banner
Genes Phenotypes Help, News, Blog

Gene: Ripk4 MGI:1919638

Log in to follow

Gene Summary

Name:
receptor-interacting serine-threonine kinase 4
Synonyms:
RIP4,  DIk,  ANKK2,  PKK,  Ankrd3

Order Alleles

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Ripk4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Ripk4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Ripk4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Ripk4tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Ripk4tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 104 images

Ripk4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ripk4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Ripk4 mutations

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

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

The table below shows human diseases predicted to be associated to Ripk4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Autoamputation of digits, Nail dystrophy, Ichthyosis, Parakeratosis, Pa... ORPHA:100976
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft... OMIM:618779
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Hyperna... OMIM:256500
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Aca... ORPHA:166113
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Tooth agenesis, Gingival recession, Leukonychia, Nail dystrop... OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Abnormal dental morphology, Superficial dermal perivascular inflammator... OMIM:618531
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... OMIM:619859
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato... ORPHA:90368
Vulvovaginal Gingival Syndrome
Erythema, Abnormal female external genitalia morphology, Oral ulcer, Parakeratosis, Gingivitis, P... ORPHA:83453
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, Parakeratosis, 2-5 finger syndac... OMIM:308050
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Midshaft hypospadias, Delayed eruption of teeth, Camptodactyly of finger, Toot... ORPHA:2863
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Abnormality of the dentition, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Parakeratosis, Palmo... OMIM:242300
Distal Deletion 10P
Wide nasal bridge, Webbed neck, Hypoplasia of penis, Micrognathia, Bilateral single transverse pa... ORPHA:1580
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Anteverted nares, Narrow mouth, ... ORPHA:59315
Anonychia With Flexural Pigmentation
Carious teeth, Abnormal skin morphology of the palm, Abnormal hair morphology, Alopecia of scalp,... ORPHA:69125
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
15Q24 Microdeletion Syndrome
Wide nasal base, Small hand, Clinodactyly, Narrow mouth, Cryptorchidism, Anal atresia, Hypospadia... ORPHA:94065
Apert Syndrome
Bifid uvula, Choanal atresia, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Delayed... ORPHA:87
Tylosis With Esophageal Cancer
Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ... OMIM:148500
Psoriasis 14, Pustular
Erythema, Furrowed tongue, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Geogr... OMIM:614204
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Cryptorchidism, Anal atre... OMIM:175700
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ... OMIM:619208
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Micrognathia, Cryptorchidism, Anal atresia, High palate, Gastroesophageal reflux... OMIM:613792
Feingold Syndrome
Deviation of the 2nd finger, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognath... ORPHA:1305
Trisomy 18
Narrow mouth, Bilateral single transverse palmar creases, Cryptorchidism, Anal atresia, Non-midli... ORPHA:3380
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis, Tapered finger ORPHA:2812
Renpenning Syndrome
High, narrow palate, Alopecia, Abnormal hairshaft morphology, Broad columella, Thin eyebrow, Macr... ORPHA:3242
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Long philtrum, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicu... OMIM:615225
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Abnormal phalangeal joint morphology of the hand, Palmoplantar keratoderma, Ed... ORPHA:498359
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Atopic derma... OMIM:616854
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Promi... OMIM:229850
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Choanal atresia, Preaxial hand polydactyly, Anteverted nares, Micrognathia, Deep ... OMIM:610536
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly OMIM:614526
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ... OMIM:607602
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Abnormal female external gen... ORPHA:1707
Xk Aprosencephaly Syndrome
Narrow mouth, Abnormal morphology of the radius, Polyhydramnios, Abnormal nostril morphology, Ana... ORPHA:3469
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Esophageal atresia, Micropeni... ORPHA:95706
Blepharocheilodontic Syndrome 1
Choanal atresia, High anterior hairline, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia... OMIM:119580
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Choanal atresia, Hypertrichosis, Submucous cleft hard palate, Low posterior hairline... OMIM:619227
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal fistula, Esophageal atresia, A... OMIM:314390
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Recurr... ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Focal Facial Dermal Dysplasia 3, Setleis Type
Depressed nasal bridge, Thick upper lip vermilion, Bulbous nose, Low anterior hairline, Distichia... OMIM:227260
