180849
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Triangular face, Apnea, Convex nasal ridge OMIM:609069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hip dislocation, Wide nasal bridge, Hirsutism, High palate, Recurrent lower respiratory tract inf... OMIM:618005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D... OMIM:615398
Richieri Costa-Da Silva Syndrome
Abnormality of the dentition, Metatarsus adductus, Low anterior hairline, Genu valgum, Narrow mou... ORPHA:3101
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Pierre-Robin sequence, Hip dislocation, Flattened epiphysis, Coxa vara, Cle... OMIM:183900
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Bicornuate uterus, Short sternum, Malar flattening, Shor... OMIM:222448
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Oral ulcer, E... ORPHA:79480
Gapo Syndrome
Alopecia, Depressed nasal bridge, Anteverted nares, Epidermoid cyst, Micrognathia, Sparse eyebrow... OMIM:230740
Aspartylglucosaminuria
Large face, Recurrent respiratory infections, Coarse facial features, Mandibular prognathia, Abno... ORPHA:93
Flynn-Aird Syndrome
Carious teeth, Alopecia, Dermal atrophy, Skin ulcer ORPHA:2047
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnormal faci... ORPHA:2556
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Broad face, Narrow mouth, Short nose OMIM:613735
Congenital Disorder Of Glycosylation, Type Ii
Flat face, High palate, Wide nasal bridge OMIM:607906
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr... ORPHA:77301
Geleophysic Dysplasia 1
Short palm, Round face, Anteverted nares, Camptodactyly of finger, Coxa valga, Short foot, Wide m... OMIM:231050
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the skin, Alopecia, Absent toe, Split han... ORPHA:974
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,... OMIM:118450
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Ambiguous genitalia, female, Alveolar r... OMIM:602398
Sotos Syndrome
Hip contracture, Narrow face, Coarse facial features, Hypospadias, Phimosis, Abnormality of the d... ORPHA:821
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneum... ORPHA:444077
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous geni... ORPHA:786
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Coarse facial features, Abnormal pleura morphology, Metatarsus ... ORPHA:584
Distal Deletion 12Q
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl... ORPHA:96149
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Small cell lung carcinoma, Intra-oral hyperpigmentation, Hirsutism, Secondary ... ORPHA:99889
Trisomy 10P
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathi... ORPHA:171929
Lathosterolosis
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand... ORPHA:46059
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnormal pelvic gi... OMIM:302960
C Syndrome
Sacral dimple, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum,... ORPHA:1308
Jaberi-Elahi Syndrome
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Sparse eyebrow, Triangular mouth, Fine ha... OMIM:617988
Focal Dermal Hypoplasia
Cleft ala nasi, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, ... OMIM:305600
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Choanal stenosis, ... ORPHA:798
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Myotonic Dystrophy 2
Hypogonadism, Frontal balding, Oligozoospermia OMIM:602668
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Micrognathia, Subcutaneous nodule, Narrow palate, Long philtrum, Nev... ORPHA:109
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Peters Plus Syndrome
Micrognathia, Clitoral hypoplasia, Abnormal pulmonary vein morphology, Widely spaced teeth, Clino... ORPHA:709
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline,... ORPHA:199
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal ph... OMIM:101400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Widely spaced teeth, Micropenis, Abnormal facial shape, Hypospadias, Cleft s... ORPHA:268261
Pallister-Hall Syndrome
Small scrotum, Depressed nasal ridge, Abnormal lung lobation, Micropenis, Bifid uvula, Aplasia/hy... ORPHA:672
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... OMIM:613038
Zttk Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Sh... OMIM:617140
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Kindler Epidermolysis Bullosa
Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental ename... ORPHA:2908
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Sacral dimple, Broad n... OMIM:617157
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... OMIM:602400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Facial asymmetry, Abnormality of the dentition, Avascular necrosis of the capi... ORPHA:93315
