Gene: Hoxc13 MGI:99560

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

homeobox C13

Synonyms:

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hoxc13 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.

Human diseases associated with Hoxc13 (1 diseases)
Human diseases predicted to be associated with Hoxc13 (1440 diseases)

The table below shows human diseases associated to Hoxc13 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ectodermal Dysplasia 9, Hair/Nail Type		Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail	OMIM:614931

The table below shows human diseases predicted to be associated to Hoxc13 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Hypotrichosis 1	Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub...	OMIM:605389
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis Simplex	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes	ORPHA:55654
Hypotrichosis 10	Sparse body hair, Sparse eyebrow, Sparse eyelashes	OMIM:614238
Striate Palmoplantar Keratoderma	Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma, Abnormality of the nail, Abnormal hair morphology	OMIM:607654
Hypotrichosis 11	Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	OMIM:615059
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypotrichosis 4	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair	OMIM:146550
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Monilethrix	Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Perifollicular ...	OMIM:158000
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h...	ORPHA:3361
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Monilethrix	Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi...	ORPHA:573
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Ectodermal Dysplasia 4, Hair/Nail Type	Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con...	OMIM:602032
Hypotrichosis 6	Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis	OMIM:607903
Witkop Syndrome	Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail	OMIM:189500
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
Pili Torti	Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn...	ORPHA:2889
Hidrotic Ectodermal Dysplasia	Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ...	ORPHA:189
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Hair Defect With Photosensitivity And Mental Retardation	Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair	OMIM:234030
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp	OMIM:610753
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Universalis Congenita	Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair	OMIM:203655
Hypotrichosis 5	Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair	OMIM:612841
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Mental Retardation Syndrome 1	Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Plantar hyperke...	OMIM:104100
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair	ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome	Hypoplastic toenails, Tooth agenesis, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, To...	ORPHA:2722
Ectodermal Dysplasia 9, Hair/Nail Type	Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail	OMIM:614931
Angioma Serpiginosum, X-Linked	Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy	OMIM:300652
Crandall Syndrome	Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair	ORPHA:202
Cerebellar Ataxia And Ectodermal Dysplasia	Sparse hair, Alopecia	OMIM:212835
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Pili torti, Sparse hair, Reduced terminal:vellus ratio	OMIM:601553
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Trichodental Dysplasia	Fine hair, Sparse hair, Brittle hair, Slow-growing hair	OMIM:601453
Alopecia Universalis	Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia	ORPHA:701
Pilodental Dysplasia With Refractive Errors	Sparse scalp hair, Brittle hair, Brittle scalp hair, Follicular hyperkeratosis, Abnormality of th...	OMIM:262020
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Bjornstad Syndrome	Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th...	OMIM:262000
Hypotrichosis 7	Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes...	OMIM:604379
Pili Torti, Early-Onset	Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th...	OMIM:261900
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair	ORPHA:1573
Sabinas Brittle Hair Syndrome	Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy	OMIM:211390
Geographic And Fissured Tongue	Geographic tongue, Furrowed tongue	OMIM:137400
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel...	ORPHA:2891
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Agenesis of per...	OMIM:602401
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the d...	OMIM:614929
Ichthyosis, Congenital, Autosomal Recessive 11	Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ...	OMIM:602400
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony...	ORPHA:1808
Clouston Syndrome	Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormalit...	OMIM:129500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Cleft upper lip, Progressive hypotrichosis, Abnormality of hair texture, Anodonti...	OMIM:225060
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho...	ORPHA:2890
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Alopecia Areata 1	Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits	OMIM:104000
Parc Syndrome	Cleft palate, Absent eyebrow, Absent eyelashes, Alopecia	OMIM:600331
Dwarfism, Familial, With Muscle Spasms	Sparse scalp hair, Fine hair, Brittle scalp hair	OMIM:600771
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Hypotrichosis 12	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin...	OMIM:615885
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp	OMIM:617294
Aredyld	Generalized hypotrichosis	OMIM:207780
Erythrokeratodermia Variabilis Et Progressiva 7	Anhidrosis, Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Absent toenail, Dystrophic fingernails	OMIM:614927
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Palmoplantar keratoderma, Woolly hair	OMIM:610476
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Sparse hair	OMIM:272980
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Alopecia universalis, Periodontitis, Congenital alopecia totalis	OMIM:104130
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Woolly scalp hair, Woolly hair, Alopecia	OMIM:601217
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Sparse hair, Plantar hyperkeratosis, Dry hair, Coarse hair, Onychogryposis of toenails	OMIM:164680
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair	ORPHA:1883
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, ...	OMIM:616099
