Not currently registered for phenotyping at IMPC

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

Gene Summary

transformation related protein 63
p51/p63,  p63,  Trp53rp1,  KET protein,  TAp63,  p73L,  deltaNp63

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Trp63 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 Trp63 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Limb-Mammary Syndrome
Aplasia of the uterus, Cleft palate, Hypoplastic nipples, Absent lacrimal punctum, Malar flatteni... ORPHA:69085
Limb-Mammary Syndrome
Hallux valgus, Hypodontia, Cleft palate, Joint contracture of the hand, Bifid uvula, Split hand, ... OMIM:603543
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Bladder Exstrophy
Omphalocele, Abnormality of the ureter, Abnormality of the clitoris, Abnormality of the anus, Ing... ORPHA:93930
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Sparse eyelashes, Hypoplastic nipples, Cleft palate, Renal dysplasia, Megacystis, ... OMIM:604292
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, 2-3 toe syndactyly, Cleft palate, Sparse eyelashes, Palmoplantar keratoderma, Patent... OMIM:106260
Rapp-Hodgkin Syndrome
Hypospadias, Cleft palate, Absent lacrimal punctum, Small, conical teeth, Syndactyly, Progressive... OMIM:129400
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Thin skin, Mel... ORPHA:978
Isolated Cleft Lip
Hypodontia, Supernumerary maxillary incisor, Talipes equinovarus, Velopharyngeal insufficiency, N... ORPHA:199302
Adult Syndrome
Conjunctivitis, Toe syndactyly, Hypodontia, Hypoplastic nipples, Microdontia, Oligodontia, Premat... OMIM:103285
Eec Syndrome
Carious teeth, Cleft palate, Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, ... ORPHA:1896
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Cleft palate, Lip pit ORPHA:1072
Cleft Lip And Alveolus
Impaired mastication, Hypodontia, Dysphagia, Lip pit ORPHA:141291

The table below shows human diseases predicted to be associated to Trp63 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius ORPHA:1447
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Tetramelic Monodactyly
Foot monodactyly, Hand monodactyly, Split foot, Split hand OMIM:187510
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Bifid Nose, Autosomal Recessive
Bifid nose, Midline defect of the nose OMIM:210400
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Ectrodactyly-Cleft Palate Syndrome
Split hand OMIM:129830
Lichen Amyloidosis
Pruritus ORPHA:49804
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Erythematous plaque, Pruritis on abd... ORPHA:64745
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short distal phalanx of the 2nd finge... OMIM:616849
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Cleft palate OMIM:119550
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split foot, Split hand OMIM:129810
Aplasia of metacarpal bones, Split hand OMIM:106900
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Odonto-Onycho Dysplasia-Alopecia Syndrome
Microdontia, Sparse and thin eyebrow, Tooth malposition, Alopecia, Abnormality of dental morpholo... ORPHA:2722
Darier Disease
Plantar pits, Macule, Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Acr... ORPHA:218
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand OMIM:183700
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Carious teeth, Keloids, Erythematous papule, Atrophic scars, Pruritus, Ski... ORPHA:79410
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Irregular dentition, Dystrophic fingernails, Dystrophic toenail, Abnormality of dental morphology... OMIM:602401
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Erythematous plaque, Pustule, Annular cutane... ORPHA:79481
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand ORPHA:1487
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Carious teeth, Hypodontia, Nail dystrophy, Fragile nails, Nail dysplasia, Camptodactyly of finger... OMIM:226650
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... ORPHA:1113
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Skin vesicle ORPHA:254478
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split foot, Split hand OMIM:183800
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Premature loss of teeth, Alopecia OMIM:114580
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Parc Syndrome
Cleft palate, Alopecia, Absent eyebrow, Absent eyelashes, Microretrognathia OMIM:600331
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Hypodontia, Abnormal fingernail morphology, Delayed eruption of teeth, Conical tooth, ... ORPHA:2228
Anonychia-Microcephaly Syndrome
Carious teeth, Aplastic/hypoplastic toenail, Abnormality of the dentition, Clinodactyly of the 5t... ORPHA:1094
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Bartsocas-Papas Syndrome 1
Omphalocele, Cleft palate, Talipes equinovarus, Micropenis, Syndactyly, Pterygium, Cicatricial la... OMIM:263650