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Death in infancy, Neonata... OMIM:613390
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Generalized hirsutism, 2-5 finger cutan... OMIM:617746
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Cleft palate, Synda... ORPHA:294975
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth ORPHA:2310
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Eosinophilic microabscess formatio... ORPHA:411696
Cartilage-Hair Hypoplasia
Sparse eyebrow, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Fair hair, Fine hair... OMIM:250250
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Esophagitis, Amelia, Perineal fistula, Abnormal metacarpal morphology, Rectal ... ORPHA:2538
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sparse eyelashes, Oligodontia, Hy... OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Orthokeratosis, White scaling skin, Parakeratosis, Erythroderma, Palmar... OMIM:604777
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Ichthyosis, Hypogonado... ORPHA:494
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Distichiasis, Abnormal h... ORPHA:1997
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Palmoplantar blistering OMIM:131800
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Encephalocele, Irregular dentition, Cryptorchidism, Ta... OMIM:619148
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Webbed neck, Absent thumb, Hypoplastic sacrum, Depressed nasal tip, Micrognath... OMIM:614083
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Frontal... OMIM:305450
Distal Deletion 12Q
Overlapping toe, Micrognathia, Large hands, Duodenal atresia, High, narrow palate, Bulbous nose, ... ORPHA:96149
Mosaic Trisomy 14
Wide nasal bridge, Hypospadias, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge... ORPHA:1703
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Hypergran... OMIM:615598
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Nail dystrophy, Death in infancy, Oral mucosal blisters, Enamel hypop... OMIM:226730
Focal Facial Dermal Dysplasia Type Iii
Wide nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Sparse lateral eyebrow, Downturn... ORPHA:1807
Septo-Optic Dysplasia Spectrum
Anosmia, Dry skin, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of p... ORPHA:3157
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Feingold Syndrome 1
Wide nasal bridge, Short thumb, Short toe, Duodenal atresia, Depressed nasal tip, Anteverted nare... OMIM:164280
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Facial erythema, Palmoplanta... OMIM:212360
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Hypogonadism, Death in infancy, Tracheoesophageal fistula... OMIM:300514
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Palmoplantar blistering, Oral mucosal blisters, Palmoplantar hyperkeratosis, ... ORPHA:89838
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Isolated Klippel-Feil Syndrome
Webbed neck, Abnormal shoulder morphology, Low posterior hairline, Ectopic anus, Spina bifida, An... ORPHA:2345
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Inte... OMIM:614326
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Facial wrinkling, Micrognathia, Frontal upswee... ORPHA:93932
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos... ORPHA:3406
Schisis Association
Micromelia, Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at... ORPHA:63862
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Nail dystrophy, Oral mucosal blisters, Palmar hyperkeratosis, Plant... ORPHA:79399
Tetrasomy 12P
Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe... ORPHA:884
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty... ORPHA:93259
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Methimazole Embryofetopathy
Choanal atresia, Tracheoesophageal fistula, Esophageal atresia, Polyhydramnios, Hypospadias ORPHA:1923
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... ORPHA:989
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet OMIM:246000
3C Syndrome
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Finger s... ORPHA:7
Trisomy 12P
Wide nasal bridge, Downturned corners of mouth, Supernumerary nipple, Thick eyebrow, Micrognathia... ORPHA:1699
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ... ORPHA:317
Trisomy 1Q
Depressed nasal bridge, Small scrotum, Toe syndactyly, Microretrognathia, Camptodactyly of finger... ORPHA:261344
Hadziselimovic Syndrome
Thick lower lip vermilion, Anteverted nares, Prominent nasal bridge, Low anterior hairline, Anal ... OMIM:612946
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Intestinal malrotation, ... OMIM:617602
Chromomycosis
Hyperkeratotic papule, Predominantly lower limb lymphedema, Hyperparakeratosis, Lymphedema, Abnor... ORPHA:182
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Cryptorchidism, Anal atresia, Flat acetabular roof, Spar... OMIM:616300
Feingold Syndrome Type 1
Toe syndactyly, Short thumb, Duodenal atresia, Short middle phalanx of finger, Micrognathia, Shor... ORPHA:391641
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Coarse hair, Eczematoid dermatitis, Underdeveloped nasal alae, Contracture of ... ORPHA:83617
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypospadias, Hypoplasia of... ORPHA:1381
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Maternal Phenylketonuria
Wide nasal bridge, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Bifid distal phal... ORPHA:2209
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Tooth agenesis, Abnormality of the wrist, Abnormal femur morphology, Micrognathia,... ORPHA:2063