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent...	ORPHA:1008
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Zellweger-Like Syndrome Without Peroxisomal Anomalies	High palate, Failure to thrive, Brittle hair, Upslanted palpebral fissure, Alopecia, Epicanthus	ORPHA:50812
Candidiasis, Familial, 1	Premature loss of teeth, Alopecia	OMIM:114580
Tooth Agenesis, Selective, 8	Sparse hair, Sparse eyebrow	OMIM:617073
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Hirsutism, Thick eyebrow, Tooth malposition, Upslanted palpebral fissure, Scoliosis, Horizontal e...	OMIM:618608
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye...	ORPHA:444
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Hypotrichosis 13	Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes	OMIM:615896
Progeroid Syndrome, Petty Type	Failure to thrive, Generalized hirsutism, Tooth agenesis, Thick eyebrow, Sparse hair, Brittle hai...	ORPHA:2963
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Thick eyebrow, Supernumerary tooth, Brittle hair, Thin vermilion border, Bifid uvula...	OMIM:617412
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri...	OMIM:117850
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, A...	ORPHA:248
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Nail dystrophy, Onycholysis, Brittle hair	OMIM:270300
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Adenomatous colonic polyposis, Fundic gland polyposis, Absent eyebrow, Sparse ...	OMIM:608615
Trichohepatoenteric Syndrome 2	Failure to thrive, Colitis, Woolly hair, Sparse hair, Brittle hair, Small for gestational age, Tr...	OMIM:614602
Naxos Disease	Sparse scalp hair, Abnormality of hair texture, Woolly hair, Palmoplantar keratoderma, Curly hair...	ORPHA:34217
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela...	OMIM:234050
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse hair, Hypodontia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash mo...	ORPHA:1818
Alazami-Yuan Syndrome	High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Narrow mouth, Long philtrum, Long e...	OMIM:617126
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hypodontia-Dysplasia Of Nails Syndrome	Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Fragile nails, Abnormality of the ...	ORPHA:2228
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy	Absent hair, Absent eyebrow, Absent eyelashes	OMIM:308830
Zimmermann-Laband Syndrome 2	Kyphosis, Hypertrichosis, Hirsutism, Thick eyebrow, Gingival overgrowth, Macroglossia, Short neck...	OMIM:616455
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Tooth agenesis, Supernumerary tooth, Brittle hair, Aplasia/Hypoplasia of the e...	ORPHA:3353
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Ridged nail, Fine hair, Slow-growing...	OMIM:129490
Coffin-Siris Syndrome 8	Sparse scalp hair, Failure to thrive, Thick eyebrow, Scoliosis, Long eyelashes, Thin upper lip ve...	OMIM:618362
Deafness-Craniofacial Syndrome	Short lingual frenulum, Alopecia	OMIM:125230
Oculotrichodysplasia	Nail dysplasia, Sparse scalp hair, Widely spaced primary teeth, Sparse axillary hair, Sparse eyel...	OMIM:257960
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate	Sparse hair	OMIM:129810
Netherton Syndrome	Sparse scalp hair, Brittle hair, Sparse eyebrow, Brittle scalp hair, Parakeratosis	OMIM:256500
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Brittle hair, Alopecia, Everted lower lip vermilion, Upslanted palpebral fissure, Coarse hair, Lo...	ORPHA:75389
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Trichothiodystrophy 6, Nonphotosensitive	Slow-growing hair, Brittle hair, Tiger tail banding	OMIM:616943
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate, Hyperconvex nail	OMIM:311895
Hemifacial Atrophy, Progressive	Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption...	OMIM:141300
Ectodermal Dysplasia-Syndactyly Syndrome 1	Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,...	OMIM:613573
Olmsted Syndrome 2	Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral hyperkerato...	OMIM:619208
Porphyria, Congenital Erythropoietic	Hypertrichosis, Erythrodontia, Absent eyebrow, Alopecia, Vertebral compression fracture, Loss of ...	OMIM:263700
Ectodermal Dysplasia 13, Hair/Tooth Type	Low anterior hairline, Sparse eyelashes, Thin eyebrow, Oligodontia, Thick vermilion border	OMIM:617392
L-Ferritin Deficiency	Alopecia	OMIM:615604
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Cutis Laxa, Autosomal Recessive, Type Iia	High palate, Failure to thrive, Narrow mouth, Abnormality of hair texture, Brittle hair, Coarse h...	OMIM:219200
Choroidal Atrophy-Alopecia Syndrome	Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi...	ORPHA:1433
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Jaberi-Elahi Syndrome	Kyphosis, Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Sparse eyelashes, Triangu...	OMIM:617988
Trichothiodystrophy 5, Nonphotosensitive	Wide mouth, Widely spaced primary teeth, Sparse hair, Brittle hair, Tiger tail banding, Slow-grow...	OMIM:300953
Tooth Agenesis, Selective, 4	Sparse scalp hair, Tooth agenesis, Sparse eyebrow, Short eyelashes, Sparse body hair, Agenesis of...	OMIM:150400
Zimmermann-Laband Syndrome 3	High palate, Kyphosis, Hypertrichosis, Low anterior hairline, Thick eyebrow, Gingival overgrowth,...	OMIM:618658
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt...	ORPHA:2325
Onychotrichodysplasia And Neutropenia	Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Chronic irritative con...	OMIM:258360
Oliver-Mcfarlane Syndrome	Sparse hair, Small for gestational age, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Dystrophic toenail, Fine hair, Dystrop...	ORPHA:1882
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde...	ORPHA:50814
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Hyperkeratosis, Fine hair, Slow-growing scalp hair, Parakeratosis, Alopecia of...	ORPHA:90368
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Silver-gray hair, White eyebrow, White eyelashes, Lar...	OMIM:214450
Focal Facial Dermal Dysplasia Type I	Thick upper lip vermilion, Low anterior hairline, Sparse hair, Downturned corners of mouth, Disti...	ORPHA:79133
Atopic Keratoconjunctivitis	Blepharitis, Chemosis, Loss of eyelashes, Keratoconjunctivitis sicca, Abnormal eyelid morphology	ORPHA:163934
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Wide mouth, Hypertrichosis, Gingival overgrowth, Thick eyebrow, Short philtrum, Deep philtrum, Ho...	OMIM:618381
Focal Facial Dermal Dysplasia 1, Brauer Type	Distichiasis, Sparse lateral eyebrow	OMIM:136500
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Brittle hair, Upslanted palpebral fissure, Dry hair, Epicanthus, Nail dystrophy	ORPHA:93947