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Abnormality of the radius, Camptodactyly of finger, Hypopl... ORPHA:3138
Pemphigoid Gestationis
Pruritus, Skin vesicle ORPHA:63275
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... OMIM:182255
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Dowling-Degos Disease
Hyperkeratotic papule, Epidermoid cyst, Palmar pits, Erythematous papule, Pruritus, Digital pitti... ORPHA:79145
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle ORPHA:2841
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Uncombable hair, Abnormality of the denti... ORPHA:1264
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Split foot, Tapered finger OMIM:220600
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Small nail, Triphalangeal thumb, Nail dystrophy, Conical tooth, Selective tooth a... OMIM:124480
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Moebius Syndrome
Abnormality of the ulna, Cleft palate, Death in infancy, Talipes equinovarus, Aplasia/Hypoplasia ... ORPHA:570
Iga Pemphigus
Ulcerative colitis, Acantholysis, Pustule, Annular cutaneous lesion, Pruritus, Neutrophilic infil... ORPHA:555905
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Dystrophic fingernails, Dystrophic toenail, Absent toenail, Nail dystrophy, Erosion of oral mucos... ORPHA:231568
Lacrimoauriculodentodigital Syndrome
Carious teeth, Absent lacrimal punctum, Abnormal dental enamel morphology, Hypoplasia of the radi... ORPHA:2363
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... OMIM:106990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Malar flattening, Streaky metaphyseal sclerosis, Carpal bone hypoplasia... OMIM:603546
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, ... OMIM:154400
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Pulp c... OMIM:606895
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair, Agenesis of permanent teeth OMIM:212835
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Telecanthus, Finger synd... ORPHA:2751
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Abd... ORPHA:424019
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... ORPHA:2869
Acrofacial Dysostosis, Weyers Type
Hypodontia, Small nail, Solitary median maxillary central incisor, Abnormal fingernail morphology... ORPHA:952
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Dysphagia, Nail dystrophy, Enamel hypoplasia, Anonychia OMIM:616029
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Uncombable hair, Short proximal phal... OMIM:191482
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Mitten deformity, Dystrophic toenail, Sparse a... ORPHA:251393
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Hypodontia, Cleft palate, High palate, Micrognathia, Death in infa... ORPHA:989
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Enamel hypoplasia, Anonychia, Oral mucosal blisters ORPHA:79406
Pili Torti-Onychodysplasia Syndrome
Eczema, Cleft palate, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, C... ORPHA:2890
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Dystrophic fingernails, Dystrophic toenail, Absent toenail, Onychogryposis of fingernail, Nail dy... ORPHA:158676
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Oligodontia, Decreased respon... OMIM:129900
Erythema Elevatum Diutinum
Skin nodule, Skin rash, Skin vesicle ORPHA:90000
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Limb-Mammary Syndrome
Aplasia of the uterus, Cleft palate, Hypoplastic nipples, Absent lacrimal punctum, Malar flatteni... ORPHA:69085
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Parakeratosis, Skin vesicle ORPHA:158681
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Split-Hand/Foot Malformation 3
High palate, Cleft palate, Ridged nail, Nail dystrophy, Split hand, Nail dysplasia, Narrow mouth,... OMIM:246560
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Fragile skin, Hyperkeratosis OMIM:615028
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Abnormality of the subungual region, Nail dystrophy, Anonychia, Oral mucosal blisters ORPHA:79411
Acrorenal Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the r... ORPHA:971
Arthritis, Sacroiliac
Pruritus OMIM:108100
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Acrocallosal Syndrome
Hypospadias, Cleft palate, Smooth philtrum, Finger syndactyly, Micropenis, Microretrognathia, Tri... OMIM:200990
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia, Short thumb OMIM:188150
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... OMIM:147750
Treacher-Collins Syndrome
Cleft palate, Abnormal hair morphology, Thyroid hypoplasia, Hypoplasia of the thymus, Abnormal de... ORPHA:861
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia of the uterus, Occipital me... OMIM:276820
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Sparse body hair, Oral ... ORPHA:79402
Phocomelia, Schinzel Type
Aplasia of the uterus, Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the p... ORPHA:2879