Johanson-Blizzard Syndrome
Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Anteriorly placed anus, Underd... ORPHA:2315
Anus, Imperforate
Ectopic anus, Anal atresia, Hypospadias OMIM:301800
Acrocardiofacial Syndrome
Wide nasal bridge, Hypospadias, Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly... ORPHA:2008
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femora... OMIM:613091
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Micrognathia, Low posterior hairline, Missing ribs, Anal atresia, Hypospa... OMIM:220210
Pfeiffer Syndrome Type 3
Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depressed nasal brid... ORPHA:93260
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Fryns Syndrome
Micrognathia, Cryptorchidism, Anal atresia, High palate, Hypospadias, Non-midline cleft of the up... ORPHA:2059
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Diffuse palmoplantar hyperkeratosis... ORPHA:2199
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresi... ORPHA:3412
Lipoid Proteinosis
Abnormal oral mucosa morphology, Thickened skin, Nasal polyposis, Microglossia, Acne, Thick lower... ORPHA:530
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, High palate,... OMIM:616809
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the capital femoral ... OMIM:617425
Distal Deletion 10Q
Clinodactyly, Micrognathia, High palate, Anal atresia, Hip dislocation, Short nose, Prominent fin... ORPHA:96148
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Van Esch-O'Driscoll Syndrome
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Clinodactyly of the 5th finger,... OMIM:301030
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Sparse hair, Short foot, Short metacarpal, Coxa magna, Bulbous nose, Avascular ... OMIM:190351
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Dry skin, Cutaneous finger syndactyly, Frontal upsweep of hair, Hypo... OMIM:618419
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Xerostomia, Carious teeth, Cryptorchidism, Sparse eyelashes, Absence of Stensen d... OMIM:129900
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy... ORPHA:454
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha... ORPHA:363444
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Wide n... ORPHA:93271
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi... ORPHA:2753
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Cleft lip, Palmoplantar keratoderma, Eczematoid dermatitis, Spars... ORPHA:2890
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morph... OMIM:612582
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger, High ... ORPHA:376
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy... ORPHA:505
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Emanuel Syndrome
Bifid uvula, Congenital hip dislocation, Tooth malposition, Submucous cleft lip, Delayed eruption... ORPHA:96170
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Vacterl/Vater Association
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the radius, Occipital encephalocele, Fing... ORPHA:887
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia ORPHA:2408
Rubinstein-Taybi Syndrome 2
Broad thumb, Carious teeth, Short 5th toe, Micrognathia, High palate, Syndactyly, Prominent finge... OMIM:613684
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Bifid uvula, Small hand, Abnormality of the dentition, Choanal atresia, Depres... OMIM:300968
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Dry skin... OMIM:129400
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Alopecia totalis, Hypoplastic iliac wing, Micrognathia, Dry skin, Absent ey... OMIM:263650
Chilblain Lupus
Discoid lupus rash, Finger swelling, Inflammatory abnormality of the skin, Skin ulcer, Malar rash... ORPHA:90280
Prolidase Deficiency
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Erythema,... ORPHA:742
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Redundant neck skin, Syndactyly, Scapular winging, Cleft palate, Upper... ORPHA:2901
Emanuel Syndrome
Congenital hip dislocation, Gastroesophageal reflux, Dental crowding, Long philtrum, Intestinal m... OMIM:609029
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... OMIM:249710
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Abnormality of the uterus, Intestinal malrotation, Decrease... ORPHA:2970
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe... OMIM:300373
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Absent thumb, Anteriorly placed anus OMIM:615272
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, High palate, Short foot, Gastroesophage... OMIM:300882
46,Xy Sex Reversal 4
Depressed nasal ridge, Hypoplasia of the uterus, Long philtrum, Gonadal dysgenesis, Prominent nos... OMIM:154230
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Sparse lateral eyebrow, Orthokeratosis, Eczematoid dermati... OMIM:617337
Pontocerebellar Hypoplasia, Type 11
Talipes equinovarus, Anal atresia, Dysphagia, Bulbous nose OMIM:617695
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia, Oligohydramnios OMIM:274265
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of pe... ORPHA:77298
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Enamel hypoplasia, Follicular hyperkeratosis,... OMIM:613576
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia DECIPHER:42
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane... ORPHA:163966
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Downturned corners of mouth, Short philtrum, Ectopic anus, Aplasia/Hypopla... ORPHA:94066
Opitz Gbbb Syndrome
Wide nasal bridge, Hypospadias, Gastroesophageal reflux, Unilateral cleft lip, Cleft upper lip, U... OMIM:300000