Focal Facial Dermal Dysplasia 3, Setleis Type	Thick upper lip vermilion, Anal atresia, Low anterior hairline, Sparse hair, Epicanthus, Distichi...	OMIM:227260
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Ectropion, Brittle hair, Tiger tail banding, Eclabion, Trichorrhexis nodosa, C...	OMIM:616395
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Macroglossia, Hypopigmentation of hair, Gloss...	ORPHA:2221
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha...	OMIM:613102
Kerion Celsi	Alopecia	ORPHA:499
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Ridged nail, Nail dystrophy, Alopecia	OMIM:601705
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta, Trichodysplasia, Alopecia of scalp	ORPHA:79129
Pseudoprogeria Syndrome	Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ...	ORPHA:2985
Skin Fragility-Woolly Hair Syndrome	Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar hyperkeratosis, Acantholysi...	OMIM:607655
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Enamel hypoplasia, Ridged nail, Alopecia	OMIM:614564
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail, Fingernail dysp...	ORPHA:2251
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Cronkhite-Canada Syndrome	Hypoplastic toenails, Malabsorption, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypopla...	ORPHA:2930
Schopf-Schulz-Passarge Syndrome	Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma...	OMIM:224750
Trichothiodystrophy 1, Photosensitive	Pili torti, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Triangular mouth, Fragi...	OMIM:601675
Moynahan Syndrome	Cachexia, Sparse hair, Alopecia	ORPHA:2574
Nicolaides-Baraitser Syndrome	Wide mouth, Sparse hair, High, narrow palate, Alopecia, Everted lower lip vermilion, Thin vermili...	ORPHA:3051
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Rosselli-Gulienetti Syndrome	Nail dysplasia, Cleft upper lip, Progressive hypotrichosis, Anodontia, Hypodontia, Sparse eyebrow...	OMIM:225000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition...	OMIM:616901
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Failure to thrive, Kyphoscoliosis, Brittle hair, Scoliosis, Biconcave vertebral bodi...	OMIM:236200
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash...	ORPHA:113
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding	OMIM:619692
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome	Absent eyebrow, Absent eyelashes	ORPHA:2339
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Microdontia, Widely spaced teeth, Selective ...	OMIM:225280
Proliferating Trichilemmal Cyst	Sparse scalp hair	ORPHA:492
Menkes Disease	Sparse hair, Brittle hair, Alopecia	OMIM:309400
Catel-Manzke Syndrome	Failure to thrive, Cleft palate, Glossoptosis, Scoliosis, Highly arched eyebrow, Oral synechia	ORPHA:1388
Erythrokeratodermia Variabilis Et Progressiva 2	Hypertrichosis	OMIM:617524
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Palmoplantar keratoderma, Woolly hair	OMIM:611528
Coffin-Siris Syndrome 3	Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Macroglossi...	OMIM:614608
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Oral mucosal blisters, Alopecia, Abnormality of the dentition, Nail dystrophy	ORPHA:79397
Cardiofaciocutaneous Syndrome	High palate, Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Long palpebral fissure...	ORPHA:1340
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Taurodontia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Abse...	OMIM:305100
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Kyphoscoliosis, Hypodontia, Alopecia	OMIM:612079
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Short palpebral fissure, Alopecia, Upslanted palpebral fissure, Long philtrum, Thin ...	OMIM:617763
Pseudopelade Of Brocq	Sparse scalp hair, Cheilitis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nai...	ORPHA:129
Trichoodontoonychial Dysplasia With Bone Deficiency	Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy	OMIM:275450
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Leukonychia, Woolly hair, Fragile nails, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma...	OMIM:615821
Tristichiasis	Three rows of eyelashes	OMIM:190800
Distichiasis	Distichiasis	OMIM:126300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Hypodontia, Cleft palate, Brittle hair, Oligodontia, Scoliosis, Enamel hypoplasi...	OMIM:619184
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Narrow mouth, Neonatal death, Sparse eyebrow	OMIM:618810
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Carious teeth, Teleca...	OMIM:203550
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Flynn-Aird Syndrome	Carious teeth, Kyphoscoliosis, Alopecia of scalp, Alopecia	OMIM:136300
Hutchinson-Gilford Progeria Syndrome	High palate, Dental crowding, Narrow mouth, Persistence of primary teeth, Absent eyebrow, Patchy ...	ORPHA:740
Pachyonychia Congenita 2	Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Sparse eyebrow, Subungual hyperker...	OMIM:167210
Focal Facial Dermal Dysplasia Type Iii	Anal atresia, Sparse hair, Short philtrum, Abnormal hair pattern, Downturned corners of mouth, Do...	ORPHA:1807
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Trichomegaly	Long eyelashes	OMIM:190330
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Tetrasomy 12P	Thick upper lip vermilion, Anal atresia, Sparse hair, Abnormal soft palate morphology, Sparse eye...	ORPHA:884
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Blepharitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Carious teeth, Enamel hy...	OMIM:612843
Alopecia Antibody Deficiency	Sparse body hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:1006
Epidermolysis Bullosa, Junctional 1A, Intermediate	Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Carious teeth, Enamel hypoplas...	OMIM:226650
Coffin-Siris Syndrome 4	Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Macroglossia, Scoliosis,...	OMIM:614609
Rubinstein-Taybi Syndrome 2	High palate, Dental malocclusion, Hirsutism, Narrow palate, Intestinal malrotation, Carious teeth...	OMIM:613684
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Cleft palate, Alopecia, Abnormally ossified vertebrae, Thin eyebrow, Short neck, Bif...	ORPHA:2636
Cornelia De Lange Syndrome 2	High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Short neck, Downturned corners of m...	OMIM:300590
Schöpf-Schulz-Passarge Syndrome	Hypodontia, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Premature loss of primary t...	ORPHA:50944
Hypotrichosis 3	Sparse scalp hair, Abnormal sweat gland morphology, Abnormal eyelash morphology, Abnormality of t...	OMIM:613981