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Nail dystrophy, Enamel hypoplasia, Anonychia, Oral mucosal blisters ORPHA:79405
Cloacal Exstrophy
Omphalocele, Talipes equinovarus, Absent foot, Ureteropelvic junction obstruction, Ectopic kidney... ORPHA:93929
Acrorenal Syndrome, Autosomal Recessive
Radial deviation of finger, Split foot, Clinodactyly, Split hand OMIM:201310
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited e... OMIM:218600
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Dermatitis Herpetiformis
Eczema, Macule, Pruritus, Erythema, Malabsorption, Skin vesicle ORPHA:1656
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Charlie M Syndrome
Triphalangeal thumb, Short philtrum, Thin vermilion border, Finger syndactyly, Abnormality of the... ORPHA:1406
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Sparse eyelashes, Midline notch of upper alveolar r... OMIM:129540
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, Highly arched eyebrow, High palate, Brittle hair, Supernumerary tooth,... OMIM:617412
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair ORPHA:505
Witkop Syndrome
Fine hair, Small nail, Microdontia of primary teeth, Ridged nail, Concave nail, Sparse hair, Agen... OMIM:189500
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, Abnormality... ORPHA:2222
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
High palate, Short philtrum, Shortening of all distal phalanges of the fingers, Nail dystrophy, S... OMIM:106995
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Apocrine hidrocystoma, Basal cell carcinoma, Poroma OMIM:224750
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Nail dystrophy, Nail dysplasia, Oral mucosal blisters OMIM:131900
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Epidermolysis Bullosa, Junctional, Herlitz Type
Carious teeth, Pyloric stenosis, Death in infancy, Nail dystrophy, Enamel hypoplasia, Nail dysplasia OMIM:226700
Lichen Planopilaris
Hypopigmented skin patches, Abnormal intestine morphology, Onycholysis, Alopecia, Hepatitis, Derm... ORPHA:525
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dystrophy, Enamel hypoplasia, Nail dysplasia, Sparse hair, Anodontia, Supernumerary nipple OMIM:275450
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Wells Syndrome
Pruritus, Skin vesicle ORPHA:901
Pili Torti
Brittle hair, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormali... ORPHA:2889
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Micrognathia, Sparse eyelashes, Short 4th metacarpal, Thin eyebrow, Oligodon... ORPHA:1787
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/H... ORPHA:1040
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Widely spaced teeth, Microdontia, Joint contracture of the hand, Split hand, Selective tooth agen... OMIM:225280
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death OMIM:276822
Prenatal Bowing
Bowing of the long bones OMIM:264050
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Gingival Fibromatosis-Hypertrichosis Syndrome
Hirsutism, Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, ... ORPHA:2026
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth, Onycholysis, Dystrophic toenail, Subungual hyperkeratosis... ORPHA:69087
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Nail dystrophy, Nail dysplasia, Oral mucosal blisters OMIM:131760
Classic Mycosis Fungoides
Hypopigmented skin patches, Skin plaque, Eczema, Lymphadenopathy, Erythema, Alopecia, Splenomegal... ORPHA:2584
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Mandibular prognathia, Nail dystrophy, Abnormality of hair texture, ... OMIM:601957
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Rectovaginal fistula, Pelvic kidney, Labial hypoplasia, Craniosynostosis, Telecan... OMIM:300707
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Zimmermann-Laband Syndrome
Hallux valgus, Hypodontia, High palate, Cleft palate, Wide mouth, Micrognathia, Macroglossia, Sup... ORPHA:3473
Cdags Syndrome
Hypospadias, Cleft palate, Sparse eyelashes, Short clavicles, Ectropion, Ptosis, Rectovaginal fis... OMIM:603116
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, High palate, Sparse eyelashes, Shortening of all phalanges of fingers, Long upper l... ORPHA:77258
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormality of dental morphology, Abnormal toenail... ORPHA:248
Bartsocas-Papas Syndrome
Hypoplastic toenails, Toe syndactyly, Micrognathia, Cleft palate, Popliteal pterygium, Talipes, E... ORPHA:1234
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Abnormal foot morphology, Ectro... OMIM:263750
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Horseshoe kidney, Aplasia/Hypoplasia of the patella, Genu varum, Aplasia/hypopla... ORPHA:3320
Branchioskeletogenital Syndrome
Carious teeth, Micropenis, Upper limb peromelia, Amelia involving the lower limbs, Absent nipple,... ORPHA:1299
Lacrimoauriculodentodigital Syndrome
Carious teeth, Radial deviation of the 3rd finger, Absent lacrimal punctum, Telecanthus, Dacryocy... OMIM:149730