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Gastroesophageal reflux, Depressed nasal... ORPHA:3071
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Crypt... OMIM:227646
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the ulna, Abnormal morpholo... ORPHA:3138
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Low posterior hairline, Anal atresia, Cle... OMIM:617925
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Long philtrum, Thick lower lip vermili... OMIM:619451
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er... OMIM:617526
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Narrow nasal bridge, Pr... ORPHA:1225
Hidrotic Ectodermal Dysplasia
Thickened skin, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sp... ORPHA:189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Broad hallux, Tented upper lip vermilion, Agan... OMIM:614749
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Sparse hair, ... OMIM:618625
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Fine hair, Long philtrum, Decreased testicular si... ORPHA:251019
Fliedner-Zweier Syndrome
Long philtrum, Bulbous nose, Hallux valgus, Anal atresia, Tracheoesophageal fistula, High palate,... OMIM:620511
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of finger, Abno... ORPHA:2251
Classic Mycosis Fungoides
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkerato... ORPHA:2584
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Thickened skin, Finger syndactyly, Sparse lateral eyebrow, Long philtrum, Toot... ORPHA:1252
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Vater/Vacterl Association
Choanal atresia, Occipital encephalocele, Short thumb, Preaxial polydactyly, Abnormal nasopharynx... OMIM:192350
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Generalized hirsutism, Narrow palat... ORPHA:3019
Charge Syndrome
Micrognathia, Cryptorchidism, Absent radius, Bilateral talipes equinovarus, Anal atresia, Dysphag... OMIM:214800
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Short toe, Congenital ichthyosiform erythroderma, S... OMIM:242100
Van Maldergem Syndrome 1
Wide nasal bridge, Dental malocclusion, Clinodactyly, Anteriorly placed anus, Downturned corners ... OMIM:601390
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Anal atres... OMIM:617063
Christian Syndrome
Wide nasal bridge, Anal atresia, Short middle phalanx of finger OMIM:309620
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Abnormal nasopharynx morpholog... OMIM:607323
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Finger syndactyl... ORPHA:2994
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia... OMIM:600325
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Anal atresia, Brachydactyly ORPHA:1436
Fraser Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Abnormal vagina morphology, Female pseudohermap... ORPHA:2052
Anus, Imperforate
Anal atresia OMIM:207500
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Thick eyebrow, Microdontia, T... OMIM:619736
Imagawa-Matsumoto Syndrome
Clinodactyly, Anteriorly placed anus, Umbilical hernia, Hypertrichosis, Cryptorchidism, Wide nasa... OMIM:618786
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Short distal phalanx of finger, Anal stenosis, Gastroesophageal reflux... OMIM:614080
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sparse eyebrow, Sandal gap, Oral-pharyngeal dysphagia, Thick lower ... ORPHA:506358
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Natal tooth, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal dea... OMIM:609638
Down Syndrome
Narrow mouth, Bilateral single transverse palmar creases, Protruding tongue, Open mouth, Celiac d... ORPHA:870
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Craniofrontonasal Dysplasia
Finger syndactyly, Low posterior hairline, High palate, Hypospadias, Depressed nasal ridge, Orofa... ORPHA:1520
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Jejunal atresia, Brachydactyly, Short middle phalanx of finger ORPHA:391646
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Mic... OMIM:265380
Cat-Eye Syndrome
Anal atresia, Hip dysplasia ORPHA:195
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasi... OMIM:616029
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Hypospadias, Eczematoid dermatitis, Porokeratosis, Abnormal dental enamel morp... ORPHA:85199
Juberg-Hayward Syndrome
Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormal eyebrow morp... ORPHA:2319
Harlequin Ichthyosis
Depressed nasal ridge, Congenital ichthyosiform erythroderma, Ichthyosis, Hand polydactyly, Eryth... ORPHA:457
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Anal atresia, Low hanging columella, Hirsutism OMIM:619318
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Lichen Planopilaris
Alopecia, Skin ulcer, Neoplasm of the oral cavity, Abnormal intestine morphology, Pruritus, Hyper... ORPHA:525
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Gastroesophageal reflux, Rectovaginal fistula, Dela... OMIM:600373
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Depressed nasal bridge, Clitoral hypertrophy, Toe syndactyly, Broad nasal tip, 3-4 toe syndactyly... OMIM:300707
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal morphology of female in... ORPHA:1834
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Depressed nasal ridge, Toe syndactyly, Branchial fistula, Long philtrum, Camptodacty... ORPHA:261337
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Glandular hypospadias, High pala... ORPHA:2473
Cardiofaciocutaneous Syndrome
