Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Short phalanx of finger, Micrognathia... OMIM:225410
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Micrognathia, Depressed nasal bridge, Retrognathia, Avascular necrosis of the capital... ORPHA:1901

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Congenital Heart Defects And Ectodermal Dysplasia
Premature loss of primary teeth, Microdontia, Widely spaced teeth, Sparse scalp hair, Depressed n... OMIM:617364
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Triangular face, Bulbous nose, Thick nasal alae, Coarse facial features, Prominent nose ORPHA:293707
Distal Trisomy 18Q
Triangular face, High palate, Deviation of finger, Cryptorchidism, Clinodactyly of the 5th finger... ORPHA:1716
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Hypopigmentation of hair, Depressed nasal ridge, Abnormal oral cavity morphology, R... ORPHA:1355
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face, Cryptorchidism, Hypodontia, Microdontia, Fine hair, Sparse hair ORPHA:1174
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Mental Retardation, X-Linked 91
High palate, Clinodactyly, Short 5th finger, Small hand, Low posterior hairline, Macrodontia, Abn... OMIM:300577
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Clubbing, Reduced FEV1/FVC ratio, Crackles, Ha... ORPHA:60033
Otodental Syndrome
Abnormality of the maxilla, Anteverted nares, Long philtrum, Gingival overgrowth, Pulp calcificat... ORPHA:2791
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Depressed nasal ridge, Hypodontia, Sparse body hair, Sparse hair... ORPHA:1810
17Q21.31 Microduplication Syndrome
Generalized hirsutism, Short philtrum, High palate, Toe syndactyly, Sandal gap, Clinodactyly of t... ORPHA:217340
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Kbg Syndrome
Triangular face, Webbed neck, Cervical ribs, Long philtrum, Underdeveloped nasal alae, Cutaneous ... ORPHA:2332
Silver-Russell Syndrome 3
Triangular face, Cryptorchidism, Melanocytic nevus, Retrognathia, Finger clinodactyly, Ambiguous ... OMIM:616489
48,Xxyy Syndrome
Infertility, Open bite, Cryptorchidism, Clinodactyly of the 5th finger, Hip dysplasia, Cleft pala... ORPHA:10
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Oligodontia, Triphalangeal thumb, Aplasia cutis congenita, Short thumb, Abnormality of the dentit... ORPHA:79499
19Q13.11 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Clinodactyly of the 5th finger, Aplasia cutis congenit... ORPHA:217346
Nicolaides-Baraitser Syndrome
Long philtrum, Cryptorchidism, Sandal gap, Everted lower lip vermilion, High, narrow palate, High... ORPHA:3051
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Skin ulcer, Chro... OMIM:604571
Chromosome 3Pter-P25 Deletion Syndrome
Triangular face, High palate, Broad nasal tip, Anteverted nares, Preauricular pit, Long philtrum,... OMIM:613792
Maxillonasal Dysplasia
Open bite, Depressed nasal ridge, Short columella, Flat face, Aplasia/Hypoplasia of the distal ph... ORPHA:1248
Acrogeria
Convex nasal ridge, Fine hair, Micrognathia, Small hand, Thin skin, Skin ulcer, Aplasia/Hypoplasi... ORPHA:2500
Mullegama-Klein-Martinez Syndrome
Triangular face, Short philtrum, Preauricular pit, Long philtrum, Bulbous nose, Clinodactyly of t... OMIM:301022
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Arthrogryposis, Distal, Type 2B2
Narrow mouth, Clinodactyly, Brachydactyly, Triangular face, Sandal gap, Overlapping fingers, Tape... OMIM:618435
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Bulbous nose, Aplasia/Hypoplasia of the eyebrow, Skin dimple, Wide nasal bridge, ... ORPHA:261304
Hypophosphatasia
Emphysema, Bowing of the long bones, Skin dimple over apex of long bone angulation, Skin dimple, ... ORPHA:436
Chromosome 15Q26-Qter Deletion Syndrome
Triangular face, Brachydactyly, Cryptorchidism, Micropenis, Wide nasal bridge, Micrognathia, Shor... OMIM:612626
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Kbg Syndrome
Triangular face, Clinodactyly, Cervical ribs, Long philtrum, Underdeveloped nasal alae, Cryptorch... OMIM:148050
Focal Facial Dermal Dysplasia Type I
Bulbous nose, Sparse lateral eyebrow, Absent eyelashes, Aplasia cutis congenita, Thick upper lip ... ORPHA:79133
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly, Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, High palate, Flattened epiphysis, Bifid uvula, Webbed neck, Delay... OMIM:612350
Glass Syndrome
Narrow mouth, High palate, Long nose, Bulbous nose, Conical tooth, Oligodontia, Narrow nose, Spar... OMIM:612313
Rapp-Hodgkin Syndrome
Bifid uvula, Underdeveloped nasal alae, Narrow nose, Microdontia, Fine hair, Cleft palate, Small,... OMIM:129400
Intellectual Developmental Disorder With Neuropsychiatric Features
Triangular face, Highly arched eyebrow, Depressed nasal bridge, Smooth philtrum, Thin vermilion b... OMIM:617532
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Pneumonia, Chronic bronchitis, Depressed nasal bridge, Retrognathia, Round face, Ant... OMIM:614069
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Nicolaides-Baraitser Syndrome
Triangular face, Brachydactyly, Anteverted nares, Long philtrum, Cryptorchidism, Sandal gap, Shor... OMIM:601358
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Atypical scarring of skin, Long toe, Abnormality of primary teeth, Cryptorchidism, ... ORPHA:75496
Silver-Russell Syndrome 2
Triangular face, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Micrognathia, Thin skin, Dow... OMIM:618905
Dermoodontodysplasia
Hypodontia, Trichodysplasia, Thin skin OMIM:125640
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Triangular face, Brittle hair, Cleft upper lip, Hypodontia, Microdontia, Abnormality of the philt... OMIM:225060
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Arthrogryposis, Distal, Type 2B1
Narrow mouth, High palate, Triangular face, Webbed neck, Calcaneovalgus deformity, Long philtrum,... OMIM:601680
Dermoodontodysplasia
Microdontia, Sparse body hair, Trichodysplasia, Mandibular prognathia, Sparse scalp hair, Tooth a... ORPHA:1660
Pseudoprogeria Syndrome
Absent eyelashes, Sparse eyebrow, Convex nasal ridge, Sparse hair, Absent eyebrow, Alopecia, Bird... ORPHA:2985
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Granddad Syndrome
Triangular face, Underdeveloped nasal alae, Abnormal hair morphology, Thin vermilion border, Prom... OMIM:138920
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Triangular face, Long toe, Cutaneous syndactyly, Cryptorchidism, Overlapping fingers, Wide nasal ... OMIM:618316
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Triangular face, Short philtrum, Long eyelashes, Clinodactyly of the 5th finger, Narrow nose, Fin... ORPHA:231137
Mulibrey Nanism
Triangular face, Hypoplastic frontal sinuses, Enamel hypoplasia, Thickened cortex of long bones, ... OMIM:253250
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger, Hypodontia, Microdontia, Everte... ORPHA:1515