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Absent toenail, Ridged nail, Pruritus, Abnormal toenail morphology, Abnormal ... ORPHA:89838
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, White f... ORPHA:2779
Sc phocomelia syndrome
Micrognathia, Phocomelia, Cleft upper lip, Aplasia of the ulna, Wormian bones, Knee flexion contr... OMIM:269000
Pachyonychia Congenita 2
Dry hair, Folliculitis, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail d... OMIM:167210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Nail dystrophy, Pruritus, Oral mucosal blisters ORPHA:79399
Ear-Patella-Short Stature Syndrome
Hypospadias, Hypoplastic labia minora, Cleft palate, Aplastic clavicle, Camptodactyly of finger, ... ORPHA:2554
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Long philtrum, Short ... OMIM:190351
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Periodontitis, Gingivitis, ... ORPHA:1008
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia, Alopecia, Ridged nail OMIM:614564
Isolated Congenital Digital Clubbing
Broad nail, Dystrophic fingernails, Broad finger, Clubbing of toes, Broad toe, Nail dysplasia, On... ORPHA:217059
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Cutaneous finger syndactyly, Sparse eyelashes, Small nail, Sparse and thin e... OMIM:613573
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Triphalangeal thumb, Sparse pubic hair, Agonadism, Thin upper lip vermilion, Contracture of the p... ORPHA:2232
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all distal phalanges of the fingers, Carpal bone malsegmentation, Co... OMIM:600593
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... OMIM:304950
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral r... OMIM:274000
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Codas Syndrome
Omphalocele, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Ptosis, Rectovaginal fist... OMIM:600373
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of sca... OMIM:612843
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Premature skin wrinkling, Cutis laxa ORPHA:228240
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypospadias, Micrognathia, High palate, Hip contracture, Oligodontia, Ulnar deviation of finger, ... OMIM:210730
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic... ORPHA:229717
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Hypoplasia of the radius, Micropenis, Anterior pituitary h... OMIM:181450
Epidermolysis Bullosa Acquisita
Pruritus, Nail dystrophy, Inflammation of the large intestine, Abnormal hair morphology ORPHA:46487
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Curly eyelashes, Malar flattening, Short toe, Single interphalangeal crease of fi... OMIM:611717
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxate... OMIM:311895
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Coxa vara, Irregular, rachitic-like metaphyses, Enlarged joints, Sever... OMIM:184252
Fraser Syndrome
Hypospadias, Omphalocele, Death in infancy, Abnormal hair pattern, Finger syndactyly, Umbilical h... ORPHA:2052
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Ablepharon Macrostomia Syndrome
Omphalocele, Aplasia/Hypoplasia of the nipples, Abnormal hair pattern, Camptodactyly of finger, H... ORPHA:920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity, Dislocate... OMIM:618395
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Sinusitis, Sepsis, Recurrent cutaneous abscess formation, Chronic oti... ORPHA:47
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Conical tooth, Sparse hair OMIM:618625
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Solitary Rectal Ulcer Syndrome
Bloody diarrhea, Rectal prolapse, Tenesmus, Bloody mucoid diarrhea, Stercoral ulcer, Intermittent... ORPHA:209964
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot OMIM:601348
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dystrophy, Alopecia, Nail dysplasia, Abnormality of the dentition, Oral mucosal blisters ORPHA:79397
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Dystrophic toenail, Mandibular prognathia, Thick upper lip vermilio... OMIM:226440
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Aarskog-Scott Syndrome
Cleft palate, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptoda... ORPHA:915
Chronic Mucocutaneous Candidiasis
Feeding difficulties in infancy, Hepatitis, Abnormal dental enamel morphology, Recurrent infectio... ORPHA:1334
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... OMIM:223800
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Pruritus, Perif... ORPHA:79147
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Acrofrontofacionasal Dysostosis
Hypospadias, Cleft palate, High palate, Bifid scrotum, Eyelid coloboma, Abnormality of epiphysis ... ORPHA:1784
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Aplasia/Hypoplasia of the skin ORPHA:735
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absent radius, Short tibia, Ol... OMIM:251230
