Gene Summary

Ed1,  Eda-A2,  EDA1,  Eda-A1

IMPC Data Collections

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.

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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.

Phenotype associated images not available

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

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

Disease Similarity of
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pili Gemini
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... ORPHA:79492
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Book Syndrome
Premature graying of hair OMIM:112300
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Clouston Syndrome
Brittle hair, Palmoplantar hyperkeratosis, Absent pubic hair, Photophobia, Conjunctivitis, Alopec... OMIM:129500
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Cari... OMIM:612843
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Decreased fertility OMIM:158250
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Uvula, Bifid
Bifid uvula OMIM:192100
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pho... OMIM:602400
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Everted upper lip vermilion, Sparse eyelashes, Depressed nasal bridge, Conical tooth,... OMIM:224900
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails OMIM:190320
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Single transve... OMIM:616788
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Naegeli-Franceschetti-Jadassohn Syndrome
Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premature loss of teeth, Hypopigmenta... ORPHA:69087
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Photo... OMIM:308800
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Prominent nose, Carious teeth, Fl... OMIM:203550
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... OMIM:226650
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Spermatogenic Failure 17
Male infertility OMIM:617214
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Rubinstein-Taybi Syndrome 2
Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi... OMIM:613684
Cranioectodermal Dysplasia
Finger syndactyly, Epicanthus, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Ante... ORPHA:1515
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Narrow nasal tip, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse h... ORPHA:2985
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Tooth Agenesis, Selective, 3
Anhidrosis, Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morpho... OMIM:604625
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... OMIM:106260
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... OMIM:613573
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Depressed nasal ridge, Abnormality of skin pigmentation, Thin ski... ORPHA:1810
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Abnormal eyelid morphology, Pustul... ORPHA:37
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Generalized hypotrichosis OMIM:207780
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Photophobia, Keratoconjunctivitis ... OMIM:619016
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... OMIM:129400
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Thin skin, Irregular hyperpigmentation, Co... ORPHA:2500
W Syndrome
Hypoplasia of the ulna, Telecanthus, Radial bowing, Broad uvula, Depressed nasal bridge, Broad na... ORPHA:2804
Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Thin skin... ORPHA:1660
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic sca... ORPHA:79402
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Cryptorchidism, L... OMIM:272440
Focal Facial Dermal Dysplasia Type I
Aplasia cutis congenita, Absent eyelashes, Bulbous nose, Low anterior hairline, Spotty hypopigmen... ORPHA:79133
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Bifid... ORPHA:139474
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormalit... ORPHA:659
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... ORPHA:2228
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Dystrophic fingernails, Absent toenail OMIM:614927
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... OMIM:305100
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Carious teeth, Palmoplantar hyperkeratosis, Hypohidrosis, Thick vermilion border... ORPHA:363523
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Photophobia, Palmoplantar keratod... OMIM:618535
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:620199
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Photo... ORPHA:2045
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Thin upper lip vermilion, Hyperhidrosis, Palmoplantar keratoderma, Sparse hair, Ename... OMIM:613576
Carvajal Syndrome
Woolly hair ORPHA:65282
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Wide nasal bridge, Skin dimple, Thin skin, Sparse hair, Hypopigmentation of the ski... ORPHA:261304
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Depressed nasal b... OMIM:614941
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Blindness, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic ... OMIM:158310
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... ORPHA:364577
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Recurren... ORPHA:477
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Redu... ORPHA:171673
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Promi... OMIM:617364
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... ORPHA:2026
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... ORPHA:248
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co... OMIM:602562
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Myopia, Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the ... ORPHA:1067
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro... OMIM:619293