Trichodentoosseous Syndrome
Microdontia, Abnormal hair morphology, Widely spaced teeth, Taurodontia OMIM:190320
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Prolidase Deficiency
Generalized hirsutism, Abnormal hip bone morphology, Depressed nasal ridge, Carious teeth, Papule... ORPHA:742
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Arthrochalasia Ehlers-Danlos Syndrome
Coxa valga, Micrognathia, Depressed nasal bridge, Retrognathia, Avascular necrosis of the capital... ORPHA:1899
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
48,Xxxy Syndrome
Infertility, Open bite, Cryptorchidism, Clinodactyly of the 5th finger, Mandibular prognathia, Cl... ORPHA:96263
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Short philtrum, Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Tr... OMIM:201170
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Stuve-Wiedemann Syndrome 1
Smooth tongue, Micrognathia, Short tibia, Wide nasal base, Short nose, Bowing of the long bones, ... OMIM:601559
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Triangular face, High palate, Clinodactyly of the 5th finger, Abnormal external genitalia, Polyda... ORPHA:231140
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
49,Xxxxy Syndrome
Infertility, Open bite, Cryptorchidism, Clinodactyly of the 5th finger, Mandibular prognathia, Cl... ORPHA:96264
Growth Factors, Combined Defect Of
Narrow mouth, Dermal atrophy, Convex nasal ridge, Micrognathia, Thin skin OMIM:233805
Acromicric Dysplasia
Narrow mouth, Brachydactyly, Long philtrum, Bulbous nose, Abnormality of epiphysis morphology, Sh... ORPHA:969
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Triangular face, Clinodactyly of the 5th finger, External genital hypoplasia, Cleft palate, Facia... ORPHA:231147
Russell-Silver Syndrome, X-Linked
Triangular face, Cafe-au-lait spot OMIM:312780
Young Syndrome
Obstructive azoospermia, Decreased fertility, Recurrent sinopulmonary infections, Recurrent bronc... ORPHA:3471
Emery-Nelson Syndrome
Brachydactyly, High palate, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Lon... ORPHA:1927
3-Hydroxyisobutyric Aciduria
Triangular face, Hypogonadotropic hypogonadism, Long philtrum, Micrognathia ORPHA:939
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Sparse lateral eyebro... ORPHA:261120
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Small hand, Thin upper l... OMIM:170390
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Thick eyebrow, Everted lower lip ... ORPHA:2616
Birt-Hogg-Dubé Syndrome
Emphysema, Papule, Pneumothorax, Pulmonary sequestration, Skin tags ORPHA:122
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Long nose, Cryptorchidism, Narrow nose, Carious teeth, Narrow maxilla, Arachnodactyl... OMIM:617602
Short Stature, Dauber-Argente Type
Triangular face, Delayed eruption of teeth, Long toe, Decreased fibular diameter, Arachnodactyly,... OMIM:619489
Three M Syndrome 1
Triangular face, Slender long bone, Long philtrum, Short ribs, Clinodactyly of the 5th finger, Th... OMIM:273750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Triangular face, Cryptorchidism, Slender nose, Micrognathia, Smooth philtrum, Thin upper lip verm... OMIM:615419
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Long nose, Triangular face, Brachydactyly, Brittle hair, Short palm, Ename... OMIM:619184
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Short Syndrome
Triangular face, Clinodactyly, Delayed eruption of teeth, Underdeveloped nasal alae, Hypodontia, ... OMIM:269880
Myopathy, Congenital, Progressive, With Scoliosis
Triangular face, High palate, Depressed nasal ridge, Cryptorchidism, Micrognathia, Respiratory in... OMIM:618578
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Cryptorchidism, Widely spaced teeth, Macroglossia, Mandibular prognathia, Short nos... ORPHA:369891
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Abnormality of ... ORPHA:2496
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Trichorhinophalangeal Syndrome Type 1 And 3
Triangular face, High palate, Leukonychia, Shortening of all phalanges of fingers, Long philtrum,... ORPHA:77258
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Congenital giant melanocytic nevus, Long philtrum, Open mout... OMIM:137550
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mandibu... ORPHA:1832
Sarcoidosis, Susceptibility To, 2
Emphysema, Clubbing, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage f... OMIM:612387
Ehlers-Danlos Syndrome, Periodontal Type, 1
Periodontitis, Gingival bleeding, Arachnodactyly, Alveolar bone loss around teeth, Premature loss... OMIM:130080
Silver-Russell Syndrome Due To A Point Mutation
Triangular face, Dysmenorrhea, Asthma, Cryptorchidism, Clinodactyly of the 5th finger, Short 5th ... ORPHA:397590
Familial Male-Limited Precocious Puberty
Abnormal hair morphology, Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infe... ORPHA:3000
Peroxisome Biogenesis Disorder 13A (Zellweger)
Triangular face, Abnormal facial shape, Abnormal nasal bridge morphology, Micrognathia OMIM:614887
Chung-Jansen Syndrome
Short philtrum, High palate, Anteverted nares, Clinodactyly, Long philtrum, Cryptorchidism, Thick... OMIM:617991
Short Stature, Brussels Type
Triangular face, Abnormal facial shape, Microretrognathia, Delayed epiphyseal ossification ORPHA:2867
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Fetal Encasement Syndrome
Upper limb undergrowth, Bilateral trilobed lungs, Thin skin, Lower limb undergrowth OMIM:613630
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Triangular face, Abnormal tongue physiology, Abnormal facial shape, Po... ORPHA:544254
Legius Syndrome
Triangular face, High palate, Micrognathia, High, narrow palate, Cafe-au-lait spot, Low posterior... OMIM:611431
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hip bone morphology, Irregular menstruation, Polycystic ovaries, Abnormal penis morpholo... ORPHA:457059
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Meier-Gorlin Syndrome 1
Genu varum, Cryptorchidism, Clinodactyly of the 5th finger, Microdontia, Micrognathia, Small hand... OMIM:224690
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Flat face, Narrow face, Aplasia/Hypoplasia involving the nos... ORPHA:1529
Cree Mental Retardation Syndrome
Triangular face, Webbed neck, Cleft soft palate, Cryptorchidism, Rocker bottom foot, Micrognathia... OMIM:606851
Three M Syndrome 2
Triangular face, High palate, Clinodactyly, Anteverted nares, Prominent calcaneus, Long philtrum,... OMIM:612921
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Cough, Slow-growing hair, Trichor... ORPHA:238468
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Broad nasal tip, Clinodactyly, Long philtrum, Cone-shaped epiphysis, Oligospermia, Mandibular pro... OMIM:614813
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Brachydactyly, Flat face, Short metacarpal, Wide nasal bridge, Micrognathia, Short ... OMIM:614078