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Trisomy 10P
Abnormal foot morphology, Abnormal hip joint morphology, Talipes equinovarus, Ulnar deviated club... ORPHA:171929
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, High palate, Micrognathia, Pruritus, Alopecia, Chronic mucocutaneous c... OMIM:618282
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Malar flattening, Toe clinodactyly,... ORPHA:457395
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Sparse and... OMIM:129500
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Extension of hair growth on temples to la... OMIM:219000
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Duodenal ulcer, Abnormality of the ovary, Gingival overgrowth, Nephrolithiasis, Periodontitis, Gi... ORPHA:722
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypospadias, Bifid scrotum, Abnormal spermatogenesis, Penoscrotal transposition, Renal malrotatio... ORPHA:227
Limb-Mammary Syndrome
Hallux valgus, Hypodontia, Cleft palate, Joint contracture of the hand, Bifid uvula, Split hand, ... OMIM:603543
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Hereditary Mucoepithelial Dysplasia
Fine hair, Abnormal morphology of female internal genitalia, Hematuria, Alopecia, Gingival overgr... ORPHA:1839
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta ORPHA:79129
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Reticular Dysgenesis
Sepsis, Chronic otitis media, Malabsorption, Skin rash, Aplasia/Hypoplasia of the thymus, Recurre... ORPHA:33355
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Anal canal squamous carcinoma, Recurrent vira... ORPHA:217390
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Nephrotic syndrome, Xerostomia, Breast aplasia, Generalize... ORPHA:238468
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Gingival overgrowth, Abnormality of the gastrointestinal tract, Papule,... ORPHA:2028
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Oeis Complex
Omphalocele, Talipes equinovarus, Ambiguous genitalia, female, Absence of the sacrum, Ambiguous g... OMIM:258040
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Kerion Celsi
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Thick eyebrow, Everted low... OMIM:228560
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Renal hypoplasia, Micrognathia, High palate, Talipes equinovarus, Phocomelia, Re... OMIM:266910
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormality of the humeru... ORPHA:2538
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Eem Syndrome
Carious teeth, Widely spaced teeth, Microdontia, Finger syndactyly, Selective tooth agenesis, Abn... ORPHA:1897
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Papule, Skin ulcer ORPHA:2337
Inflammatory abnormality of the skin, Prostate neoplasm, Urinary urgency, Urinary bladder inflamm... ORPHA:556
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Finger syndact... ORPHA:2251
Acrodermatitis Enteropathica
Corneal erosion, Skin ulcer, Conjunctivitis, Cheilitis, Erythema, Abnormal eyebrow morphology, Ch... ORPHA:37
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Mmep Syndrome
Oral cleft, Triphalangeal thumb, Median cleft lip, Split foot ORPHA:3434
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Bifid clitoris, Anteriorly placed anus, Unilateral renal agenesis, Bladder exst... OMIM:600057
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Atrophic scars, Papule, Skin ulcer, Skin vesicle ORPHA:48104
Seckel Syndrome 5
Hypodontia, High palate, Micrognathia, Oligodontia, Pes planus, Downslanted palpebral fissures, S... OMIM:613823
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Idiopathic Trachyonychia
Atopic dermatitis, Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyp... ORPHA:79153
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, High palate, Irregular carpal bones, Ivory epiphy... OMIM:226980
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea, Subcu... ORPHA:231
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
10Q22.3Q23.3 Microdeletion Syndrome
Talipes, Curved middle phalanx of the 4th toe, Upslanted palpebral fissure, Epicanthus, Arachnoda... ORPHA:276413
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... OMIM:250420
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Boomerang Dysplasia
Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius OMIM:112310
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Long eyelashes, Del... ORPHA:2863
Papillon-Lefèvre Syndrome
Hypertrichosis, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Sparse body... ORPHA:678
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Pruritus, Erosion of oral mucosa, Oral mucosal blisters ORPHA:79400
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb muscle hypop... OMIM:607323
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Micrognathia, Glossoptosis, Abnormality... ORPHA:3104