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossoptosis, Advanced eruption o... ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Broad nasal tip, Hi... OMIM:300966
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Dystrophic fingernails, Papul... ORPHA:740
Geleophysic Dysplasia 2
Thin upper lip vermilion, Respiratory insufficiency, Cone-shaped epiphysis, Short foot, Short pal... OMIM:614185
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Liver Disease, Severe Congenital
Dry hair, Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Pneumonia, Micrognathia, Hydro... OMIM:619991
Xfe Progeroid Syndrome
Narrow face, Premature ovarian insufficiency, Enamel hypoplasia, Dermal atrophy, Premature loss o... OMIM:610965
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Thin upper lip vermilion, Abnormal location of the eyebrow, Equinus calcaneus, Wid... ORPHA:522077
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalange... OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Narrow face, Small scrotum, High palate, Bifid uvula, Few cafe-au-lait spo... OMIM:620330
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Facial asymmetry, Cryptorchidism, Pn... OMIM:601776
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Depressed nasal bridge, Dental ... OMIM:300990
Dend Syndrome
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... ORPHA:79134
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Toriello-Carey Syndrome
Neonatal respiratory distress, Micrognathia, Sparse eyebrow, Cryptorchidism, Cleft palate, Abnorm... ORPHA:3338
Deeah Syndrome
Neonatal respiratory distress, Overlapping fingers, Cryptorchidism, Narrow palate, Micropenis, Lo... OMIM:619004
Doors Syndrome
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, ... ORPHA:79500
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Carious teeth, Dyspnea, Premature graying of hair, Interstitial pneumonitis, Dermal atr... OMIM:127550
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Aplasia/Hypoplasia of the skin, Toe syndactyly, Micrognathia, Blue nevus, Skin... ORPHA:1556
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Gi... OMIM:607330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Apn... OMIM:619503
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Coarse facial features, Thickened ribs, Depressed nasal bridge, Pneumonia,... ORPHA:309282
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Okamoto Syndrome
Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... ORPHA:2729
Mucolipidosis Type Ii
Hip contracture, Respiratory failure requiring assisted ventilation, Recurrent respiratory infect... ORPHA:576
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Multiple Sulfatase Deficiency
Coarse facial features, Broad hallux, Anteverted nares, Broad thumb, Flat face OMIM:272200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Convex nasal ridge, Cleft soft palate, Micropenis, Genu valgum, Downturned corners of m... OMIM:619321
Gm1-Gangliosidosis, Type Ii
Coarse facial features, Coxa valga, Protruding tongue, Gingival overgrowth, Narrow mouth, Flat face OMIM:230600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Coarse facial features, Thick hair, Hyper... ORPHA:505248
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski... ORPHA:158684
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal facial shape, Hypospadias, Broad hallux, Cryptorchidism, Supernumerary ... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Aspiration, Abnormal facial shape, Syndactyly, Hyposp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Aspiration, Abnormal facial shape, Syndactyly, Hyposp... ORPHA:353277
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin ORPHA:2833
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Camptodactyl... OMIM:601803
Cadds
Short nose, Micrognathia ORPHA:369942
Adams-Oliver Syndrome 5
Syndactyly, Aplasia cutis congenita, Cutis marmorata telangiectatica congenita, Pulmonary arteria... OMIM:616028
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Cryptorchidism, High palate, Webbed neck, Short nose OMIM:609942
Odontoonychodermal Dysplasia
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o... OMIM:257980
Peroxisome Biogenesis Disorder 5A (Zellweger)
Round face, Hypospadias, Micrognathia, Metatarsus adductus, Cryptorchidism, Cleft palate, Epiphys... OMIM:614866
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, Synophrys, Short philtrum, High palate, Micropenis, Abnormal ... OMIM:619475
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Highly arched eye... OMIM:618460
Kindler Syndrome
Phimosis, Carious teeth, Spotty hypopigmentation, Gingivitis, Periodontitis, Dermal atrophy, Oral... OMIM:173650
Branchiooculofacial Syndrome