Al Kaissi Syndrome
Triangular face, Broad nasal tip, Clinodactyly, Sacral dimple, Long philtrum, Thin upper lip verm... OMIM:617694
Marshall-Smith Syndrome
Bowing of the long bones, Generalized hirsutism, Open mouth, Choanal atresia, Retrognathia, Thin ... ORPHA:561
Short Stature Syndrome, Brussels Type
Triangular face, Microretrognathia, Delayed epiphyseal ossification OMIM:601350
Adult Syndrome
Toe syndactyly, Finger syndactyly, Absent nipple, Sparse scalp hair, Wide nasal bridge, Fine hair... ORPHA:978
Adenylosuccinate Lyase Deficiency
Long philtrum, Abnormal facial shape, Smooth philtrum, Thin upper lip vermilion, Anteverted nares... ORPHA:46
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Underdeveloped nasal alae, Microdontia, Everted lower lip vermilion, Short nose, Ab... OMIM:305100
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Long phil... OMIM:616331
Leukodystrophy, Hypomyelinating, 10
Triangular face, Long philtrum, Bulbous nose, Arachnodactyly, Abnormal facial shape, Malar flatte... OMIM:616420
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Large face, Depressed nasal ridge, Flat face, Deviation of finger, Short metacarpa... ORPHA:2831
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
20Q11.2 Microduplication Syndrome
Triangular face, Sacral dimple, Short palm, Flat face, Cryptorchidism, Tented philtrum, Micropeni... ORPHA:363659
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Acrodysostosis
Abnormality of the ulna, Irregular menstruation, Open bite, Cryptorchidism, Cone-shaped epiphysis... ORPHA:950
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Narrow face, Short phalanx of finger, Screwdrive... OMIM:302350
Arthrogryposis, Distal, Type 2B3
Triangular face, Overlapping fingers, Camptodactyly, Hallux valgus OMIM:618436
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Clinodactyly, Recurrent upper respiratory tract infections, Pneumonia, Micropenis, R... OMIM:300209
Mulchandani-Bhoj-Conlin Syndrome
Triangular face, Clinodactyly, 2-3 toe syndactyly, Retrognathia, Hypermelanotic macule, Cafe-au-l... OMIM:617352
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Polycystic ovaries, Dysmenorrhea, Secondary amenorrhea, Xanthomatosis, Rou... ORPHA:2348
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Sandal gap, Abnormality of fibula morphology, Microdontia, Aplasia/Hypoplasia of ... ORPHA:1812
Cerebellofaciodental Syndrome
Tapered finger, Sparse eyebrow, Fine hair, Sparse hair, Slender long bone, Dental malocclusion, T... OMIM:616202
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Thick eyebrow, Everted lower lip vermilion, Thick hair, Mandibular prognathia, Sy... ORPHA:2429
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow face, Abnormality of dental eruption, Highly arched eyebrow, Mandibular prognat... ORPHA:1327
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Triangular face, Genu varum, Abnormal hip bone morphology, Carious teeth, Convex na... ORPHA:1110
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Primary amenorrhea, Camptodactyly of finger, Pili torti, Thin eyebrow, Abnormality of nail color,... ORPHA:3220
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Thin skin, Milia ORPHA:1658
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Narrow nose, Osteolytic defects of the distal phalanges ... ORPHA:2457
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Short femoral neck, Broad femoral neck, Tape... ORPHA:157965
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, High palate, Triangular face, Clinodactyly, Webbed neck, Long philtrum, Sandal gap,... OMIM:270450
Focal Dermal Hypoplasia
Dermal atrophy, Open bite, Coarse metaphyseal trabecularization, Aplasia/Hypoplasia of the lungs,... ORPHA:2092
Cutis Laxa-Marfanoid Syndrome
Emphysema, Arachnodactyly, Hip dislocation ORPHA:171719
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short columella, Dental malocclusion, Sho... OMIM:155050
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Triangular face, Clinodactyly, Bulbous nose, Cryptorchidism, Open mouth, Everted lower lip vermil... OMIM:616789
Kaufman Oculocerebrofacial Syndrome
Narrow face, Clinodactyly of the 5th finger, Micrognathia, Thin upper lip vermilion, Diastema, Cl... OMIM:244450
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Triangular face, Long philtrum, Cryptorchidism, Micrognathia, Depresse... OMIM:613457
Meier-Gorlin Syndrome 4
Narrow mouth, Emphysema, Cryptorchidism, Thick lower lip vermilion, Micrognathia, Hypoplasia of t... OMIM:613804
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Chromosome 10Q26 Deletion Syndrome
Triangular face, Clinodactyly, Toe syndactyly, Small scrotum, Webbed neck, Long philtrum, Cryptor... OMIM:609625
Silver-Russell Syndrome 1
Triangular face, Craniofacial disproportion, Clinodactyly of the 5th finger, Micrognathia, Testic... OMIM:180860
Grant Syndrome
Bowing of the long bones, Large face, Abnormal palate morphology, Abnormality of pelvic girdle bo... ORPHA:2097
X-Linked Mandibulofacial Dysostosis
Triangular face, High palate, Webbed neck, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Mic... ORPHA:1131
17P11.2 Microduplication Syndrome
Triangular face, Open bite, Sleep apnea, Micrognathia, Abnormality of dental morphology, Wide mouth ORPHA:1713
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Deviation of finger, Short nose, Anteverted nares, Low posterior hair... ORPHA:1450
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Long philtrum, Open bite, Coarse hair, Clinodactyly of the 5th finger, Everted lowe... ORPHA:1974
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Short phalanx of finger, Micrognathia... OMIM:225410
Kosaki Overgrowth Syndrome
Thin upper lip vermilion, Thin skin, Wide nasal bridge OMIM:616592
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Bowing of the long bones, Flat face, Cryptorchidism, Wide nasal bridge, Micrognathi... OMIM:224410
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, Abnormal fingertip morphology, Dermal atrophy, Acroosteolysis of distal phalanges (... ORPHA:90154
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Webbed neck, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Split hand, Conve... ORPHA:2145
Nabais Sa-De Vries Syndrome, Type 2
Triangular face, High palate, Anteverted nares, Bulbous nose, Clinodactyly of the 5th finger, Sle... OMIM:618829
Meier-Gorlin Syndrome 6
Emphysema, Hypoplastic labia majora, Underdeveloped nasal alae, Depressed nasal ridge, Cryptorchi... OMIM:616835
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Triangular face, Abnormality of epiphysis morphology, Carpal osteolysis, Metacarpal osteolysis, W... ORPHA:2774
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Cryptorchidism, Short metacarpal, Cone-shaped epiphysis, Short phalanx ... OMIM:614613
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Thin ribs, Tibial bowing, Convex nasal ridge, Crump... OMIM:166210
Ellis Van Creveld Syndrome