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... ORPHA:251393
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Short toe, Hypohidrosis, Palmar hyperl... OMIM:242100
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Hyperhidrosis, Atrophic scars, Palmoplantar keratoderma, Na... ORPHA:79406
Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... ORPHA:570
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Keratitis, Abnormal hair morphology, Reduced visual acuity, Upslanted palpebral fissure, Malar fl... OMIM:122430
Böök Syndrome
Abnormal eyebrow morphology, Hypoplastic fingernail, Abnormality of the dentition, Small hand, Na... ORPHA:1262
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... ORPHA:1355
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Curly hair, Telecanthus, Anteverted nares, Pierre-Robin sequence, S... OMIM:619980
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hyperkeratosis, P... OMIM:300918
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... ORPHA:2325
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Epidermolysis Bullosa, Junctional 4, Intermediate
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... OMIM:619787
Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis
Sparse scalp hair, Conical tooth, Hypohidrosis, Low insertion of columella, Thick vermilion borde... OMIM:618180
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr... ORPHA:3220
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Vernal Keratoconjunctivitis
Photophobia, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cor... ORPHA:70476
Poikiloderma With Neutropenia
Skin rash, Micrognathia, Sparse eyebrow, Carious teeth, Recurrent pneumonia, Nasolacrimal duct ob... OMIM:604173
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M... ORPHA:79405
Hall-Riggs Syndrome
Metaphyseal dysplasia, Epicanthus, Anteverted nares, Depressed nasal bridge, Prominent nose, Thic... OMIM:234250
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Prominent nasal bridge, Wide nasal bridge, Nasolacrim... ORPHA:978
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... ORPHA:2025
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Thin vermilion border, Alopecia of scalp, Toenail dysplasia, Visual... ORPHA:1532
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Reduced visual acuity, Blep... ORPHA:98957
Anonychia With Flexural Pigmentation
Abnormal skin morphology of the palm, Hypermelanotic macule, Abnormal hair morphology, Carious te... ORPHA:69125
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Hypopigmented streaks, Conjunctivitis, Blepharitis, Abnormality ... ORPHA:254478
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, M... ORPHA:166108
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Abnormality of skin pi... ORPHA:79411
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia OMIM:226700
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Epicanthus, Bilateral single transverse palmar creases, Abnormal dental enam... ORPHA:3236
Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia
Epicanthus, Bulbous nose, Congenital, generalized hypertrichosis, Wide nasal base, Thick nasal al... OMIM:135400
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Epicanthus, Thick nasal alae, Depressed nasal bridge, Abnormality of the d... ORPHA:557003
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Oligodontia, Everted lower lip vermilion, ... OMIM:614940
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Winchester Syndrome
Corneal opacity, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad... OMIM:277950
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Palmoplantar blistering, Absent eyelashes, Palmoplantar hyperkeratosi... OMIM:604536
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Wid... ORPHA:75496
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos... OMIM:226670
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy... OMIM:141300
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Brachydactyly, Single transverse palmar crease, Hydrocele testis, Notched prim... OMIM:620062
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Sparse hair, Hypoplasia of t... OMIM:257850
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Psoriasiform dermatitis, Blepharitis, Developmental cataract OMIM:616834
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned... OMIM:618729
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Short metacarpal, Brachydactyly, Dental crowding, Underdeveloped nasal ... OMIM:190351
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the hand, Abnormality of the dentition, Super... ORPHA:1264
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Long phi... OMIM:615225
Oculodentodigital Dysplasia
Dry hair, Selective tooth agenesis, Fragile nails, High palate, Joint contracture of the 5th fing... OMIM:164200
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Epicanthus, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the uppe... ORPHA:88630
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Hypohidrosis, Ever... ORPHA:181
Chand Syndrome
Curly hair, Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Ankyloblepharon, Agenes... ORPHA:1401
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Photophobia, Keratoconjunctivitis sicca, Punct... OMIM:617388
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Hypodo... OMIM:129490
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Sparse eyelashes, Abnormal eyelid morphology, Micrognathia, High, narrow palat... ORPHA:1787
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Reduced visual acuity, Microcornea, Limb... ORPHA:2334
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Epicanthus, Sandal gap, Highly arched eyebrow, Long fingers, Patellar hypoplasia, Pulmo... ORPHA:261279
Ectodermal Dysplasia-Blindness Syndrome
Blindness, Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Abnormality... ORPHA:1806
