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 (1461 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		Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931

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

Disease	Matching phenotypes	Source
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Striate Palmoplantar Keratoderma	Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail	OMIM:607654
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hypotrichosis 2	Abnormality of the nail, Sparse scalp hair	OMIM:146520
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
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, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Follicular hyperkeratosis, Brittle hair	OMIM:618546
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ...	ORPHA:573
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair	OMIM:607903
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Hidrotic Ectodermal Dysplasia	Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse...	ORPHA:189
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Brittle hair, Pl...	OMIM:104100
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Ab...	ORPHA:2722
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis, Curly hair	OMIM:620411
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Abnormality of the dentition, Dystroph...	OMIM:614929
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo...	OMIM:602400
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Clouston Syndrome	Abnormality of the dentition, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, ...	OMIM:129500
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Cleft lip, Sparse body hair, Congenital onychodystrophy, Nail dys...	ORPHA:2890
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Ectodermal Dysplasia 13, Hair/Tooth Type	Downslanted palpebral fissures, Thin eyebrow, Brittle hair, Sparse eyelashes, Low anterior hairli...	OMIM:617392
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate	OMIM:600331
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Carvajal Syndrome	Patchy palmoplantar hyperkeratosis, Woolly hair	ORPHA:65282
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Aredyld	Generalized hypotrichosis	OMIM:207780
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type	Dystrophic fingernails, Absent toenail, Sparse scalp hair	OMIM:614927
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail, Anhidrosis	OMIM:619209
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Absent eyebrow, Sparse scalp hair, Sparse eyelashes	OMIM:620199
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai...	OMIM:194300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Sparse body hair, Gingivitis, ...	ORPHA:1008
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair	ORPHA:1883
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Failure to thrive, Upslanted palpebral fissure, Epicanthus, Brittle hair, High palate	ORPHA:50812
Candidiasis, Familial, 1	Alopecia, Premature loss of teeth	OMIM:114580
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Tooth malposition, Horizontal eyebrow, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure...	OMIM:618608
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Progeroid Syndrome, Petty Type	Failure to thrive, Tooth agenesis, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irr...	ORPHA:2963
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Bifid uvula, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Ope...	OMIM:617412
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Peeling Skin Syndrome 1	Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, Brittle hair	OMIM:270300
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair	OMIM:614940
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Fundic gland polyposis, Oligodontia, Sparse axillary hair, Abs...	OMIM:608615
Trichohepatoenteric Syndrome 2	Sparse hair, Failure to thrive, Trichorrhexis nodosa, Villous atrophy, Uncombable hair, Brittle h...	OMIM:614602
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Naxos Disease	Palmoplantar keratoderma, Hyperhidrosis, Curly hair, Abnormality of hair texture, Woolly hair, Sp...	ORPHA:34217
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Thin eyebrow, Sparse eye...	OMIM:612841
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal dental morphology, Abnormal toenail morphology, Hypodontia, Aplasia/Hy...	ORPHA:1818
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy	Absent eyelashes, Absent eyebrow, Absent hair	OMIM:308830
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Cleft lip, Cleft upper lip, Sparse eyelashes, Anodontia, Nail dysplasia...	OMIM:225060
Trichodermodysplasia-Dental Alterations Syndrome	Sparse lateral eyebrow, Fine hair, Delayed eruption of teeth, Tooth agenesis, Abnormal dental mor...	ORPHA:3353
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse...	OMIM:129490
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Zimmermann-Laband Syndrome 3	Bifid uvula, Facial hypertrichosis, Small nail, Hypertrichosis, Thick lower lip vermilion, Long e...	OMIM:618658
Alazami-Yuan Syndrome	Highly arched eyebrow, Dental crowding, Long philtrum, Long eyelashes, Thick eyebrow, Narrow mout...	OMIM:617126
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Long philtrum, Nail dystrophy, Upslanted palpebral fissure, Everted lower ...	ORPHA:75389
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Zimmermann-Laband Syndrome 2	Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Gingival overgrowth, Hirsutism, Short ne...	OMIM:616455
Coffin-Siris Syndrome 8	Failure to thrive, Hypertrichosis, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Thin...	OMIM:618362
L-Ferritin Deficiency	Alopecia	OMIM:615604