Mandibuloacral Dysplasia With Type B Lipodystrophy	High palate, Premature loss of teeth, Narrow mouth, Sparse hair, Brittle hair, Alopecia, Dental c...	OMIM:608612
Cardiofaciocutaneous Syndrome 2	Fine hair, Sparse hair, Curly hair, Absent eyebrow	OMIM:615278
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Sparse hair, Brittle hair, Cleft palate, Coarse hair, Long philtrum, Del...	OMIM:607812
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Cleft palate, Upslanted palpebral fissure, Alopecia, Severe failure to thrive, Co...	OMIM:215100
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm...	ORPHA:1809
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Ectropion, Everted lower lip vermilion, Alopecia	OMIM:242510
Hypomelanosis Of Ito	Kyphosis, Irregularly spaced teeth, Alopecia, Scoliosis, Epicanthus, Thick lower lip vermilion	OMIM:300337
Hepatoerythropoietic Porphyria	Ectropion, Erythrodontia, Seborrhoeic blepharitis, Keratoconjunctivitis, Facial hypertrichosis, L...	ORPHA:95159
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Woolly hair	OMIM:605676
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Abnormality of the dentition, Palpebral...	OMIM:607823
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly	Partial duplication of eyebrows, Long eyelashes	OMIM:227210
Wiedemann-Steiner Syndrome	High palate, Failure to thrive, Thick eyebrow, Abnormality of the dentition, Long philtrum, Downs...	OMIM:605130
Blepharo-Cheilo-Odontic Syndrome	Anal atresia, Abnormal hair quantity, Euryblepharon, Carious teeth, Bilateral cleft lip and palat...	ORPHA:1997
Rothmund-Thomson Syndrome, Type 1	Sparse hair, Absent eyebrow, Conical tooth, Absent eyelashes, Nail dystrophy, Thin nail	OMIM:618625
Bazex Syndrome	Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Hypohidrosis, Trichoepithelioma	OMIM:301845
Cortisone Reductase Deficiency 1	Obesity, Hirsutism, Alopecia	OMIM:604931
Mental Retardation, Buenos Aires Type	High palate, Wide mouth, Dental malocclusion, Failure to thrive, Fair hair, Curly eyelashes, Cari...	OMIM:249630
Ectodermal Dysplasia/Skin Fragility Syndrome	Sparse hair, Absent eyebrow, Absent eyelashes, Dystrophic fingernails, Nail dystrophy, Alopecia o...	OMIM:604536
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Slow-growing hair, Sparse eyelashes	OMIM:618535
Orofaciodigital Syndrome Type 1	High palate, Sparse hair, Cleft palate, Alopecia, Abnormality of the dentition, Coarse hair, Lobu...	ORPHA:2750
Coffin-Siris Syndrome 5	Sparse scalp hair, Hypoplastic toenails, Wide mouth, Low anterior hairline, Thick eyebrow, Short ...	OMIM:616938
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Hypohidrosis, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, On...	ORPHA:1028
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Abnormality of the tongue, Cheilitis, Malabsorption, Blepharitis, Fa...	ORPHA:37
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Wide mouth, Thick upper lip vermilion, Thick eyebrow, Facial hirsutism, Narrow ph...	ORPHA:163654
Amaurosis-Hypertrichosis Syndrome	Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys	ORPHA:1021
Hypertrichosis Cubiti	Generalized hirsutism, Thick eyebrow, Abnormal eyelid morphology, Abnormal nasolacrimal system mo...	ORPHA:2220
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Pili torti, Cleft upper lip, Anodontia, Sparse hair, Hypodontia, Alopecia, Aplasia/Hypoplasia of ...	ORPHA:3253
Oculodentodigital Dysplasia	Tooth agenesis, Taurodontia, Sparse hair, Brittle hair, Cleft palate, Upslanted palpebral fissure...	ORPHA:2710
Renpenning Syndrome	Anal atresia, Narrow mouth, Abnormal hairshaft morphology, High, narrow palate, Cleft palate, Alo...	ORPHA:3242
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair, Abnormality of the dentition, Scoliosis, Spina bifida occulta, Epican...	ORPHA:177
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Fine hair	ORPHA:1839
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Mcdonough Syndrome	Dental malocclusion, Kyphosis, Short palpebral fissure, Open bite, Cachexia, Short philtrum, Scol...	ORPHA:2471
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Odontoonychodermal Dysplasia	Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Orthokeratosis, Thin nail, Sparse ...	OMIM:257980
Epidermolysis Bullosa, Junctional 5A, Intermediate	Onycholysis of distal fingernails, Absent pubic hair, Premature loss of permanent teeth, Nail dys...	OMIM:619816
Acrofacial Dysostosis, Palagonia Type	Pili torti, Low anterior hairline, Supernumerary tooth, Sparse hair, High, narrow palate, Sparse ...	ORPHA:1787
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis	ORPHA:2850
Faciocardiomelic Syndrome	Wide mouth, Dental malocclusion, Short eyelashes, Long philtrum, Telecanthus, Large for gestation...	OMIM:612731
Acromicric Dysplasia	Narrow mouth, Long philtrum, Deep philtrum, Long eyelashes, Ovoid vertebral bodies, Thick lower l...	OMIM:102370
Porphyria Cutanea Tarda	Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Craniodigital-Intellectual Disability Syndrome	Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Spina bifida occulta, Long eyelashes...	ORPHA:1514
Hall-Riggs Syndrome	Wide mouth, Failure to thrive, Coarse hair, Platyspondyly, Scoliosis, Delayed eruption of teeth, ...	ORPHA:2107
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Upslanted palpebral fissure, Small for gestational age, Short philtrum, Downturned corners of mou...	ORPHA:231137
Dyskeratosis Congenita, Autosomal Recessive 6	Premature loss of teeth, Failure to thrive, Sparse hair, Alopecia, Carious teeth, Nail dystrophy,...	OMIM:616353
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Low anterior hairline, Narrow ...	OMIM:617883
Trichohepatoenteric Syndrome 1	Wide mouth, Narrow mouth, Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Small for ge...	OMIM:222470
Growth Hormone Insensitivity Syndrome	Failure to thrive, Everted lower lip vermilion, Delayed eruption of teeth, Truncal obesity, Fine ...	ORPHA:181393
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	High palate, Thick eyebrow, Long philtrum, Prominent protruding coccyx, Downslanted palpebral fis...	ORPHA:480907
Coffin-Siris Syndrome 2	Sparse scalp hair, High palate, Hirsutism, Low anterior hairline, Thick eyebrow, Wide mouth, Clef...	OMIM:614607
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Cornelia De Lange Syndrome 5	High palate, Hirsutism, Low anterior hairline, Cleft palate, Thin vermilion border, Short neck, L...	OMIM:300882
Lelis Syndrome	Yellow nails, Sparse hair, Hypodontia, Upslanted palpebral fissure, Carious teeth, Furrowed tongu...	ORPHA:140936
Rombo Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology	OMIM:180730
Blepharocheilodontic Syndrome 1	Cleft upper lip, Anal atresia, Sparse hair, Hypodontia, Distichiasis, Conical tooth, High anterio...	OMIM:119580