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Dystrophic toenail, Abnormal dental enamel morphology, Finger syndactyly, Sparse h... ORPHA:3253
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Fingernail dysplasia, Mandibular prognathia, Abnormal fingernail morphology, Alop... ORPHA:2325
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Orofaciodigital Syndrome Type 4
Genu varum, Cleft palate, Finger syndactyly, Monorchism, Camptodactyly of finger, Hypoplastic toe... ORPHA:2753
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Postaxial foot polyd... OMIM:258850
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... OMIM:184253
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Anal atresia, Trach... OMIM:314390
White-Kernohan Syndrome
Telecanthus, Short palpebral fissure, Thin upper lip vermilion, Metopic synostosis, Epicanthus, R... OMIM:619426
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, 2-3 toe syndactyly, High palate, Micrognathia, Eruption failure, Tapered... ORPHA:476126
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... ORPHA:93321
Neu-Laxova Syndrome 1
Cleft palate, Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus art... OMIM:256520
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Contracture of the proximal ... OMIM:260150
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
De Barsy Syndrome
Talipes equinovarus, Delayed eruption of teeth, Small, conical teeth, Patent ductus arteriosus, D... ORPHA:2962
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Knee dislocation, Micrognathia, High palate, Thin eyebrow, Webbed neck, Atrophic s... OMIM:618000
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Split hand OMIM:606595
Chondroectodermal Dysplasia With Night Blindness
Micrognathia, Metaphyseal dysplasia, Abnormal hair morphology, Nail dystrophy, Metaphyseal irregu... ORPHA:319195
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Esophagitis,... OMIM:619350
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy OMIM:131850
Leopard Syndrome 1
Hypospadias, Cleft palate, Limited elbow movement, Mandibular prognathia, Ptosis, Cubitus valgus,... OMIM:151100
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Bladder Exstrophy
Omphalocele, Abnormality of the ureter, Abnormality of the clitoris, Abnormality of the anus, Ing... ORPHA:93930
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:502
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Multiple Synostoses Syndrome 3
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... OMIM:612961
Hyperkeratosis ORPHA:1659
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Nail dystrophy, Gingival recession, Fragile nails, Leukonychia, Woolly hair, Tooth agen... OMIM:615821
Seckel Syndrome 1
Hypospadias, Cleft palate, Pes planus, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped e... OMIM:210600
Charcot-Marie-Tooth Disease And Deafness
Split hand, Hammertoe OMIM:118300
Barber-Say Syndrome
Hypoplastic nipples, Wide mouth, Ectropion, Telecanthus, Delayed eruption of teeth, Generalized h... ORPHA:1231
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Anteriorly placed anus, Upslanted palpebral fissure, Absent radius, Anal atresia, A... OMIM:600123
Lelis Syndrome
Carious teeth, Hypodontia, Absent lower eyelashes, Mandibular prognathia, Yellow nails, Nail dyst... ORPHA:140936
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Fingernail dysplasia, Supernumerary tooth, Delayed eruption of... OMIM:614188
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Finger clinodactyly, Agenesis of inc... ORPHA:3352
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Nail Disorder, Nonsyndromic Congenital, 6
Nail dystrophy, Nail dysplasia, Anonychia, Tapered distal phalanges of finger OMIM:107000
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Postaxial oligodactyly, Apla... ORPHA:52056
Postaxial Acrofacial Dysostosis
Micrognathia, Cleft palate, Malar flattening, Downslanted palpebral fissures, Hypoplasia of the r... ORPHA:246
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating follicle stimulating hormone level, Telecanthus, Premature ovarian insuffici... ORPHA:572333
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Finger syndactyly, San... OMIM:264475
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Nail dysplasia OMIM:226670
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma OMIM:613988
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Sparse eyelashes, Hypoplastic nipples, Cleft palate, Renal dysplasia, Megacystis, ... OMIM:604292
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Malar flattening, Synostosis of joints, Abnormality of tibia morphology,... ORPHA:2496
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Micrognathia, Hip contracture, Adducted thumb, Long philtrum, Inguinal hernia, Knee flexion contr... OMIM:616266
Micrognathia, Aglossia, Adactyly, Microglossia, Epicanthus, Split hand, Narrow mouth, Retrognathia OMIM:103300
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Fanconi Anemia, Complementation Group B