Dry skin, Genu valgum, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Brittle h... ORPHA:1340
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Furrowed tongue, Gingival ... ORPHA:1839
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad thumb, Broad nasal tip, Clinodactyly, Prom... OMIM:618529
Gastroschisis
Volvulus, Intestinal malrotation, Oligohydramnios, Intestinal atresia, Polyhydramnios, Intestinal... ORPHA:2368
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Abnormal... OMIM:157900
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Short nose, Oligodont... OMIM:616331
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Short toe, Short nose, Genu valgum, Limited elbow extension, Narrow mouth, Mic... OMIM:614078
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal forearm morphology, Abnormality of the wrist, Nail dystrophy, Pruritus, Hyperkeratosis, ... ORPHA:89843
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Choanal atresia, Intestinal malrotation, Cutis laxa, Polyhydramnios, Anal atresia, Rectovaginal f... OMIM:270420
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha... OMIM:241800
Orofaciodigital Syndrome Xix
Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narrow mouth, Low p... OMIM:620107
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Supernumerary nipple, Micrognathia, Cryptorchidism, Thin upper lip vermilion,... OMIM:619243
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Anal atresia ORPHA:93950
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Kbg Syndrome
Webbed neck, Finger clinodactyly, Long philtrum, Underdeveloped nasal alae, Macrodontia, Antevert... ORPHA:2332
Mesomelia-Synostoses Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Genu valg... ORPHA:2496
Neuropathy, Hereditary Sensory, Type If
Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgus, Hyperkeratosis OMIM:615632
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology... ORPHA:3098
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Toe syndactyly, Carious teeth, Finger syndactyly, Micrognathia, Bilateral single t... ORPHA:3253
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly OMIM:615983
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Tooth agenesis, Op... ORPHA:1248
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Oral leukoplakia, Dry skin, Leukonychia, Angular cheilitis, Follicular hyperkeratosis, Punctate p... OMIM:616295
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Nar... ORPHA:3301
Prune Belly Syndrome
Congenital hip dislocation, Xerostomia, Oligohydramnios, Cryptorchidism, Talipes equinovarus, Ana... OMIM:100100
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Finger clinodactyly, Hypertrichosis, Underdeveloped nasal ... OMIM:272440
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Narrow mouth, High palate, Anal atresia, Short foot, Dysphagia, Short nose, Proportio... ORPHA:280633
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Thick verm... OMIM:619980
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Lamellar Ichthyosis
Abnormality of the dentition, Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Everte... ORPHA:313
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, M... OMIM:249000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Micrognathia, Narrow mouth, Encephalocele, Cryptorchidi... ORPHA:2166
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Abnormality of the dentition, Gastroesophageal reflux, Natal tooth, Umbilical... ORPHA:261652
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Everted lower lip vermilion, Short foot, Orofacial... ORPHA:915
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Prominent fingertip pads, Gingival overgrowth, Micrognathia, Low anterior hairline, Anal atresia,... OMIM:616875
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Thin skin, Dystrophic toenail, Crusting erythematous dermatitis, Dystrophic fingernails... ORPHA:158673
Flynn-Aird Syndrome
Alopecia, Carious teeth, Alopecia of scalp, Hyperkeratosis OMIM:136300
Cocaine Embryofetopathy
Short distal phalanx of finger, Intestinal atresia, Encephalocele ORPHA:1911
Cdags Syndrome
Hypospadias, Sparse eyebrow, Porokeratosis, Rectourethral fistula, Sparse eyelashes, Short clavic... OMIM:603116
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema ORPHA:79100
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Encephalocele... OMIM:264480
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Anteriorly placed anus, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypopla... ORPHA:1352
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia, Hyperkeratosis OMIM:247100
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Prominent fingertip pads, Anteriorly placed anus, L... OMIM:618494
De Sanctis-Cacchione Syndrome
Parakeratosis, Bilateral cryptorchidism, Gonadal hypoplasia, Bilateral coxa valga OMIM:278800
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Seborrheic dermatitis, Ovarian serous cysta... ORPHA:276280
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Small epiphys... ORPHA:166016
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermat... ORPHA:238468
Acrofacial Dysostosis, Catania Type
Webbed neck, Hypospadias, Carious teeth, Prominent nose, Micrognathia, Cryptorchidism, Single tra... OMIM:101805
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Sparse body hair, Dry skin, Nail dystrophy, Hypodontia, Sparse hair, Hy... OMIM:224750
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-... OMIM:206920
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Congenital Tufting Enteropathy