Marshall-Smith Syndrome	High palate, Hypertrichosis, Sparse hair, Eclabion, Short philtrum, Shallow orbits, Microdontia, ...	OMIM:602535
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Failure to thrive, Spinal rigidity, Alopecia	ORPHA:337
Leprosy	Absent eyebrow, Alopecia, Sparse body hair, Paralytic lagophthalmos, Loss of eyelashes	ORPHA:548
Mucolipidosis Ii Alpha/Beta	Wide mouth, Gingival overgrowth, Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Ma...	OMIM:252500
Quinquaud Folliculitis Decalvans	Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia	ORPHA:346
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Oligodontia, S...	ORPHA:59303
Erythrokeratodermia Variabilis	Generalized hirsutism, Alopecia, Weight loss, Abnormality of the nail, Abnormal hair morphology	ORPHA:317
Congenital Erythropoietic Porphyria	Ectropion, Erythrodontia, Seborrhoeic blepharitis, Keratoconjunctivitis, Facial hypertrichosis, L...	ORPHA:79277
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate	ORPHA:3104
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Kyphosis, Long philtrum, Scoliosis, Distichiasis	ORPHA:2598
Microtriplication 11Q24.1	Thick eyebrow, Cleft palate, Irregularly spaced teeth, Upslanted palpebral fissure, Short philtru...	ORPHA:289522
Mandibulofacial Dysostosis With Alopecia	Cleft palate, Everted lower lip vermilion, Sparse eyelashes, Alopecia, Glossoptosis, Lower eyelid...	OMIM:616367
Copper Deficiency, Familial Benign	Early balding, Curly hair	OMIM:121270
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Scarring alopecia of scalp, Anonychia, Nail dystrophy	ORPHA:79402
Johnson Neuroectodermal Syndrome	Failure to thrive, Absent eyebrow, Cleft palate, Sparse hair, Alopecia, Everted lower lip vermili...	ORPHA:2316
Keratoderma Hereditarium Mutilans	Cleft palate, Abnormality of the nail, Abnormal toenail morphology, Alopecia	ORPHA:494
Trichothiodystrophy	Sparse scalp hair, Ectropion, Split nail, High, narrow palate, Brittle hair, Tiger tail banding, ...	ORPHA:33364
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Alopecia totalis, Nail dystrophy	OMIM:212360
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Small for gestational age, Fine hair, Failure to thrive in infancy, Su...	OMIM:618891
Acromicric Dysplasia	Abnormal eyebrow morphology, Narrow mouth, Long philtrum, Long eyelashes, Ovoid vertebral bodies,...	ORPHA:969
Rapp-Hodgkin Syndrome	Cleft upper lip, Progressive alopecia, Narrow mouth, Velopharyngeal insufficiency, Sparse hair, C...	OMIM:129400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Nail dystrophy, Alopecia	OMIM:618373
Olmsted Syndrome 1	Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy	OMIM:614594
Whistling Face Syndrome, Recessive Form	High palate, Narrow mouth, Kyphoscoliosis, Short palpebral fissure, Short neck, Long philtrum, Wh...	OMIM:277720
Cantu Syndrome	Thick upper lip vermilion, Gingival overgrowth, Congenital, generalized hypertrichosis, Short nec...	OMIM:239850
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Ectropion, Sparse hair, Everted lower lip vermilion, Alopecia, Nail dystrophy	OMIM:242300
Waardenburg Syndrome Type 1	Cleft upper lip, Thick eyebrow, Cleft palate, Hypopigmentation of hair, Scoliosis, Telecanthus, W...	ORPHA:894
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Intestinal obstruction, Telecanthus, White...	ORPHA:897
Monosomy 18P	Kyphoscoliosis, Tooth malposition, Cleft palate, Alopecia, Hypodontia, Short philtrum, Short neck...	ORPHA:1598
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	High palate, Abnormality of the dentition, Alopecia	OMIM:618282
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anodontia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypodontia, Everted lower lip vermilion...	OMIM:224900
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Mcdonough Syndrome	Hypoplastic toenails, Dental malocclusion, Kyphoscoliosis, Sparse hair, Upslanted palpebral fissu...	OMIM:248950
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Ectropion, Congenital alopecia totalis, Sparse eyebrow, Eclabion, Absent pubic hair, Absent axill...	ORPHA:2269
Zimmermann-Laband Syndrome	High palate, Wide mouth, Thick eyebrow, Hypodontia, Cleft palate, Supernumerary tooth, Macrogloss...	ORPHA:3473
Distal Trisomy 6P	Narrow mouth, Abnormal hair quantity, Thin vermilion border, Short neck, Abnormal eyelash morphol...	ORPHA:1745
Flynn-Aird Syndrome	Kyphosis, Alopecia, Cachexia, Scoliosis, Carious teeth	ORPHA:2047
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Narrow mouth, Increased vertebral height, Kyphoscoliosis, Sparse hair, Small for gestational age,...	OMIM:616817
Spinocerebellar Ataxia With Dysmorphism	Coarse hair, Scoliosis, Downturned corners of mouth, Thick lower lip vermilion, Ptosis	OMIM:271270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Ptosis, Alopecia	ORPHA:1067
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Abnormality of hair texture, Nail dystrophy	OMIM:601957
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, Abnormality of the dentition, Abnor...	ORPHA:659
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Absent eyelashes	OMIM:182815
Carcinoma Of Esophagus	Esophageal neoplasm, Barrett esophagus, Weight loss, Obesity, Abnormal intestine morphology	ORPHA:70482
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance	Coarse hair	OMIM:248010
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Decreased body weight, Thin vermilion border, Long palpebral fissure, Platyspondy...	OMIM:614856
Kury-Isidor Syndrome	High palate, Hypertrichosis, Triangular mouth, Alopecia, Short neck, Long philtrum, Scoliosis, Do...	OMIM:619762
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis	OMIM:615279
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Everted lower lip vermilion, Upper ...	OMIM:616819
Oculocerebrocutaneous Syndrome	Orbital cyst, Eyelid coloboma, Cleft palate, Alopecia	OMIM:164180
Temple-Baraitser Syndrome	High palate, Wide mouth, Delayed eruption of teeth, Long eyelashes, Tented upper lip vermilion, O...	ORPHA:420561
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Malabsorption, Alopecia, Cachexia, Xerostomia, Glossitis, Protein-losing enteropa...	OMIM:175500
Blepharocheilodontic Syndrome 2	Tooth agenesis, Euryblepharon, Distichiasis, Conical tooth, Ectropion of lower eyelids	OMIM:617681
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl...	OMIM:601345
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Sparse hair, Abnormal fingernail morphology	ORPHA:1810
Developmental And Epileptic Encephalopathy 49	Thick upper lip vermilion, Short philtrum, Long eyelashes, Open mouth	OMIM:617281