Foot polydactyly, Abnormal morphology of female internal genitalia, Cryptorchidism, Microdontia, ... ORPHA:289
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Aplasia cutis congenita, Carious teeth, Atrophic scars, Nail dystrophy, Mi... ORPHA:79411
Perlman Syndrome
Broad alveolar ridges, Cryptorchidism, Open mouth, Wide nasal bridge, Hypoplasia of penis, Microg... ORPHA:2849
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Highly arched eyebrow, Depressed nasal bridge, Smooth philtrum, Thin upper lip ver... ORPHA:438178
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Tapered finger, Short phalanx of finger, Long fingers, Malar flattening, Hip disloc... OMIM:613458
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Absent eyelashes, Sparse hair, Absent eyebrow, Alopecia, Abnormality of the dentition, Thin skin,... OMIM:607823
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Aplasia/Hypoplasia of the skin, Thin skin ORPHA:743
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Hypopigmented skin patches, Hypoplasia of ... ORPHA:1295
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Rhiny
Anteverted nares, Thin vermilion border, Short nose OMIM:180360
Pierpont Syndrome
Broad nasal tip, Broad face, Short palm, Cryptorchidism, Micropenis, Everted lower lip vermilion,... OMIM:602342
Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Hallux valgus, Metaphyseal widening, Hip dysplasia, ... ORPHA:536471
Smith-Magenis Syndrome
Brachydactyly, Short philtrum, Large face, Toe syndactyly, Cleft upper lip, Open mouth, Clinodact... ORPHA:819
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Flat face, Malar flattening, Short nose OMIM:122880
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly, Dermal atrophy OMIM:133690
Nizon-Isidor Syndrome
Narrow mouth, Short philtrum, Triangular face, Bulbous nose, Open mouth, Everted lower lip vermil... OMIM:618872
Young Syndrome
Azoospermia, Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recu... OMIM:279000
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Bilateral triphalangeal thumbs, Open mouth, Microdontia, Short distal phalanx of to... OMIM:619356
Meier-Gorlin Syndrome 3
Genu varum, Tracheomalacia, Cryptorchidism, Micrognathia, Aplasia/Hypoplasia of the patella, Clit... OMIM:613803
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Gingival fibromatosis, Papule, Subcutaneous nodule, Abnormal diaphysis ... ORPHA:2028
Potocki-Shaffer Syndrome
Brachydactyly, Short philtrum, 2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Sparse... OMIM:601224
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Open bite, Trismus, Abnormal pigmentation of the oral mucosa, Abnor... ORPHA:2907
Progressive Hemifacial Atrophy
Facial asymmetry, Aplasia/Hypoplasia of the skin, Abnormal mandible morphology, Micrognathia ORPHA:1214
Alazami Syndrome
Triangular face, Short philtrum, Thick vermilion border, Slender long bone, Sleep apnea, Widely s... ORPHA:319671
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Distal 17P13.1 Microdeletion Syndrome
Triangular face, High palate, Arachnodactyly, Prominent nasal bridge, Increased overbite, Retrogn... ORPHA:319171
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Sandal gap, Aplasia cutis congenita, Highly arched eyebrow, Pulmonary arterial hyp... OMIM:300887
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Anetoderma, Dermal atrophy, Metaphyseal dysplasia OMIM:250450
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Triangular face, Dental crowding, Hirsutism, Synophrys OMIM:619264
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5t... ORPHA:2370
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Tachypnea, Micrognathia, Hamartoma of tongue... ORPHA:2751
Clark-Baraitser Syndrome
High palate, Clinodactyly, Long philtrum, Sandal gap, Depressed nasal bridge, Abnormal facial sha... OMIM:617752
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Adult Syndrome
Fair hair, Toe syndactyly, Dermal atrophy, Absent nipple, Oligodontia, Hypodontia, Microdontia, S... OMIM:103285
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Webbed neck, Abnormal palate morphology, Anteverted nares, Cryptorchidism, Aplasia... ORPHA:2701
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Silver-Russell Syndrome 4
Triangular face OMIM:618907
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Partington Syndrome
Triangular face, Camptodactyly OMIM:309510
Chopra-Amiel-Gordon Syndrome
Pierre-Robin sequence, Short philtrum, Triangular face, Flared nostrils, Thick nasal alae, Cleft ... OMIM:619504
Xq12-Q13.3 Duplication Syndrome
Triangular face, Recurrent upper respiratory tract infections, 2-3 toe syndactyly, Cryptorchidism... ORPHA:314389
Potocki-Lupski Syndrome
Triangular face, High palate, Sleep apnea, Micrognathia, Dental crowding, Smooth philtrum, Mandib... OMIM:610883
Wiedemann-Steiner Syndrome
High palate, Sacral dimple, Long philtrum, Thin upper lip vermilion, Flat face, Long eyelashes, C... OMIM:605130
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Flat face, Sleep apnea, Congenital hip dislocation, Widely-spaced maxillary cent... OMIM:619719
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Taurodontism
Taurodontia OMIM:272700
Pallister-Hall-Like Syndrome
Micropenis, Short ribs, Micrognathia, Microglossia, Depressed nasal bridge, Short nose, Hip dislo... OMIM:241800
Silver-Russell Syndrome 5
Triangular face OMIM:618908
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Flat face, Cryptorchidism, Polydactyly, Depressed nasal bridge, Hypospadias, ... OMIM:616910
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Non-Distal Trisomy 10Q
High palate, Cryptorchidism, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Depre... ORPHA:1695
Edinburgh Malformation Syndrome
Narrow mouth, Slender finger, Generalized hirsutism, Anteverted nares, Micrognathia, Choanal atre... ORPHA:1895
Blepharophimosis-Impaired Intellectual Development Syndrome
Underdeveloped nasal alae, Cryptorchidism, Clinodactyly of the 5th finger, Thick eyebrow, Microdo... OMIM:619293
Osteogenesis Imperfecta, Type V
Triangular face, Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, ... OMIM:610967
Pde4D Haploinsufficiency Syndrome
Long philtrum, Cryptorchidism, Cone-shaped epiphysis, Micrognathia, Mandibular prognathia, Short ... ORPHA:439822
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Finger syndactyly, Long eyelashes, Thick eyebrow, Abnormal hair pattern, M... ORPHA:1514
Multicentric Carpotarsal Osteolysis Syndrome
Triangular face, Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, H... OMIM:166300
Gapo Syndrome
Long philtrum, Everted lower lip vermilion, Micrognathia, Oligospermia, Mandibular prognathia, Sk... ORPHA:2067
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thick eyebrow, Mandibular prognathia, Sho... OMIM:619636
Autosomal Dominant Omodysplasia
Long philtrum, Short palm, Cryptorchidism, Hypoplasia of penis, Micrognathia, Depressed nasal bri... ORPHA:93328