Choanal atresia, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small int... ORPHA:92050
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Micromelia, Finger syndactyly, Oligohydramnios, Micrognathia, Brachydactyly, Split h... ORPHA:2145
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Increased fecal protoporphyrin concentration, Short finger, Short metacarpal, ... OMIM:620483
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Conical tooth, Widely spaced teeth, Cutaneou... OMIM:613573
Leopard Syndrome 3
Webbed neck, Depressed nasal bridge, Dry skin, Low posterior hairline, Cubitus valgus, Curly hair... OMIM:613707
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Fanconi Anemia, Complementation Group D1
Anal atresia, Short thumb OMIM:605724
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Hyperkeratosis ORPHA:816
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Cryptorchidism, Missing... ORPHA:3027
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Ring Chromosome 13 Syndrome
Wide nasal bridge, Depressed nasal bridge, Alopecia, Hypospadias, Bifid scrotum, Aplasia/hypoplas... ORPHA:96176
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Premature Aging Syndrome, Penttinen Type
Thickened skin, Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Sparse ha... OMIM:601812
Baller-Gerold Syndrome
Erythema, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Perineal fistula, Limi... OMIM:218600
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Oligohydramnios, Perineal fistula, Hypoplasia of the radius, Rectal a... ORPHA:3016
Omodysplasia 2
Limited elbow flexion, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopla... OMIM:164745
Proteus Syndrome
Depressed nasal bridge, Open mouth, Hyperkeratosis OMIM:176920
Cole Disease
Abnormality of the dentition, Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hy... OMIM:615522
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachno... ORPHA:1883
Opitz Gbbb Syndrome
Natal tooth, Ankyloglossia, Micrognathia, Cryptorchidism, Anal atresia, High palate, Hypospadias,... ORPHA:2745
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Gastroesophageal reflux, Dry skin, Cryptorchidism, Follicular hyperkeratosis, High palate ORPHA:486815
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha... DECIPHER:46
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Death in childhood, Scaling skin, Gingivitis, Hyperkeratosis, Con... OMIM:614457
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Ulnar-Mammary Syndrome
Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger... OMIM:181450
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Atopic dermatitis, Sparse eyebrow, Dry hair, Cutaneous syndactyly of toes, Cleft lip, Cleft upper... OMIM:225060
Chime Syndrome
Erythema, Sparse hair, Hyperkeratosis, Short foot, Hip dislocation, Aplasia/Hypoplasia of the pha... ORPHA:3474
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hypogonadism, Ichthyosis, Cryptorchidism, Testicular seminoma, Hyper... ORPHA:281090
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, High palate, Follicular hyperkeratosis OMIM:617066
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bi... ORPHA:56304
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, ... OMIM:612379
Fraser Syndrome 2
Underdeveloped nasal alae, Intestinal malrotation, Oligohydramnios, Narrow mouth, Low anterior ha... OMIM:617666
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... ORPHA:312
Vacterl Association With Hydrocephalus
Radial club hand, Anal atresia, Absent thumb, Stillbirth OMIM:276950
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Umbilical hernia, Intestinal malrotation, Micrognat... OMIM:115470
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s... ORPHA:2756
Eec Syndrome
Toe syndactyly, Xerostomia, Finger syndactyly, Carious teeth, Dry skin, Aplasia/Hypoplasia of the... ORPHA:1896
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metaca... ORPHA:1406
Sirenomelia
Aplasia/Hypoplasia of the radius, Absence of the sacrum, Sirenomelia, Tracheoesophageal fistula, ... ORPHA:3169
Trichothiodystrophy 1, Photosensitive
Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail banding, Dry skin, Nail dystrophy, Inte... OMIM:601675
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis, Cryptorchidism ORPHA:461
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Juberg-Hayward Syndrome
Highly arched eyebrow, Anteriorly placed anus, Cleft upper lip, Limited elbow extension, Aplasia/... OMIM:216100
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormal... ORPHA:1005
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Short nose, Syndactyly, Gastroesophageal ref... OMIM:614701
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Small hypothenar eminence, Dental malocclusion, Short toe, ... ORPHA:2980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Hypospadias, Short nose, Gastroesophageal r... OMIM:618316
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Micropenis, Short nose, Syndactyly, Clef... OMIM:616894
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Abnormality of the dentition, Depressed... ORPHA:178303
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Abnormal limb bone morphology, Brittle hair, Hyperkeratosis, Sparse scalp ... ORPHA:1573
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Xerostomia, Carious teeth, Cryptorchidism, Sparse eyelashes, Absence of Stensen d... OMIM:604292
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Micrognathia, Patellar aplasia, Hip c... OMIM:606170
Aarskog-Scott Syndrome
Hypoplasia of the odontoid process, Clinodactyly, Cryptorchidism, Short foot, Curved linear dimpl... OMIM:305400