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Cleft upper lip, Blepharitis, Lacrimal duct atresia, Supernumerary nipple, Patchy alopecia, Spars...	OMIM:106260
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Abnormal eyelash morphology...	ORPHA:1252
Intellectual Developmental Disorder, Autosomal Dominant 34	Upslanted palpebral fissure, Coarse hair, Bilateral ptosis, Widely spaced teeth, Epicanthus, Syno...	OMIM:616351
4Q21 Microdeletion Syndrome	Kyphosis, Generalized hirsutism, Thin vermilion border, Abnormality of the dentition, Short philt...	ORPHA:238750
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Scoliosis, Alopecia	OMIM:615704
Cataract-Intellectual Disability-Hypogonadism Syndrome	High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Scoliosis, Hyperlord...	ORPHA:1387
Waardenburg Syndrome, Type 4B	White eyebrow, White eyelashes, White forelock, Premature graying of hair, Aganglionic megacolon	OMIM:613265
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Pachyonychia Congenita	Failure to thrive, Alopecia, Onychogryposis of fingernail, Paronychia, Fingernail dysplasia, Adva...	ORPHA:2309
Dermoodontodysplasia	Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia	ORPHA:1660
Craniofrontonasal Dysplasia	High palate, Abnormality of hair texture, Woolly hair, Abnormality of the dentition, Scoliosis, R...	ORPHA:1520
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia, Abnormality of the dentition, Truncal obesity, Epicanthus, Abnorm...	ORPHA:3224
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Long eyelashes, Aplastic/hypoplastic toe...	OMIM:619293
Non-Distal Trisomy 13Q	High palate, Hypoplastic toenails, Thick eyebrow, Everted lower lip vermilion, Thin vermilion bor...	ORPHA:1702
Cutis Laxa, Autosomal Recessive, Type Iie	High palate, Lumbar hyperlordosis, Long philtrum, Scoliosis, Downslanted palpebral fissures, Long...	OMIM:619451
Proximal 16P11.2 Microduplication Syndrome	Failure to thrive, Sparse eyebrow, Sparse eyelashes, Hemivertebrae, Scoliosis, Decreased body mas...	ORPHA:370079
Orofacial Cleft 15	Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Agenesis of lateral incisor, Bilat...	OMIM:616788
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Palmopla...	OMIM:300918
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Hirsutism, Low anterior hairline, Thick eyebrow, Palpebral edema, Long eyelashes, Highly arched e...	ORPHA:466688
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Sparse hair, Cleft palate, Everted lower lip vermilion, Hyperlordos...	OMIM:619980
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Neoplasm of the oral cavity, Pterygium, Abnormal intest...	ORPHA:525
Weaver Syndrome	Hypoplastic toenails, Deep-set nails, Long philtrum, Scoliosis, Abnormal fingernail morphology, D...	ORPHA:3447
Argininosuccinic Aciduria	Dry hair, Trichorrhexis nodosa, Brittle hair	OMIM:207900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Sparse hair, Alopecia, Sparse eyelashes, Oligodontia, Enamel hypoplasia, Thick hair	OMIM:607626
Neuroocular Syndrome	Short uvula, Downslanted palpebral fissures, Long eyelashes, Distichiasis, Lagopthalmos, Ankylogl...	OMIM:619539
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Hypopigmentation of hair, Aganglionic m...	ORPHA:2885
Intellectual Developmental Disorder, Autosomal Recessive 61	High palate, Thick eyebrow, Scoliosis, Long eyelashes, Conical tooth, Synophrys, Thick hair, High...	OMIM:617773
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Narrow mouth, Low anterior hairline, Kyphoscoliosis, Sparse hair, Decreased body weight, Small fo...	ORPHA:391408
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
2Q32Q33 Microdeletion Syndrome	High palate, Narrow mouth, Sparse hair, Cleft palate, Thin vermilion border, Oligodontia, Long ph...	ORPHA:251019
Deafness-Craniofacial Syndrome	Upslanted palpebral fissure, Temporal hypotrichosis, Short philtrum, Bifid tongue, Abnormality of...	ORPHA:3241
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:181
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Atrophic, patchy alopecia, Sparse pubic hair, Enamel hypoplasia, Dystrophic...	ORPHA:251393
Abcd Syndrome	Neonatal death, Large for gestational age, Albinism, White eyelashes, White eyebrow, Total intest...	OMIM:600501
Mullegama-Klein-Martinez Syndrome	Failure to thrive, Low anterior hairline, Cleft palate, Short philtrum, Long philtrum, Curly eyel...	OMIM:301022
Ectodermal Dysplasia, Trichoodontoonychial Type	Absent nipple, Sparse hair	OMIM:129510
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Epicanthus, Fine hair, Abnormal palate morphology, Blepharophimosis, Abnormal dental enamel morph...	ORPHA:3236
Bresek Syndrome	Cleft palate, Alopecia, Hemivertebrae, Scoliosis, Neonatal death, Aganglionic megacolon	ORPHA:85284
Radio-Tartaglia Syndrome	High palate, Wide mouth, Short philtrum, Downslanted palpebral fissures, Long eyelashes, Long eye...	OMIM:619312
Alpha-Heavy Chain Disease	Malabsorption, Abnormality of the small intestine, Alopecia	ORPHA:100025
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Sparse eyelashes, Thin vermilion border, Enamel hypoplasia, Abnormal dental ename...	ORPHA:139474
Bartsocas-Papas Syndrome	Hypoplastic toenails, Narrow mouth, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyeb...	ORPHA:1234
Man1B1-Cdg	Sparse eyebrow, Eclabion, Abnormal position of hair whorl, Short philtrum, Short neck, Truncal ob...	ORPHA:397941
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Ragged-red muscle fibers, Brittle hair	OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Epicanthus, Long eyelashes, Inc...	OMIM:615502
Macs Syndrome	High palate, Gingival overgrowth, Decreased body weight, Sparse hair, Sparse eyebrow, Alopecia, E...	OMIM:613075
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal spaced incisors, Low anterior hairline, Thick eyebrow, Everted lower lip vermilion, Shor...	ORPHA:411986
Bathing Suit Ichthyosis	Ectropion, Sparse hair, Alopecia, Eclabion, Nail dystrophy	ORPHA:100976
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Anal atresia, Tooth agenesis, Delayed eruption of teeth, Downslanted palpebral fissu...	ORPHA:2863
Nabais Sa-De Vries Syndrome, Type 1	Low anterior hairline, Downslanted palpebral fissures, Telecanthus, Epicanthus, Long eyelashes, S...	OMIM:618828
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Downslanted pal...	OMIM:211370
Pulmonary Blastoma	Weight loss	ORPHA:64741
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	High palate, Wide mouth, Failure to thrive, Thin eyebrow, Scoliosis, Oral cleft, Long eyelashes, ...	ORPHA:502434
Intestinal Dysmotility Syndrome	High palate, Failure to thrive, Broad philtrum, Weight loss	OMIM:620045