Oculodentodigital Dysplasia
Clinodactyly, Brittle hair, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Fine hair,... ORPHA:2710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Triangular face, Short philtrum, Bulbous nose, Open mouth, Tapered finger, Prominent nasal bridge... OMIM:616801
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Triangular face, Short philtrum, Tapered distal phalanges of finger, Tented upper lip vermilion, ... ORPHA:371364
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Cryptorchidism, Choanal stenosis, Diaphyseal thickening, Sparse hair, Micrognathia, Choa... OMIM:151050
Marshall-Smith Syndrome
Brittle hair, Clinodactyly of the 5th finger, Thick eyebrow, Microdontia, Highly arched eyebrow, ... OMIM:602535
Short Syndrome
Triangular face, Brachydactyly, Short palm, Microdontia, Wide nasal bridge, Abnormal mandible mor... ORPHA:3163
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, High palate, Clinodactyly, Bulbous nose, Flat face, Open mouth, Micrognathia, Camp... OMIM:613604
Cutis Laxa, Autosomal Recessive, Type Iib
Triangular face, Narrow nasal ridge, Bowing of the long bones, Bulbous nose, Congenital hip dislo... OMIM:612940
Peroxisome Biogenesis Disorder 11A (Zellweger)
Triangular face, Large face, Depressed nasal bridge, Apnea, Anteverted nares OMIM:614883
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Square pelvis bone, Short palm, ... ORPHA:166272
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Three M Syndrome 3
Triangular face, Thick vermilion border, Prominent calcaneus, Long philtrum, Clinodactyly of the ... OMIM:614205
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Triangular face, Brachydactyly, Generalized hirsutism, Symphalangism affecting the phalanges of t... ORPHA:1292
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchiectasis, Ciliary dyskine... OMIM:612444
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplasia... ORPHA:217385
Faciodigitogenital Syndrome, Autosomal Recessive
Triangular face, High palate, Widow's peak, Anteverted nares, Trismus, Cryptorchidism, Clinodacty... OMIM:227330
Achondrogenesis Type 1A
Long philtrum, Aplasia/Hypoplasia of the lungs, Flat face, Short palm, Micrognathia, Multiple rib... ORPHA:93299
Popov-Chang syndrome
Triangular face, Long nose, Long philtrum, Coarse hair, Clinodactyly of the 5th finger, Depressed... OMIM:618428
Oculodentodigital Dysplasia
Clinodactyly, Underdeveloped nasal alae, Microdontia, Fine hair, Slow-growing hair, Cleft palate,... OMIM:164200
16Q24.3 Microdeletion Syndrome
Triangular face, High palate, Solitary median maxillary central incisor, Long philtrum, Cryptorch... ORPHA:261250
Achondrogenesis Type 1B
Long philtrum, Aplasia/Hypoplasia of the lungs, Flat face, Micrognathia, Abnormal rib morphology,... ORPHA:93298
20Q13.33 Microdeletion Syndrome
Triangular face, Sacral dimple, Decreased scrotal rugation, Bulbous nose, Abnormality of limb bon... ORPHA:261311
Chromosome 19Q13.11 Deletion Syndrome, Distal
Underdeveloped nasal alae, Cryptorchidism, Clinodactyly of the 5th finger, Micrognathia, Retrogna... OMIM:613026
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atrophic, patchy alopecia, Atypical scarring of skin, Enamel hypoplasia, Scar... ORPHA:251393
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, Aplasia cutis congenita, Sp... ORPHA:79402
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Sacral dimple, Polycystic ovaries, Secondary amenorrhea, Aplasia/H... ORPHA:1643
3Q27.3 Microdeletion Syndrome
Narrow mouth, Short philtrum, Triangular face, Slender nose, Convex nasal ridge, Arachnodactyly, ... ORPHA:397695
Silver-Russell Syndrome
Triangular face, Cryptorchidism, Abnormal vagina morphology, Sandal gap, Clinodactyly of the 5th ... ORPHA:813
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Narrow nasal ridge, Generalized hirsutism, Polycystic ovaries, Dysmeno... ORPHA:280365
Ohdo Syndrome
Narrow mouth, Anteverted nares, Small scrotum, Long philtrum, Cryptorchidism, Clinodactyly of the... OMIM:249620
Al-Raqad Syndrome
Narrow mouth, Brachydactyly, Flat face, Sandal gap, Thin upper lip vermilion, Short nose OMIM:616459
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Dystrophic toenail, Erythematous plaque, Dystrophic fingernails, Thin skin, Milia ORPHA:158673
Mosaic Variegated Aneuploidy Syndrome 2
Narrow mouth, Triangular face, Clinodactyly, Bulbous nose, Clinodactyly of the 5th finger, Sleep ... OMIM:614114
Eec Syndrome
Coarse hair, Thick eyebrow, Microdontia, Fine hair, Slow-growing hair, Cleft palate, Carious teet... ORPHA:1896
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular face, Penile hypospadias, Slender long bone, Thin ribs, Triangular shaped distal phala... ORPHA:73230
12Q14 Microdeletion Syndrome
Triangular face, Clinodactyly of the 5th finger, Hypodontia, Thick eyebrow, Micrognathia, Subcuta... ORPHA:94063
Keutel Syndrome
Emphysema, Sinusitis, Airway obstruction, Pulmonary artery hypoplasia, Epiphyseal stippling, Deep... OMIM:245150
Ruijs-Aalfs Syndrome
Triangular face, Clinodactyly, Bulbous nose, Micrognathia, Down-sloping shoulders, Prominent nasa... OMIM:616200
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Chronic b... OMIM:614874
Blepharocheilodontic Syndrome 1
Clinodactyly, Cleft upper lip, Flat face, Conical tooth, Cutaneous syndactyly, Hypodontia, Choana... OMIM:119580
Hennekam-Beemer Syndrome
Triangular face, High palate, Long nose, Pneumonia, Camptodactyly of finger, Clinodactyly of the ... ORPHA:2135
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO, Genu valgum OMIM:618913
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Dermal atrophy, Bulbous nose, Pili torti, Short 4th metacarpal, Oligodontia, U... ORPHA:1787
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Abnormal thumb morphology, Abnormal palate morphology, Hypopigmentation of hair, Cr... ORPHA:2719
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Short philtrum, Hypopigmented skin patches, Depressed nasal ridge... ORPHA:1807
Simosa Craniofacial Syndrome
Narrow mouth, Long nose, Long philtrum, Underdeveloped nasal alae, Flat face, Abnormal hair morph... OMIM:182150
Orofaciodigital Syndrome Xv
Flat face, Lobulated tongue, Wide nasal bridge, Broad hallux, Postaxial polydactyly, Anteverted n... OMIM:617127
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Short sternum, Thick lower lip vermilion, ... OMIM:157980
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Triangular face, Long nose, Open mouth, Long face, Abnormal facial shape ORPHA:85329
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Cleft palate, Hip dis... OMIM:311300
Acrofacial Dysostosis, Catania Type
Brachydactyly, Preauricular pit, Webbed neck, Abnormal palate morphology, Finger syndactyly, Shor... ORPHA:1786
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Recurrent pneumonia, Abnormal palate morphology, Micrognathia, Camptodactyly of fin... ORPHA:1495
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Secondary amenorrhea... ORPHA:79083