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Bilate... ORPHA:3253
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
48,Xyyy Syndrome
Epicanthus, Depressed nasal bridge, Thick lower lip vermilion, Recurrent upper respiratory tract ... ORPHA:99329
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Single transverse palmar crease, Cryptorchidism, Cleft palate, Thin vermilion border,... OMIM:615502
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Skin rash, Hypermelanotic macule, Tapered finger, Abnormal h... ORPHA:317
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip, Thick lower ... OMIM:300602
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Brittle hair, Depressed nasal bridge, Single transverse palmar crease, Highly arched ... OMIM:617412
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ankyloblepharon, Photophobia, Aminoaciduria, Pterygium, Alopecia, Hy... ORPHA:910
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Hall-Riggs Syndrome
Delayed eruption of teeth, Epicanthus, Slow-growing hair, Thick hair, Abnormal dental enamel morp... ORPHA:2107
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Myopia, Alopecia, Photophobia, Palmoplantar keratoderma, Conjunctivitis, Erythroderm... OMIM:242150
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... OMIM:605282
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... ORPHA:3214
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Thick nasal alae, Conical tooth, Persistence of primary teeth, Scarring... OMIM:618727
Zimmermann-Laband Syndrome
Micrognathia, High palate, Absent fingernail, Bifid uvula, Supernumerary tooth, Deep palmar creas... ORPHA:3473
Limb-Mammary Syndrome
Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,... ORPHA:69085
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Micrognathia, Open bite, Cryptorchidism, Carious teeth, Low ... ORPHA:2617
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... OMIM:225060
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Epicanthus, Myopia, Brachydactyly, Abnormal retinal vascular... ORPHA:1390
Dermochondrocorneal Dystrophy
Reduced visual acuity, Large hands, Corneal dystrophy, Abnormality of the hand ORPHA:79149
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnorm... ORPHA:1807
Hamamy Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of hair w... OMIM:611174
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Blindness, Sparse eyelashes, Trichiasis, Sparse eyebrow, Ker... OMIM:148210
Dyskeratosis Congenita
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo... ORPHA:1775
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia... OMIM:234050
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, B... ORPHA:2710
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Low anterior hairline, Wide nasal bridge,... OMIM:617392
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Cutaneous ... OMIM:211380
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis, Hypohidrosis OMIM:615328
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis OMIM:614328
Seckel Syndrome 5
Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cryptorchidism, Cleft palate, Oli... OMIM:613823
Adult Syndrome
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... OMIM:103285
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Ohdo Syndrome
Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Cryptorchidis... OMIM:249620
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Conical incisor, Widely spaced... OMIM:257980
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Blindness, Erythrodontia, Scarring alopecia of scalp, Loss o... ORPHA:95159
Xeroderma Pigmentosum, Complementation Group D
Entropion, Cataract, Keratitis, Telangiectasia, Photophobia, Keratoconjunctivitis sicca, Conjunct... OMIM:278730
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Anterior pituitary hypoplasia, Sin... OMIM:619841
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpho... ORPHA:2363
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... OMIM:607823
Scarf Syndrome
Epicanthus, Inguinal hernia, Cryptorchidism, Wide nasal base, Low posterior hairline, Hypocalcifi... ORPHA:3134
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Anhidrosis, Conical tooth, Hypohidrosis, Aplasia of the sweat glands, Concave ... OMIM:612132
Leopard Syndrome 2
Curly hair, Epicanthus, Depressed nasal bridge, Multiple lentigines, Webbed neck, Cafe-au-lait sp... OMIM:611554
Pfeiffer-Palm-Teller Syndrome
Blepharophimosis, Epicanthus, Enamel hypoplasia ORPHA:2871
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Photophobia, Conjunctivitis, Sparse... ORPHA:2273
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Epicanthus, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:10
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... ORPHA:59303
Heimler Syndrome 1
Retinal pigment epithelial mottling, Leukonychia, Beau's lines, Enamel hypoplasia, Amelogenesis i... OMIM:234580
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Atypical scarring of skin, ... ORPHA:79410
Dental Ankylosis
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Oral mucosal blisters, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail... OMIM:226600
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Underdeveloped nasal alae, Cryptorchidism, Fine hair, Sparse or absent eyel... ORPHA:217346
Momo Syndrome
Delayed eruption of teeth, Epicanthus, Hyperconvex nail, Thick lower lip vermilion, Dental malocc... OMIM:157980
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Anteverted nares, Epicanthus, Wide nasal bridge, Upslanted palpebral fiss... ORPHA:50812
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Sparse eyebrow, Avascu... ORPHA:77258
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Epicanthus, Bowing of the legs, Subperiosteal bone resorption, Carious... OMIM:277440