Trichorhinophalangeal Syndrome Type 1 And 3	High palate, Leukonychia, Supernumerary tooth, Sparse hair, Sparse eyebrow, Sparse eyelashes, Lon...	ORPHA:77258
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Upslanted palpebral fissure, Abnormality of the dentition, Telecanthus, Conical tooth, ...	ORPHA:228390
Congenital Non-Bullous Ichthyosiform Erythroderma	Failure to thrive, Ectropion, Abnormality of the nail, Alopecia	ORPHA:79394
Trichothiodystrophy 8, Nonphotosensitive	Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Noonan Syndrome 5	Wide mouth, Sparse eyebrow, Short neck, Downslanted palpebral fissures, Epicanthus, Large for ges...	OMIM:611553
Giant Axonal Neuropathy	Woolly hair, Limb muscle weakness, Pili canaliculi, Abnormality of the Achilles tendon, Facial palsy	ORPHA:643
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Schuurs-Hoeijmakers Syndrome	Wide mouth, Low anterior hairline, Diastema, Downturned corners of mouth, Downslanted palpebral f...	OMIM:615009
Tietz Albinism-Deafness Syndrome	White eyebrow, White eyelashes	OMIM:103500
Pontocerebellar Hypoplasia Type 10	Long palpebral fissure, Long eyelashes, Highly arched eyebrow	ORPHA:411493
Congenital Disorder Of Glycosylation, Type Iia	Wide mouth, Hirsutism, Gingival overgrowth, Thick eyebrow, Sparse hair, Failure to thrive, Everte...	OMIM:212066
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Fibrodysplasia Ossificans Progressiva	Alopecia, Scoliosis, Widely spaced teeth, Small cervical vertebral bodies, Progressive cervical v...	OMIM:135100
Lessel-Kubisch Syndrome	Premature graying of hair, Sparse pubic hair	OMIM:618681
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Leukonychia, Thin nail, Sparse hair, Narrow palate, Thin eyebrow, Long philt...	OMIM:190350
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair...	OMIM:614941
2Q23.1 Microduplication Syndrome	Wide mouth, Low anterior hairline, Abnormality of the dentition, Bilateral ptosis, Long eyelashes...	ORPHA:313947
Auriculocondylar Syndrome 2	Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ...	OMIM:614669
Oculomaxillofacial Dysostosis	Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Abnormality of the ...	ORPHA:1794
Renpenning Syndrome 1	High palate, Anal atresia, Narrow mouth, Sparse hair, Cleft palate, Brittle hair, Upslanted palpe...	OMIM:309500
Aredyld Syndrome	Abnormal dental enamel morphology, Narrow mouth, Upslanted palpebral fissure, Sparse body hair, A...	ORPHA:1133
Lipoid Proteinosis	High palate, Abnormality of the gingiva, Alopecia of scalp, Abnormal oral mucosa morphology, Tong...	ORPHA:530
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Wide mouth, Vertebral segmentation defect, Thick eyebrow, Cleft palate, Hemivert...	ORPHA:1394
Leopard Syndrome 2	Short neck, Downslanted palpebral fissures, Epicanthus, Curly hair, Thick lower lip vermilion	OMIM:611554
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth	OMIM:618732
Nablus Mask-Like Facial Syndrome	High palate, Narrow mouth, Low anterior hairline, Sparse hair, Sparse eyebrow, Sparse eyelashes, ...	OMIM:608156
Epilepsy, Progressive Myoclonic, 9	Microglossia, Scoliosis	OMIM:616540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Wide mouth, Failure to thrive, Sparse hair, Supernumerary nipple, Thin vermilion ...	ORPHA:217346
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Kyphosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyeb...	ORPHA:3082
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	High palate, Kyphosis, Hirsutism, Low anterior hairline, Woolly hair, Broad eyebrow, Short philtr...	OMIM:619244
Syndromic Diarrhea	Colitis, Woolly hair, Gastritis, Brittle hair, Small for gestational age, Hypopigmentation of hai...	ORPHA:84064
Mucopolysaccharidosis, Type Iiic	Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Kyphoscoliosis, Everted lower lip vermili...	OMIM:252930
Burning Mouth Syndrome	Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to...	ORPHA:353253
Cerebrooculonasal Syndrome	High palate, U-Shaped upper lip vermilion, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral ...	ORPHA:66625
Waardenburg Syndrome, Type 2A	Albinism, White eyelashes, White eyebrow, Synophrys, White forelock, Premature graying of hair	OMIM:193510
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Hypohidrosis, Abnormal fingernail morphology, Hyperkeratosis, Fine hair	ORPHA:1806
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse hair, Sparse eyebrow, Hyperconvex nail, Sparse eyelashes, Hyperconvex fingernails, Coarse ...	ORPHA:1071
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Thin vermilion border, Short neck, Long philtrum, Epicanthus, Fine hair	OMIM:614800
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	High palate, Short neck, Long philtrum, Scoliosis, Long eyelashes, Failure to thrive in infancy	OMIM:619026
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short philtrum, Microdontia, Curly hair, Thick eyebrow, Short palpebral fissure, Scoliosis, Bleph...	OMIM:617360
3-Methylglutaconic Aciduria, Type Ix	High palate, Failure to thrive, Long eyelashes, Short neck	OMIM:617698
Pontocerebellar Hypoplasia, Type 13	High palate, Thick upper lip vermilion, Failure to thrive, Short philtrum, Macrodontia, Volvulus,...	OMIM:618606
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	High palate, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Thin upper lip vermil...	OMIM:617523
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse body hair, Palpebral edema, Absent eyelashes	ORPHA:69735
Koolen-De Vries Syndrome	Vertebral segmentation defect, Kyphosis, Abnormality of hair texture, Narrow palate, High, narrow...	ORPHA:96169
X-Linked Agammaglobulinemia	Failure to thrive, Malabsorption, Alopecia, Glossoptosis, Weight loss, Conjunctivitis	ORPHA:47
Cantú Syndrome	Wide mouth, Generalized hirsutism, Low anterior hairline, Thick eyebrow, Short neck, Long philtru...	ORPHA:1517
Waardenburg Syndrome, Type 4A	White eyebrow, White eyelashes, White forelock, Premature graying of hair, Aganglionic megacolon	OMIM:277580
Systemic Lupus Erythematosus 17	Oral ulcer, Alopecia	OMIM:301080
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	High palate, Failure to thrive, Sparse eyebrow, Sparse eyelashes, Bilateral cleft lip and palate,...	OMIM:618874
Johnson Neuroectodermal Syndrome	Absent eyebrow, Cleft palate, Sparse hair, Alopecia, Carious teeth, Absent eyelashes	OMIM:147770
Acrogeria	Fine hair	ORPHA:2500
Leopard Syndrome 3	Epidermal hyperkeratosis, Hyperkeratosis, Curly hair, Low posterior hairline	OMIM:613707
Adult Syndrome	Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Abnormality of the dentition, Fing...	ORPHA:978
8Q22.1 Microdeletion Syndrome	Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition, Short neck, Abnormal hair pattern...	ORPHA:178303