Global Developmental Delay With Speech And Behavioral Abnormalities
Triangular face, Cryptorchidism, Supernumerary nipple, Micrognathia, Precocious puberty, Thin upp... OMIM:619243
Partington Syndrome
Triangular face, Macroorchidism ORPHA:94083
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Tracheomalacia, Microdontia, Micrognathia, Hallux valgus, Metaphyseal widening, De... ORPHA:536467
Partial Deletion Of The Short Arm Of Chromosome 7
Clinodactyly of the 5th finger, Thick eyebrow, Retrognathia, Bilateral cryptorchidism, Small hand... ORPHA:261911
Noonan Syndrome 14
Triangular face, Thick vermilion border, Clinodactyly, Webbed neck, Long philtrum, Cryptorchidism... OMIM:619745
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Arthrogryposis, Distal, Type 5
Triangular face, High palate, Clinodactyly, Restrictive ventilatory defect, Arachnodactyly, Conge... OMIM:108145
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Absent inner ... OMIM:618801
Blepharocheilodontic Syndrome 2
Flat face, Cutaneous syndactyly, Conical tooth, Distichiasis, Tooth agenesis, Facial asymmetry OMIM:617681
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Intellectual Developmental Disorder, X-Linked 30
High palate, Drooling, Flat face, Open mouth, Thick upper lip vermilion, Prominent nasal bridge, ... OMIM:300558
Silver-Russell Syndrome Due To 11P15 Microduplication
Triangular face, Clinodactyly of the 5th finger, Facial asymmetry ORPHA:231144
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Delayed eruption of teeth, Flat face... ORPHA:1458
Cutis Laxa, Autosomal Recessive, Type Iiib
Narrow nasal ridge, Cryptorchidism, Fine hair, Sparse hair, Thin skin, Thin vermilion border OMIM:614438
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Cryptorchidism, Narrow face, Clinodactyly of the 5th... ORPHA:251028
Hand And Foot Deformity With Flat Facies
Malar flattening, Metacarpophalangeal joint contracture, Contractures of the interphalangeal join... OMIM:139750
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Atypical scarring of skin, Striae distensae OMIM:225310
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Micrognathia, Metaphyseal cupping, Malar ... OMIM:614524
Teebi Hypertelorism Syndrome 1
Preauricular pit, Widow's peak, Long philtrum, Hydrocele testis, Shawl scrotum, Hypopigmented mac... OMIM:145420
Osteogenesis Imperfecta, Type Iii
Triangular face, Thin ribs, Tibial bowing, Micrognathia, Pulmonary arterial hypertension, Protrus... OMIM:259420
Atkin-Flaitz Syndrome
Broad nasal tip, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Macroorchidi... ORPHA:1193
Osteogenesis Imperfecta, Type Xiii
Triangular face, Long philtrum, Long eyelashes, Dislocated radial head, Arachnodactyly, Thin verm... OMIM:614856
Loeys-Dietz Syndrome 4
Emphysema, High palate, Bifid uvula, Broad uvula, Striae distensae, High, narrow palate, Protrusi... OMIM:614816
48,Xyyy Syndrome
High palate, Recurrent upper respiratory tract infections, Long philtrum, Enamel hypoplasia, Asth... ORPHA:99329
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flat face, Micropenis, Decreased fibular diameter, Unilateral cleft lip, Short ribs,... OMIM:616897
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Sandal gap, Broad femoral neck, Short 1st meta... OMIM:251450
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Epiphyseal stippling, Short distal phalanx of finger, Depressed nasal bridge, Short nasa... OMIM:302950
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Broad nasal tip, Cryptorchidism, Microdontia, Cleft palate, Rectovaginal fistula, Cleft upper lip... OMIM:129900
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Triangular face, Arachnodactyly, Congenital finger flexion contractures, Deviation of finger ORPHA:1154
Ablepharon Macrostomia Syndrome
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Absent eyel... ORPHA:920
Schimke Immuno-Osseous Dysplasia
Broad nasal tip, Wide capital femoral epiphyses, Shallow acetabular fossae, Hypodontia, Microdont... ORPHA:1830
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Thin vermilion border, Downturned corners of ... ORPHA:1906
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Broad nasal tip, Clinodactyly, Long philtrum, Long eyelashes, Wide nasal bridge, M... OMIM:618529
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Long philtrum, Narrow face, Small face, Fine hair, Micrognathia, Thin upper lip ver... ORPHA:391408
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Anterior rib cupping, Flat face, Undulate ribs, Micrognat... ORPHA:1801
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Restrictive ventilatory defect, 2-3 toe syndactyly, Tapered finger, Wide nasal bridg... OMIM:218000
Distal Monosomy 10Q
Widow's peak, Clinodactyly, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Micrognat... ORPHA:96148
Andersen-Tawil Syndrome
Triangular face, High palate, 2-3 toe syndactyly, Bulbous nose, Abnormality of the dentition, Oli... ORPHA:37553
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Calcaneovalgus deformity, Bulbous nose, Sandal gap, Thick eyebrow, Dyspnea, Long fin... ORPHA:230851
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Long philtrum, Cryptorchidism, Dislocated radial head, Wide nasal bridge, Short th... ORPHA:401935
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Epiphyseal stippling, Micrognathia, Flared metaphysis, Depressed nasal bridge, Malar f... OMIM:215100
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial foot polydactyly, Cryptorch... ORPHA:1988
Netherton Syndrome
Emphysema, Abnormal hair morphology, Asthma, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Rec... ORPHA:634
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Aspiration, Cryptorchidism, Clinodactyly of the 5th finger, Microdontia, Micrognath... ORPHA:96182
Momo Syndrome
High palate, Congenital pseudoarthrosis of the clavicle, Long philtrum, Delayed eruption of teeth... ORPHA:2563
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Drooling, Open mouth, Malar flattening, Retrognathia, Short nose OMIM:613670
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Calcaneovalgus deformity, Atrophic scars OMIM:225320
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:616430
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Recurrent pneumonia, Infertility, Shawl scrotum, Wide nasal bridge, Micrognathia, Recu... OMIM:219721
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Long philtrum, Long eyelashes, Cryptorchidism, Wide nasal bridge, Micrognathia, Hyp... OMIM:618577
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Long philtrum, Tracheomalacia, Sandal gap, Wide nasal bridge, Micrognathia, Malar flat... OMIM:613177
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine prolapse, Metacarpophalangeal joint hyperextensibility, Pulmonary bulla, ... OMIM:130050
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:614935