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bifid nasal tip, Bilateral cleft lip ... OMIM:618874
Cohen Syndrome
Short metacarpal, Bone spicule pigmentation of the retina, Single transverse palmar crease, Decre... OMIM:216550
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... ORPHA:47
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Coxa valga, Micrognat... OMIM:618363
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Synophrys, Wide nasal bridge, Downturned corners of mou... OMIM:618067
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Anteverted nares, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, K... ORPHA:238468
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Prolidase Deficiency
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Depressed nasal bridge, Abno... ORPHA:742
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Sparse eyebro... ORPHA:884
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia, Downslanted palpebral fissures, Brachydactyly ORPHA:2643
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Thin upper lip vermilion, Bilateral single transverse palmar creases, Abnormal... ORPHA:502
Cockayne Syndrome Type 2
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Cryptorchidism, ... ORPHA:90322
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodontia, Short p... ORPHA:391408
Aredyld Syndrome
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental e... ORPHA:1133
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm... ORPHA:89838
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Short thumb, Partial duplication of thumb ... OMIM:620193
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Mandibular prognathia, Hallux valgus, Telecanthus, Dental crowding, Hyperopic astigmatism, Atopic... OMIM:606772
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Malar flatte... OMIM:212780
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Bartsocas-Papas Syndrome
Finger syndactyly, Median cleft lip, Corneal opacity, Alopecia totalis, Toe syndactyly, Micrognat... ORPHA:1234
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Smith-Magenis Syndrome
Mandibular prognathia, Toe syndactyly, Tented upper lip vermilion, Anteverted nares, Delayed erup... ORPHA:819
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft lip, Cleft palate, Cutane... ORPHA:2890
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Mucous Membrane Pemphigoid
Blindness, Corneal opacity, Gingivitis, Oral mucosal blisters ORPHA:46486
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Palmoplantar keratoderma, Nail dystrophy, Hypodontia, Enamel hypoplasi... OMIM:616029
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... ORPHA:1882
Cranioectodermal Dysplasia 4
Epicanthus, Anteverted nares, Onychogryposis, Cutaneous finger syndactyly, Thin vermilion border,... OMIM:614378
Keratoendotheliitis Fugax Hereditaria
Keratitis, Photophobia, Opacification of the corneal stroma, Conjunctival hyperemia, Blurred vision OMIM:148200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Micrognathia, Conical tooth, Ankyloblepharon, Hyperconvex fingernails, Coarse hair, Widely spaced... ORPHA:1071
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy, Reduced visual acuity, Visual impairment OMIM:607541
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Finger syndactyly, Abnormal dental morphology, Selective tooth... ORPHA:1897
Juvenile Xanthogranuloma
Abnormal oral mucosa morphology, Visual loss, Hyphema, Uveitis, Asymmetry of iris pigmentation, I... ORPHA:158000
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Dental malocclus... OMIM:616202
Sparse hair, Fine hair ORPHA:2118
Lowry-Maclean Syndrome
Short nasal bridge, Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary... ORPHA:2409
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Hypohidrosis, Palmar hyperlinearity, Palmoplantar keratoderma, Eclabion, Ectropion OMIM:606545
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Pneumonia, External genita... ORPHA:1867
Leukonychia Totalis
Abnormal fingernail morphology, Abnormal eyelash morphology, Nephrolithiasis, Photophobia, Adenom... ORPHA:2387
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... OMIM:617337
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Hyp... OMIM:150400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Cataract, Constrictio... OMIM:240300
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Broad nasal tip, Achilles tendon contracture, Dental malocclusion, Spot... OMIM:619719
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Synophrys,... OMIM:193510
Trisomy 4P
Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Abnormal hair pattern, Abnormal... ORPHA:1738
Lelis Syndrome
Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel... ORPHA:140936
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Micrognathia, Narrow mouth, Synophrys, Wide nasal bridge, Narrow palate, Fine hai... OMIM:620250
Mulibrey Nanism
Wide nose, Dental crowding, Single transverse palmar crease, Depressed nasal bridge, Absent front... OMIM:253250
Noonan Syndrome 6
Curly hair, Epicanthus, Depressed nasal bridge, Long eyebrows, Cryptorchidism, Bilateral ptosis, ... OMIM:613224
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M... ORPHA:79409
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy, Visual impairment ORPHA:1490
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple,... ORPHA:1812
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Anteverted nares, Fine hair, Sparse hair, Ptosis OMIM:615278
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Atrophic scars, Nail dystrophy, Nail dysplasia, Arthrogryposis multiplex c... OMIM:226730
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Oculomaxillofacial Dysostosis
Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal ... ORPHA:1794
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Anhidrosis, Autoamputation of digits, Episodic hyperhidrosis, Paronychia, Hypogeusia, Osteolytic ... OMIM:201300