Hartnup Disorder	Glossitis	OMIM:234500
X-Linked Dominant Chondrodysplasia Punctata	High palate, Kyphoscoliosis, Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Abnormally ossifi...	ORPHA:35173
Rothmund-Thomson Syndrome, Type 2	Sparse scalp hair, High palate, Kyphoscoliosis, Supernumerary tooth, Absent eyebrow, Sparse hair,...	OMIM:268400
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Sparse hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Curly hair, Hyperhidr...	OMIM:615280
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ...	OMIM:257850
Hydrocephalus-Obesity-Hypogonadism Syndrome	Absent facial hair, Sparse facial hair, Low posterior hairline	ORPHA:2183
Pontocerebellar Hypoplasia, Type 10	High palate, Kyphoscoliosis, Long palpebral fissure, Long eyelashes, Thin upper lip vermilion, Hi...	OMIM:615803
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Ermine Phenotype	Albinism, White eyelashes, White hair, White eyebrow	OMIM:227010
Naxos Disease	Woolly hair, Sparse eyebrow, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Subungual hyp...	OMIM:601214
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Nail dysplasia, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic hair, Microdontia, Fur...	OMIM:148210
Dyskeratosis Congenita, Digenic	Failure to thrive, Sparse eyelashes, Alopecia, Abnormality of the dentition, Bilateral ptosis, Na...	OMIM:620040
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Idiopathic Trachyonychia	Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail...	ORPHA:79153
Tuberculosis	Weight loss	ORPHA:3389
Flotch Syndrome	Blepharitis, Sparse eyelashes, Abnormal eyelash morphology, Abnormality of the nail, Abnormal eye...	ORPHA:2045
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Wide mouth, Failure to thrive, Low anterior hairline, Diastema, Scoliosis, Downturned corners of ...	ORPHA:329224
Incontinentia Pigmenti	Nail dysplasia, Kyphoscoliosis, Sparse hair, Supernumerary nipple, Alopecia, Hypodontia, Hemivert...	OMIM:308300
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Hyperkeratosis with erythema, Sparse hair	OMIM:118650
Classic Mycosis Fungoides	Abnormality of the nail, Abnormal eyelid morphology, Alopecia	ORPHA:2584
Cohen Syndrome	Kyphosis, Gingival overgrowth, Low anterior hairline, Thick eyebrow, Aplasia/Hypoplasia of the to...	ORPHA:193
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Blepharitis, Ectropion, Sparse eyebrow, Sparse eyelashes, Nail dystrophy, Dystrophic fingernails,...	OMIM:308800
Intellectual Disability, Buenos-Aires Type	High palate, Dental malocclusion, Open bite, Abnormal fingernail morphology, Downslanted palpebra...	ORPHA:3079
Focal Facial Dermal Dysplasia Type Ii	Sparse eyebrow, Trichiasis, Curved linear dimple below the lower lip, Distichiasis, Generalized h...	ORPHA:398173
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Sparse hair	OMIM:614940
Luo-Schoch-Yamamoto Syndrome	Wide mouth, Narrow mouth, Ectropion of lower eyelids, Failure to thrive, Short philtrum, Long eye...	OMIM:619460
Rodrigues Blindness	Fine hair, Sparse hair	OMIM:268320
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Long eyelashes	OMIM:616069
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	High palate, Failure to thrive, Decreased body weight, Long palpebral fissure, Short neck, Long p...	OMIM:617452
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Abnormality of the vertebral column, Scol...	OMIM:308205
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Narrow mouth, Kyphoscoliosis, Sparse eyebrow, Sparse eyelashes, Telecanthus, E...	ORPHA:75496
Trisomy 20P	Abnormality of the dentition, Coarse hair, Short philtrum, Short neck, Microdontia, Platyspondyly...	ORPHA:261318
Piebaldism	Hypopigmentation of hair, Long philtrum, White eyebrow, White eyelashes, Synophrys, Piebaldism, W...	ORPHA:2884
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Frontal upsweep of hair, Widely spaced teeth, Long eyelashes, Synophrys, Exaggerated cupid's bow,...	OMIM:619286
Clark-Baraitser syndrome	Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Scoliosis, Downs...	OMIM:300602
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Narrow mouth, Oral mucosal blisters, Alopecia, Abnormal esophagus morphology, Spo...	OMIM:226600
Coffin-Siris Syndrome 9	Sparse scalp hair, High palate, Hypertrichosis, Hypoplastic fifth fingernail, Short palpebral fis...	OMIM:615866
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Chanarin-Dorfman Syndrome	Ectropion, Everted lower lip vermilion, Alopecia	OMIM:275630
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Tongue atrophy	ORPHA:496689
Desbuquois Syndrome	Short neck, Abnormal eyelash morphology, Scoliosis, Sparse hair	ORPHA:1425
Costello Syndrome	Hypoplastic toenails, Narrow palate, Woolly hair, Macroglossia, Abnormality of the dentition, Sho...	ORPHA:3071
Kennerknecht syndrome	High palate, Abdominal obesity, Malrotation of colon, Hypodontia, Short neck, Thoracolumbar scoli...	OMIM:600908
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sparse scalp hair, Hypoplastic toenails, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Alopec...	ORPHA:544488
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Neonatal death, Absent fingernail, Alopecia totalis, Natal tooth	OMIM:609638
Roifman Syndrome	Irregular vertebral endplates, Biconvex vertebral bodies, Long palpebral fissure, Long philtrum, ...	OMIM:616651
Short Syndrome	Sparse hair, Alopecia, Abnormality of the dentition, Microdontia, Telecanthus, Weight loss, Abnor...	ORPHA:3163
Ichthyosis, Congenital, Autosomal Recessive 2	Ectropion, Everted lower lip vermilion, Alopecia, Abnormal hair morphology, Thin nail, Small nail	OMIM:242100
Bachmann-Bupp Syndrome	Sparse scalp hair, High palate, Absent eyebrow, Sparse eyelashes, Downslanted palpebral fissures,...	OMIM:619075
Johanson-Blizzard Syndrome	Anal atresia, Malabsorption, Failure to thrive, Alopecia, Abnormality of the dentition, Oligodont...	ORPHA:2315
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hyperconvex fingernails, Hypoplastic fingernail, Abnormal dental enamel morphology, Ptosis	ORPHA:257
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Vertebral segmentation defect, Kyphosis, Sparse hair, Alopecia, Upslanted palpebral fissure, Scol...	ORPHA:1005
Focal Dermal Hypoplasia	Hiatus hernia, Sparse hair, Cleft palate, Delayed eruption of teeth, Anteriorly placed anus, Clef...	OMIM:305600
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp	OMIM:602540
Autosomal Dominant Robinow Syndrome	Alopecia, Hemivertebrae, Short philtrum, Short neck, Fingernail dysplasia, Downslanted palpebral ...	ORPHA:3107
Vogt-Koyanagi-Harada Disease

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us