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Broad nasal tip, Short palm, Thick lower lip vermilion, Tapered... OMIM:300602
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Skin ulcer, Coarse metaphyseal trabecularizatio... ORPHA:1775
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short ribs, Deep philtrum, Tachypnea, Squared iliac bones, Metaphyseal cuppin... OMIM:613320
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Recurrent respiratory infections, Inspiratory stridor, Smal... OMIM:618618
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Nail dystrophy, Milia, At... OMIM:226700
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Narrow mouth, Brachydactyly, Coxa valga, Flat face, Short phalanx of finger, Round face, Genu val... OMIM:132450
Nablus Mask-Like Facial Syndrome
Clinodactyly, Long philtrum, Cryptorchidism, Tapered finger, Highly arched eyebrow, Retrognathia,... OMIM:608156
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Aplasia/hypoplasia involving bones of the extremities, Hy... ORPHA:93346
Meier-Gorlin Syndrome 5
Triangular face, Clinodactyly, Long philtrum, Cryptorchidism, Micropenis, Micrognathia, Submucous... OMIM:613805
Achondrogenesis
Long philtrum, Aplasia/Hypoplasia of the lungs, Flat face, Micrognathia, Anteverted nares, Short ... ORPHA:932
Marbach-Rustad Progeroid Syndrome
Narrow mouth, Triangular face, Femur fracture, Hypodontia, Convex nasal ridge, Eruption failure, ... OMIM:619322
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Non-Distal Trisomy 13Q
High palate, Long philtrum, Cryptorchidism, Thick eyebrow, Abnormal eyelash morphology, Everted l... ORPHA:1702
Miller-Dieker Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Abnormality of upper lip, Anteverted nares, Short ... ORPHA:531
Cerebellar-Facial-Dental Syndrome
Long philtrum, Cryptorchidism, Tapered finger, Wide nasal bridge, Fine hair, Micrognathia, Sparse... ORPHA:444072
Pterygium Colli, Isolated
Low posterior hairline, Webbed neck, Short nose OMIM:177990
Disorder Of Sex Development-Intellectual Disability Syndrome
Short philtrum, Small scrotum, Abnormal hair pattern, Hypoplasia of penis, Low posterior hairline... ORPHA:2983
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Long philtrum, Short palm, Cryptorchi... ORPHA:171839
Arterial Tortuosity Syndrome
Avascular necrosis of the capital femoral epiphysis, Coxa valga, Rocker bottom foot, Clinodactyly... ORPHA:3342
Distal Monosomy 7Q36
Large face, Symphalangism affecting the phalanges of the hand, Bulbous nose, Non-midline cleft li... ORPHA:1636
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Short ribs, Squared iliac bones, Depressed nasal bridge, Sho... OMIM:618961
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Flat face, Pulmonary lymphangiectasia, Depressed nasal bridge, Irregular dentition,... OMIM:616006
Ruvalcaba Syndrome
Narrow mouth, Brachydactyly, Synostosis of carpal bones, Generalized hirsutism, Hypopigmented ski... ORPHA:3121
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Narrow nasal ridge, Cryptorchidism, Congenital hip dislocation, Sparse hair, Adduct... OMIM:219150
Pfeiffer Syndrome
Brachydactyly, Short philtrum, High palate, Synostosis of carpal bones, Symphalangism affecting t... ORPHA:710
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Clinodactyly, Narrow nose, Widely spaced teeth, Tapered finger, Highly arched eyebrow, Retrognath... OMIM:301044
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Triangular face, Long nose, Macroorchidism ORPHA:85327
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Short philtrum, Long philtrum, Flat face, Wide nasal bridge, Round face, Camptodact... OMIM:617333
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dermal atrophy, Dystrophic toenail, Sparse body hair, Alopecia, Alopecia of scalp OMIM:617294
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Cryptorchidism, Oligospermia, Melanocytic nevus, Facial asymmetry OMIM:314300
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Abnormal palate morphology, Flat face, Cryptorchidism, Hypospadias... ORPHA:921
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Anteverted nares, Long philtrum, Depressed nasal ridge, Flat face, Cryptorchidism,... ORPHA:464288
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Triangular face, High palate, Anteverted nares, Long philtrum, Bulbous nose, Broad hallux, Broad ... ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 59
Brachydactyly, Long philtrum, Flat face, Short palm, Highly arched eyebrow, Abnormal facial shape... OMIM:618522
Transaldolase Deficiency
Triangular face, Short philtrum, Asthma, Deep philtrum, Depressed nasal bridge, Synophrys, Thin v... OMIM:606003
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Triangular face, High palate, Clinodactyly, Long philtrum, Overlapping fingers, Tapered finger, T... OMIM:618975
47,Xyy Syndrome
Varicocele, Asthma, Cryptorchidism, Azoospermia, Micropenis, Oligospermia, Malar flattening, Macr... ORPHA:8
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Baker-Gordon Syndrome
Sleep apnea, Smooth philtrum, Thin upper lip vermilion, Prominent nasal tip, Short nose OMIM:618218
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Micrognathia, Depressed nasal bridge, Retrognathia, Avascular necrosis of the capital... ORPHA:1901
Flat Face-Microstomia-Ear Anomaly Syndrome
Narrow mouth, Long nose, Small scrotum, Long philtrum, Underdeveloped nasal alae, Abnormal oral m... ORPHA:1968
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Broad nasal tip, Short palm, Thick lower lip vermilion, Tapered... OMIM:300431
Chromosome 17Q12 Duplication Syndrome
Triangular face, Brachydactyly, Cleft soft palate, Micrognathia, Smooth philtrum, Broad thumb OMIM:614526
Microphthalmia With Limb Anomalies
High palate, Toe syndactyly, Cleft upper lip, Hand oligodactyly, Postaxial foot polydactyly, Fibu... OMIM:206920
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Clinodactyly of the 5th finger, Small hand, Broad long bones, ... OMIM:228520
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Recurrent respiratory infections, Microretrognathia, P... ORPHA:1389
Periventricular Nodular Heterotopia
Shoulder dislocation, Thin skin ORPHA:98892
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Hypopigmentation of hair, Delayed eruption of teeth, Hypopigmented skin patches, ... ORPHA:3214
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Flat face, Short ribs, Abnormality of fibula morpho... ORPHA:1803
Bartsocas-Papas Syndrome
Narrow mouth, Absent thumb, Toe syndactyly, Finger syndactyly, Underdeveloped nasal alae, Aplasia... ORPHA:1234
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Long philtrum, Everted lower lip vermilion, Widely spaced teeth, Thick lower lip... OMIM:615873
Maternal Uniparental Disomy Of Chromosome 6
Triangular face, Cleft upper lip, Miscarriage, Slender long bone, Hydrocele testis, Cleft palate,... ORPHA:96181
Distal Monosomy 3P