Lymphedema-Distichiasis Syndrome
Ptosis, Cataract, Recurrent skin infections, Proteinuria, Cleft upper lip, Corneal erosion, Cleft... ORPHA:33001
Snijders Blok-Campeau Syndrome
Epicanthus, Inguinal hernia, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely ... OMIM:618205
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Phot... ORPHA:293381
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Scarf Syndrome
Epicanthus, Inguinal hernia, Prominent nasal bridge, Cryptorchidism, Low anterior hairline, Wide ... OMIM:312830
Crouzon Syndrome
Amblyopia, Hypoplasia of the maxilla, Hypopigmented skin patches, Narrow palate, Melanocytic nevu... ORPHA:207
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodontia, Widely sp... OMIM:601216
Obesity And Hypopigmentation
Red hair OMIM:620195
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Prominent nasal bridge, Long nose, Pierre-Robin sequence, Cleft pa... OMIM:619184
Taurodontia OMIM:272700
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... ORPHA:1193
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short metatarsal, Pseudohypo... OMIM:612463
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Short Syndrome
Alopecia, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den... ORPHA:3163
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Anteverted nares, Taper... ORPHA:444072
Bloom Syndrome
Syndactyly, Prominent nose, Cryptorchidism, Recurrent upper respiratory tract infections, Spotty ... OMIM:210900
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... ORPHA:3019
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Choanal atresia, Absent eyelashes, Preaxial hand polydactyly, Carious t... ORPHA:2316
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Nail dystrophy, Thin skin, Dermal atrophy, Short nose, Convex... ORPHA:90154
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Hyperconvex nail, Thick lower l... ORPHA:2563
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy, Visual impairment ORPHA:3177
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Immunodeficiency 46
Failure to thrive, Conjunctivitis, Chronic oral candidiasis OMIM:616740
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Wide nose, Depressed nasal bridge, ... ORPHA:96264
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Decreased ... ORPHA:2980
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dyskeratosis Congenita, X-Linked
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Conjun... OMIM:305000
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... OMIM:210600
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Amblyopia, Abnormal lacrimal sac morphology, Dacryocystitis, E... ORPHA:141083
Ring Dermoid Of Cornea
Amblyopia, Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, A... OMIM:180550
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha... OMIM:311200
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Inguinal hernia, Abnormal dental en... ORPHA:96263
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Hereditary Sensory And Autonomic Neuropathy Type 5
Malar flattening, Abnormality of the gingiva, Anhidrosis, Abnormality of the dentition ORPHA:64752
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Alopecia, Brachydactyly, Abnormal dental enamel morphology, Prominent nose, Ab... ORPHA:1005
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis OMIM:613493
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Clubbing of fingers, Conjunctivitis, Recurrent apht... OMIM:191900
Trichothiodystrophy 1, Photosensitive
Brittle hair, Microcornea, Photophobia, Sparse hair, Tiger tail banding, Trichoschisis, Small nai... OMIM:601675
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hyperopi... ORPHA:397973
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Dry hair, Reduced subcutaneous adipose tissue, Anhidrosis... OMIM:216400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Prominent nose, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Microdontia, Radial bow... OMIM:210720
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Numerous nevi, Depressed nasal bridge, Low posterior hairline... OMIM:613707
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr... ORPHA:158673
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Autosomal Agammaglobulinemia
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... ORPHA:33110
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, 1-4 finger ... OMIM:225280
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thu... OMIM:620192
Dermatopathia Pigmentosa Reticularis
Reticulate pigmentation of oral mucosa, Palmoplantar hyperkeratosis, Hypohidrosis, Reticular hype... OMIM:125595
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Reticular hyperpigmentation, Hypohidrosis, Palmoplantar keratoderma, Premature los... OMIM:161000
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Onychogryposis of toenails, 2-3 toe syndactyly, Wide nasal bridge, Hypohidrosis, ... OMIM:600906
Lipoid Proteinosis
Subcutaneous nodule, Alopecia of scalp, Nasal polyposis, Papule ORPHA:530
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Thin upper lip vermilion, Fine hair, Upslanted palpebral fissure, Downt... ORPHA:231137
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris... ORPHA:1473
Cockayne Syndrome B
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dry hair, Anhidrosis, Slender nose, P... OMIM:133540
Bietti Crystalline Dystrophy
Blindness, Large central visual field defect, Constriction of peripheral visual field, Retinal pi... ORPHA:41751
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Median cleft palate, Large for gestational age ORPHA:2432
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Synophrys, High palate, Recurrent aspiration pneumonia, Prominent pal... ORPHA:280633
Trichodermodysplasia-Dental Alterations Syndrome