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Dry skin, Death in infancy, Postaxial polydactyly, Enamel hy... OMIM:614576
Renpenning Syndrome 1
Joint contracture of the hand, Micrognathia, Narrow mouth, Death in childhood, Brittle hair, Anal... OMIM:309500
Cardiofaciocutaneous Syndrome 1
Open bite, Micrognathia, Open mouth, Absent eyelashes, Low posterior hairline, Absent eyebrow, Cu... OMIM:115150
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Disloc... OMIM:605039
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Broad... OMIM:252100
Peters Plus Syndrome
Toe syndactyly, Micrognathia, Cryptorchidism, Anal atresia, Short foot, Hypoplasia of the uterus,... ORPHA:709
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias, Absent radius OMIM:312190
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Webbed neck, Hypospadias, Unilateral cleft lip, Flared metaphysis, Decreased f... OMIM:616897
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Dr... OMIM:601701
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Acne inversa, Scrotal hyperpigmentation, Penile freckling, An... ORPHA:79145
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Umbilical hernia, Short nose, Advanced tarsal ossification, Pol... OMIM:269250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Micrognathia, Abnormal gastrointestinal tract morphology, Cryptorchid... ORPHA:404440
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Palmoplantar keratoderma, Anteriorly placed anus, Umbili... ORPHA:1555
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Horizontal eyebrow, Clinodactyly, Downturned corners o... ORPHA:369891
Lethal Acantholytic Erosive Disorder
Natal tooth, Congenital alopecia totalis, Absent hair, Oligohydramnios, Absent eyelashes, Camptod... ORPHA:158687
Pallister-Hall Syndrome
Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Hydrometrocolpos, Polydac... ORPHA:672
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Anteverted nar... ORPHA:96184
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Sparse eyebrow, Abnorm... OMIM:257980
Trisomy 20P
Finger syndactyly, Micrognathia, Cryptorchidism, Low posterior hairline, Everted lower lip vermil... ORPHA:261318
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Prominent fingertip pads, Gingival overgrowth, Micrognathia, Low anterior hairline, Anal atresia,... ORPHA:480898
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Erythema, Xerostomia, Finger syndactyly, Open bite, Ankyloglossia, Narrow mout... ORPHA:2907
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... ORPHA:2839
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Bifid scrotum, Wide nose, Redundant neck skin, Hand polydactyly, Shawl... OMIM:239710
C Syndrome
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cry... OMIM:211750
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Fla... ORPHA:1427
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Anal atresia, Preaxial hand polydactyly OMIM:601389
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Alopecia, Rhizomelia, Abnormal epiphysis morphology, Sparse body ha... ORPHA:177
Poikiloderma With Neutropenia
Depressed nasal bridge, Sparse eyebrow, Carious teeth, Palmoplantar keratoderma, Sparse lateral e... OMIM:604173
Werner Syndrome
Abnormal hair whorl, Small hand, Gastrointestinal carcinoma, Skin ulcer, Premature graying of hai... ORPHA:902
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radiou... OMIM:605282
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae, Alopecia totalis, Sho... ORPHA:1234
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Tooth malposition, Small hand, Flared nostrils, Overlapping toe, Curly hair, Hig... ORPHA:480880
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Abnormal female external genitalia morphology, Dry skin,... ORPHA:235
Irida Syndrome
Abnormal intestine morphology, Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Micrognat... ORPHA:1865
Multiple Intestinal Atresia
Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microphthalmia, Syndromic 3
Cryptorchidism, Missing ribs, Hypogonadotropic hypogonadism, Esophageal atresia, Micropenis, Hypo... OMIM:206900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Microretrognathia, Bulbous nose, Anteverted nares, Oligohydramnios, Single trans... OMIM:236500
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, E... ORPHA:2908
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Broad nas... ORPHA:1784
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Curly... ORPHA:2710
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Wide nasal bridge, Abnormality of the nose, Underdev... ORPHA:1794
Pachyonychia Congenita
Alopecia, Palmoplantar keratoderma, Natal tooth, Palmoplantar blistering, Oral leukoplakia, Nail ... ORPHA:2309
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Polyhydramn... ORPHA:1423
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Talipes equi... OMIM:312870
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, Rectoperineal fistula, Anal at... OMIM:107480
Acrodysostosis
Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Cryptorchidism, N... OMIM:108720
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidi... OMIM:612651
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Bnar Syndrome
Anal stenosis, Anteriorly placed anus, Short lingual frenulum, Bifid nose, Abnormal fifth toe mor... ORPHA:217266
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... ORPHA:1515
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Hypospadias, Clinodactyly, Anteriorly placed anus, Downturned corners of ... OMIM:217980