Triangular face, High palate, Preauricular pit, Anteverted nares, Sacral dimple, Long philtrum, C... ORPHA:1620
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Flat face, Micrognathia, Macroglossia, Bronchiectasis, ... OMIM:242860
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Cryptorchidism, Bifid distal phalanx of toe, Micrognat... OMIM:268310
Osteogenesis Imperfecta, Type X
Triangular face, Bowing of the long bones, Thin ribs, Micrognathia, Chronic lung disease, Malar f... OMIM:613848
Even-Plus Syndrome
High palate, Depressed nasal ridge, Hypodontia, Dysplasia of the femoral head, Aplasia cutis cong... OMIM:616854
Acrocephalopolydactyly
Brachydactyly, Depressed nasal ridge, Short long bone, Abnormality of the mouth, Short nose ORPHA:221054
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, 11 pairs of ribs, Sandal... OMIM:617877
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Underdeveloped nasal alae, Coarse hair, Cryptorchidism, Widely spaced... OMIM:617506
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Micrognathia, Narrow mouth, Triangular face, Hypodontia, Malar flattening, Short ... OMIM:264090
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Tented upper lip vermilion, Dental crowding, Macroorchidism, Mandibular prognathia, S... OMIM:300143
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Triangular face, High palate, Long philtrum, Supernumerary nipple, Congenital hip dislocation, Co... ORPHA:457279
Cole-Carpenter Syndrome 2
Triangular face, High palate, Narrow iliac wing, Thin ribs, Microretrognathia, Dentinogenesis imp... OMIM:616294
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Keutel Syndrome
Dermal atrophy, Underdeveloped nasal alae, Pulmonary arterial hypertension, Recurrent sinusitis, ... ORPHA:85202
Kleefstra Syndrome 1
Brachydactyly, Anteverted nares, Flat face, Cryptorchidism, Micropenis, Everted lower lip vermili... OMIM:610253
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Pleural effusion, Cough, Dyspnea ORPHA:36412
Coffin-Siris Syndrome 9
Short philtrum, High palate, Long nose, Anteverted nares, Delayed eruption of teeth, Underdevelop... OMIM:615866
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Flat face, Fibular hypoplasi... ORPHA:140
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Flat face, Short palm, C... OMIM:250215
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Round face, Low posterior hairline, Long face, Short nose OMIM:611936
16P11.2P12.2 Microdeletion Syndrome
Absent nasal bridge, Long nose, Toe syndactyly, Short palm, Bulbous nose, Flat face, Open mouth, ... ORPHA:261211
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Short palm, Flat face, Partial duplication of thumb phalanx, Abnormality of the ... OMIM:601165
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Bulbous nose, Long eyelashes, Clinodactyly of the 5th finger, Highly arched eyebro... OMIM:618828
Dystrophic Epidermolysis Bullosa Pruriginosa
Dermal atrophy, Papule, Nail dystrophy, Subcutaneous nodule, Milia, Skin plaque, Atrophic scars ORPHA:89843
Trisomy 18
Narrow mouth, Triangular face, Abnormal hip bone morphology, Webbed neck, Deviation of finger, No... ORPHA:3380
Camptodactyly Syndrome, Guadalajara Type 3
Broad nasal tip, Webbed neck, Broad columella, Flat face, Micropenis, Thickened cortex of long bo... ORPHA:488434
Peroxisome Biogenesis Disorder 12A (Zellweger)
Triangular face, Abnormality of the male genitalia, Wide nasal bridge, Abnormality of the hairlin... OMIM:614886
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
15q26 overgrowth syndrome
Triangular face, High palate, Abnormality of toe, Brachydactyly, Long philtrum, Bulbous nose, Lon... DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Thick eyebrow, Microgn... OMIM:617061
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Cryptorchidism, Congenital hip dislocation, Alopecia, Focal dermal aplasia/hypopl... OMIM:164180
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly, Malar flattening, Flat face OMIM:248770
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Flat face, Absent frontal sinuses, Torus palatinus, Round face ORPHA:2536
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Triangular face, Abnormality of femoral epiphysis, Epiphyseal dysplasia OMIM:601351
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Metaphyseal dysostosis, Recurrent bronchopulmonar... OMIM:242700
Spinocerebellar Ataxia With Dysmorphism
Coarse hair, Thick lower lip vermilion, Anteverted nares, Downturned corners of mouth, Coarse fac... OMIM:271270
Osteoglophonic Dysplasia
Long philtrum, Chordee, Cryptorchidism, Pseudoarthrosis, Mandibular prognathia, Short nose, Bowin... OMIM:166250
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Long philtrum, Flat face, Cryptorchidism, Proximal humeral... OMIM:602613
Pigmented Nodular Adrenocortical Disease, Primary, 1
Secondary amenorrhea, Thin skin, Round face, Striae distensae OMIM:610489
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Hip dysplasia, Short nose OMIM:618379
Aarskog-Scott Syndrome
Widow's peak, Clinodactyly, Cryptorchidism, Bilateral cryptorchidism, Cleft palate, Short nose, B... OMIM:305400
Tolchin-Le Caignec Syndrome
Narrow mouth, High palate, Triangular face, Clinodactyly of the 5th finger, Thick eyebrow, Wide n... OMIM:618971
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Metaphyseal widening, Cleft palate, Hip dislocation, Toe ... OMIM:615777
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Micrognathia, Distichiasis, Short nose ORPHA:2598
Distal 22Q11.2 Microduplication Syndrome
Long philtrum, Cryptorchidism, Tapered finger, Micrognathia, Macroglossia, Mandibular prognathia,... ORPHA:261337
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Narrow mouth, Short philtrum, Thick lower lip vermilion, Bronchiectasis, Depressed nasal bridge, ... OMIM:601347
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, Short nose OMIM:613443
Short Stature, Microcephaly, And Endocrine Dysfunction
Triangular face, Broad nasal tip, Long nose, Clinodactyly, Cryptorchidism, Micropenis, Convex nas... OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Dermal atrophy, Absent eyelashes, Osteolytic defects of the distal phalanges of the ... ORPHA:90153
Gaucher Disease, Perinatal Lethal
Narrow mouth, Triangular face, Open mouth, Everted lower lip vermilion, Micrognathia, Depressed n... OMIM:608013
Down Syndrome
Narrow mouth, Decreased fertility, Brachydactyly, Depressed nasal ridge, Flat face, Open mouth, S... ORPHA:870
Ectodermal Dysplasia With Mental Retardation And Syndactyly
2-3 toe syndactyly, Open mouth, Sparse eyebrow, Wide nasal bridge, Aplasia cutis congenita of sca... OMIM:600906
Distal Trisomy 5Q
Narrow mouth, Brachydactyly, Absent thumb, Hypoplasia of the ulna, Long philtrum, Flat face, Cryp... ORPHA:96097
Paganini-Miozzo Syndrome
Triangular face, Thin vermilion border, Downturned corners of mouth, Mandibular prognathia OMIM:301025
Acrofacial Dysostosis, Palagonia Type