Death in infancy, Duodenal atresia, Bilateral radial aplasia, Esophageal atresia, Patent ductus a... OMIM:300514
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Hallux valgus, Pyloric stenosis, Abnormal foot morphology, Posterior pituitary hypop... ORPHA:268261
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Split foot, Split hand OMIM:183802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Myelodysplasia, Multiple myeloma, Hepatocellu... ORPHA:158057
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Scalp-Ear-Nipple Syndrome
Fine hair, Renal hypoplasia, 2-3 toe syndactyly, Narrow palpebral fissure, Abnormal hair morpholo... OMIM:181270
Cleidocranial Dysplasia
Carious teeth, Sinusitis, Cleft palate, Dystrophic toenail, Abnormal dental enamel morphology, De... ORPHA:1452
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Phocomel... ORPHA:245
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, 2-3 toe syndactyly, Cleft palate, Sparse eyelashes, Palmoplantar keratoderma, Patent... OMIM:106260
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brachydactyly OMIM:611263
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Onycholysis, Abnormal fingernail morphology, Abnormal dental enamel morphology, Advanc... ORPHA:1028
Oculocerebrocutaneous Syndrome
Cleft palate, Eyelid coloboma, Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital cyst OMIM:164180
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand OMIM:607831
Finnish Upper Limb-Onset Distal Myopathy
Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand musc... ORPHA:399086
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal fingertip morphology, Dermal translucency, Thick eyebrow ORPHA:529965
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Partial Androgen Insensitivity Syndrome
Hypospadias, Abnormality of secondary sexual hair, Aplasia of the uterus, Gynecomastia, Bifid scr... ORPHA:90797
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... ORPHA:1350
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails OMIM:614927
Bullous Dystrophy, Hereditary Macular Type
Short finger, Tapered finger, Alopecia totalis, Abnormality of the nail, Death in childhood OMIM:302000
Carious teeth, Hypodontia, Delayed eruption of permanent teeth, Micrognathia, Ridged nail, Osteol... OMIM:265800
Carious teeth, Widely spaced primary teeth, Sparse eyelashes, Microdontia of primary teeth, Spars... OMIM:257960
Ivic Syndrome
Triphalangeal thumb, Rectovaginal fistula, Aplastic clavicle, Synostosis of carpal bones, Hypopla... ORPHA:2307
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate, Absent radius OMIM:179400
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Townes-Brocks Syndrome
Hypospadias, Broad hallux phalanx, Abnormal foot morphology, Triphalangeal thumb, Bifid scrotum, ... ORPHA:857
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... ORPHA:93322
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Broad hallux phalanx, Abnormal muscle fiber morphology, 1-3 toe syndactyly, Hirsutis... OMIM:175700
C Syndrome
Omphalocele, Accessory oral frenulum, Patent ductus arteriosus, Toe syndactyly, Micrognathia, Hig... OMIM:211750
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Wide mouth, Talipes equinovarus, Aplasia/Hypoplasia of the nipples, Absent eyebro... OMIM:200110
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Gastrointestinal infarctions, Petechiae,... ORPHA:91138
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infections, Alopecia, Recurrent inf... OMIM:616576
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Malar flattening, Downslanted palpebral fissures, Lower eyelid colobo... OMIM:618939
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Duane Retraction Syndrome
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... ORPHA:233
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Cleft palate, Pruritus, Delayed eruption of teeth, Gingivitis, Papule, Skin rash, Abnorma... ORPHA:2314
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Patchy alopecia, Talipes equinovarus, Tapered finger, Short palm, Camptodactyly of f... ORPHA:85279
Deafness-Craniofacial Syndrome
Alopecia, Short lingual frenulum OMIM:125230
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Upslanted palpebral fissur... ORPHA:1352
Odontomicronychial Dysplasia
Slow-growing nails, Premature eruption of permanent teeth, Short nail, Thin nail, Abnormality of ... ORPHA:1811
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Triangular mouth, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft p... OMIM:616331
Mammary-Digital-Nail Syndrome
Nail dystrophy, Nail dysplasia, Anonychia OMIM:613689
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Sandal gap,... OMIM:609638
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Abnormal lip morphology, Smooth philtrum, Micrognathia, Microdontia, Wide mo... ORPHA:2707
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Clonus, Foot osteomyelitis, Acral ulceration, Spasticity, Spastic paraplegia, Prog... ORPHA:139578