Proximal placement of thumb, Micrognathia, Postauricular pit, Premature graying of hair, Clinodac... OMIM:113620
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Hypospadias, Camptodactyly of finger, Choanal... ORPHA:1662
Williams Syndrome
Hypoplasia of penis, Narrow face, Micrognathia, Clinodactyly of the 5th finger, Microdontia, Hypo... ORPHA:904
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Epidermal nevus, Depressed nasal bridge, Supernumerary nipple, ... OMIM:600268
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypo... OMIM:261540
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... OMIM:227650
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Abnormality of hair texture, Synophrys, Dental malocclusion, Wide nasal bridge, Loc... ORPHA:73223
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Depressed nasal bridge, Anteverted nares, Sparse axilla... OMIM:181270
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig... ORPHA:3322
Baller-Gerold Syndrome
Micrognathia, Patellar hypoplasia, Choanal stenosis, High palate, Bifid uvula, Hypoplasia of the ... OMIM:218600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Oral mucosal blisters, Atrophic scars, Smoot... ORPHA:79396
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Molybdenum Cofactor Deficiency, Complementation Group B
Long philtrum, Short nose, Thick vermilion border, Long face OMIM:252160
Dyskeratosis Congenita, X-Linked
Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Carious teeth, Cryptorchidism, Premature grayi... OMIM:305000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Skin erosion, Narrow mouth, Atypical scarring of skin, Nevus, Aplasia cutis congen... ORPHA:89842
Acrocephalopolydactylous Dysplasia
Short nose, Pulmonary hypoplasia, Postaxial hand polydactyly, Extrapulmonary sequestrum OMIM:200995
Molybdenum Cofactor Deficiency, Complementation Group A
Long philtrum, Short nose, Thick vermilion border, Long face OMIM:252150
Down Syndrome
Sandal gap, Protruding tongue, Hypoplastic iliac wing, Pulmonary artery stenosis, Partial anomalo... OMIM:190685
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Subacute Cutaneous Lupus Erythematosus
Cheilitis, Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Alopecia, Pneumonia, Abnormal fingertip morphology,... ORPHA:79404
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnorma... ORPHA:221
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Short toe, Gingival overgrowt... OMIM:225410
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin ORPHA:33577
1P21.3 Microdeletion Syndrome
Wide mouth, Short nose, Micrognathia, Broad nasal tip ORPHA:293948
De Sanctis-Cacchione Syndrome
Hypermelanotic macule, Bilateral cryptorchidism, Gonadal hypoplasia, Dermal atrophy, Bilateral co... OMIM:278800
Penile Agenesis
Depressed nasal bridge, Cryptorchidism, Bilateral lung agenesis, Pulmonary hypoplasia, Absent pen... ORPHA:49
Bartter Syndrome Type 4
Triangular face ORPHA:89938
Acute Radiation Syndrome
Interstitial pneumonitis, Dermal atrophy, Skin ulcer ORPHA:454831
Williams-Beuren Syndrome
Hallux valgus, Peripheral pulmonary artery stenosis, Medial flaring of the eyebrow, Depressed nas... OMIM:194050
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Asymmetric, linear skin defects, Cleft palate, Hypoplasia of the uterus, ... OMIM:309801
Alström Syndrome
Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Gingivitis, Mi... ORPHA:64
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Bartter Syndrome, Type 2, Antenatal
Triangular face OMIM:241200
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Dermal atrophy OMIM:610651
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Dermal atrophy, Papule ORPHA:679
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79403
Slc39A8-Cdg
Cutaneous syndactyly of toes, Sudden episodic apnea, Flat face ORPHA:468699
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Delayed eruption of primary teeth OMIM:300952
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Oral mucosal blisters, Carious teeth, Atrophic scars, Nail dystrophy, Nar... ORPHA:79408
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Craniorachischisis
Bifid sternum ORPHA:63260
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Metaphyseal widening, Genu valgum, Male hypogonadism,... OMIM:219800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adamts2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adamts2.

No publications found that use IMPC mice or data for Adamts2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Adamts2tm263(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adamts2tm263(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adamts2tm263(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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