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Psoriasiform dermatitis, De... OMIM:243150
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovarus, F... ORPHA:567
Iniencephaly
Rhizomelia, Spinal dysraphism, Absent vertebra, Myelomeningocele, Narrow mouth, Encephalocele, Ta... ORPHA:63259
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Tali... OMIM:613885
Noonan Syndrome 8
Webbed neck, Eczematoid dermatitis, Pleural effusion, Cryptorchidism, Palmoplantar cutis laxa, Cu... OMIM:615355
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Crypto... OMIM:601803
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... OMIM:615982
Cloacal Exstrophy
Hypoplasia of penis, Intestinal duplication, Abnormal clitoris morphology, Abnormal tibia morphol... ORPHA:93929
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Ascites, Anteverted nares, Micrognathia, Nar... OMIM:608013
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Recombinant 8 Syndrome
Small scrotum, Abnormal hair morphology, Micrognathia, Patellar aplasia, Bilateral single transve... ORPHA:96167
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Narrow mouth, Hypoplastic labia majora, High palate, Hypospadias, C... OMIM:123790
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Nijmegen Breakage Syndrome
Choanal atresia, Anal stenosis, Sandal gap, Cleft upper lip, Recurrent infection of the gastroint... OMIM:251260
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... OMIM:602400
Thakker-Donnai Syndrome
Webbed neck, Downturned corners of mouth, Bulbous nose, Anteverted nares, Narrow mouth, Tracheoes... ORPHA:1780
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Cutis laxa, Tracheoesophag... ORPHA:95430
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Wide nasal bridge, Clitoral hypertrophy, Toe syndactyly, Bulbous nose, Thin upper lip vermilion, ... ORPHA:140952
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Gastroesophageal reflux, Short iliac bones, Abn... ORPHA:93316
Linear Verrucous Nevus Syndrome
Toe syndactyly, Hyperkeratosis, Short metacarpal, Sparse scalp hair ORPHA:2611
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Palmoplantar blistering, Hypergranulosis, Nail dystrophy,... OMIM:148700
Jacobsen Syndrome
Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Duodenal atresia, Short nose, Hip... ORPHA:2308
Monilethrix
Abnormality of the dentition, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular... ORPHA:573
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Ectopic anus, Triphalangeal thumb, Or... ORPHA:2549
Dihydropyrimidinase Deficiency
Talipes equinovarus, Anal atresia, Short phalanx of finger OMIM:222748
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Hyperkeratosis OMIM:607936
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Short distal phalanx of finger, Broad nasal tip, Short ... OMIM:239300
Fanconi Anemia, Complementation Group R
Agenesis of permanent teeth, Anal atresia, Absent thumb, Radial dysplasia OMIM:617244
W Syndrome
Abnormality of the scalp hair, Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvul... ORPHA:2804
Isolated Osteopoikilosis
Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone os... ORPHA:166119
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hypoplastic nipples, Hallux valgus, Split... OMIM:603543
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Coarse hair, Carious teeth, Finger synda... ORPHA:1786
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, High palate, Short distal phalanx of the 5th finger, Sh... OMIM:620662
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Palmar hyperlinearity, Eclabion, Hyperkeratosis, ... OMIM:606545
Hall-Riggs Syndrome
Wide nasal bridge, Coarse hair, Abnormal epiphysis morphology, Delayed eruption of teeth, Downtur... ORPHA:2107
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Small placenta, Bifid scrotum, Oligohydramnios, Abn... ORPHA:397590
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou... ORPHA:3201
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Skin vesicle, Pruritus, Hyperkeratosis ORPHA:254478
Glass Syndrome
Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High palate, Sparse h... OMIM:612313
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus ORPHA:2866
Nijmegen Breakage Syndrome
Depressed nasal bridge, Anal stenosis, Abnormal hair morphology, Anorectal anomaly, Prominent nos... ORPHA:647
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depressed nasal bridge... ORPHA:85166
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Thick lower lip vermilion, Hypertrichosis, ... OMIM:246200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Abnormal female external genitalia morphology, Narrow mouth, ... ORPHA:95699
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed... OMIM:617102
Incontinentia Pigmenti
Erythema, Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morpho... ORPHA:464
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Sparse lateral eyebrow... ORPHA:217346
Rothmund-Thomson Syndrome Type 2
Erythema, Carious teeth, Porokeratosis, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia in... ORPHA:221016
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Aplasia/Hypoplasia of the radius, Intestinal malrotation, Oligohydramnios, Female pseudohermaphro... ORPHA:2973
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyelashes, Neonatal death, Hypo... OMIM:275210
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Edema, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse vagin... OMIM:236700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline... ORPHA:1071