Familial Visceral Myopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia, Cleft palate, Aganglionic meg... ORPHA:2604
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Micrognathia, Rudimentary postaxial polydactyly of hands, Cleft palate, Hi... OMIM:600325
Hemifacial Atrophy, Progressive
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... OMIM:141300
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Everted lower lip vermilion, Sparse hair OMIM:242300
Tukel Syndrome
Carpal synostosis, Syndactyly, Postaxial oligodactyly, Carpal bone aplasia OMIM:609428
Pierpont Syndrome
Smooth philtrum, Long upper lip, Malar flattening, Telecanthus, Prominent subcalcaneal fat pad, M... OMIM:602342
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema... ORPHA:542592
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Nail dystrophy, Acne inversa, Hypoplastic sweat glands, Natal tooth OMIM:617337
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Alopecia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of ... ORPHA:90153
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Diastasis recti, Palpebral edema, Sparse and thin eyebrow, Short long bone, ... OMIM:252500
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... ORPHA:129
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the ulna, Microdontia, Aplasia/Hypoplasia of the radius, Abnormality of the metaph... ORPHA:1837
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Chronic Granulomatous Disease
Sinusitis, Pyloric stenosis, Eczema, Sepsis, Mediastinal lymphadenopathy, Macule, Skin ulcer, Mal... ORPHA:379
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Sweeney-Cox Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Short clavicles, Upper eyelid coloboma, ... OMIM:617746
Peutz-Jeghers Syndrome
Abnormality of the ureter, Rectal prolapse, Precocious puberty with Sertoli cell tumor, Oral mela... OMIM:175200
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Generalized amyotrophy, Urinary incontinence, Gastroesophageal reflux, Hiatus he... OMIM:601162
Dermatoosteolysis, Kirghizian Type
Nail dystrophy, Nail dysplasia, Oligodontia, Split hand OMIM:221810
Nablus Mask-Like Facial Syndrome
Smooth philtrum, Sparse eyelashes, Hypoplastic nipples, Joint contracture of the hand, Short palp... OMIM:608156
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Split hand ORPHA:100998
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Short finger, Choking episodes, Supernumerary tooth, Prominent... ORPHA:2980
Dermatopathia Pigmentosa Reticularis
Nail dystrophy, Alopecia of scalp, Reticulate pigmentation of oral mucosa OMIM:125595
Trichodermodysplasia-Dental Alterations Syndrome
Fine hair, Sparse lateral eyebrow, Brittle hair, Supernumerary tooth, Delayed eruption of teeth, ... ORPHA:3353
Colorectal polyposis, Hypertension, Functional intestinal obstruction, Abnormal prostate morpholo... ORPHA:251992
Anonychia With Flexural Pigmentation
Carious teeth, Alopecia of scalp, Abnormal hair morphology, Anonychia ORPHA:69125
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Hallux valgus, Talipes equinovarus, Torticollis, Dysplasia of the femoral head, De... ORPHA:536467
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Maternal Phenylketonuria
Micrognathia, High palate, Long philtrum, Bifid distal phalanx of the thumb, Esophageal atresia, ... ORPHA:2209
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Supernumerary tooth, Hypoplasia of the zygomatic bone ORPHA:3145
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias, Absent radius OMIM:312190
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cutis laxa, Excessive wrinkled skin, Thin vermilion border, Thin skin, Dermal transluc... OMIM:614438
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal upper limb amyotrophy, Split hand, Hammertoe OMIM:614455
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Hydronephrosis, Aganglionic megacolon, Vesicovaginal fistula, Rectovaginal fist... OMIM:236700
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Hammertoe, Split hand, Hypotrophy of the small hand muscles, Ulnar claw OMIM:607684
Fontaine Progeroid Syndrome
Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Patent ductu... OMIM:612289
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Recurrent skin infections ORPHA:79503
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Cleft Palate, Isolated
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Micrognathia, Sparse hair, Deep palmar crease, Torticollis, Tem... ORPHA:2872
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
Imagawa-Matsumoto Syndrome
Hypertrichosis, Mandibular prognathia, Large hands, Camptodactyly, Anteriorly placed anus, Crypto... OMIM:618786
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Hypergonadotropic hypogonadism, Annular pancreas, Pelvic kidney, Esophageal atr... OMIM:227646
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Jackson-Weiss Syndrome