Olmsted Syndrome 2	Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos...	OMIM:619208
Pierre Robin Sequence With Facial And Digital Anomalies	Hyperconvex nail, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Dystrophic toenail, Macrodontia, Agenesis of permanent teeth, Sparse or absent eyelashes, Irregul...	OMIM:602401
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Conical tooth, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Widely spaced primary teeth, Tiger tail banding, Slo...	OMIM:300953
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Kyphosis, Patchy alopecia, Blepharophimosis, Horn...	OMIM:141300
Jaberi-Elahi Syndrome	Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Triangular mouth, Brittle hair, S...	OMIM:617988
Craniolenticulosutural Dysplasia	Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, Posterior wedging of verteb...	ORPHA:50814
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Coarse hair, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Nar...	OMIM:219200
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat...	OMIM:150400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal fingernail morph...	ORPHA:2325
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Alopecia, Long eyelashes, Sparse hair, Small for gestational age	ORPHA:3363
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Netherton Syndrome	Brittle scalp hair, Sparse eyebrow, Parakeratosis, Brittle hair, Sparse scalp hair	OMIM:256500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Sp...	ORPHA:1882
Oliver-Mcfarlane Syndrome	Alopecia, Long eyelashes, Long eyebrows, Sparse hair, Small for gestational age	OMIM:275400
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal...	ORPHA:90368
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Meckel diverticulum, Failure to thrive, Trichorrhexis nodosa, Tiger t...	OMIM:616395
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig...	ORPHA:79414
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Upslanted palpebral fissure, Nail dystrophy, Epicanthus, Brittle hair, Macroglossia	ORPHA:93947
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Slow-growing hair, Brittle hair	OMIM:616943
Porphyria, Congenital Erythropoietic	Alopecia, Hypertrichosis, Erythrodontia, Loss of eyelashes, Absent eyebrow, Conjunctivitis, Verte...	OMIM:263700
Focal Facial Dermal Dysplasia 1, Brauer Type	Distichiasis, Sparse lateral eyebrow	OMIM:136500
Focal Facial Dermal Dysplasia 3, Setleis Type	Thick upper lip vermilion, Low anterior hairline, Epicanthus, Distichiasis, Anal atresia, Sparse ...	OMIM:227260
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Kerion Celsi	Alopecia	ORPHA:499
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Large clumps of pigment irregularly...	OMIM:214450
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Weight loss, Abnormal e...	ORPHA:2221
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Abnormal dental ...	ORPHA:2251
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp, Amelogenesis imperfecta	ORPHA:79129
Atopic Keratoconjunctivitis	Allergic conjunctivitis, Loss of eyelashes, Chemosis, Conjunctival hyperemia, Keratoconjunctiviti...	ORPHA:163934
Nicolaides-Baraitser Syndrome	High, narrow palate, Highly arched eyebrow, Alopecia, Scoliosis, Short palpebral fissure, Long ph...	ORPHA:3051
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Downturned corners of mouth, Thick upper lip vermilion, Low anterior hair...	ORPHA:79133
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair	ORPHA:2574
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Intestinal obstr...	OMIM:601675
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Furrowed tongue, ...	ORPHA:2930
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Dental crowding, Failure to thrive, Biconcave vertebral bodies, Kyphoscoliosis, Brittle hair, Hig...	OMIM:236200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Alopecia, Failure to thrive, Spinal rigidity	ORPHA:337
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome	Absent eyelashes, Absent eyebrow	ORPHA:2339
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Cardiofaciocutaneous Syndrome	Fine hair, Long philtrum, Failure to thrive in infancy, Downslanted palpebral fissures, Aplasia/H...	ORPHA:1340
Proliferating Trichilemmal Cyst	Sparse scalp hair	ORPHA:492
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Cheilitis, Abnormality of ...	ORPHA:129
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Abnormality of the dentition, Alopecia, Nail dystrophy, Oral mucosal blisters, Nail dysplasia	ORPHA:79397
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Sparse eyebrow, Absent nipple, Conical tooth, Everted upper lip ...	OMIM:305100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Sparse eyebrow, Narrow mouth, Brittle hair	OMIM:618810
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair	OMIM:616390
Catel-Manzke Syndrome	Highly arched eyebrow, Failure to thrive, Oral synechia, Glossoptosis, Scoliosis, Cleft palate	ORPHA:1388
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Woolly hair, Hyperkeratosis...	OMIM:615821
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai...	OMIM:613102
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Telecanthus, Thoracic kyphoscol...	OMIM:203550
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca...	OMIM:613981
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Thick vermilion border, Oligodontia, Hypodontia, Ename...	OMIM:619184
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, Posterior wedg...	OMIM:607812
Tristichiasis	Three rows of eyelashes	OMIM:190800
Distichiasis	Distichiasis	OMIM:126300
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Palmoplantar ...	OMIM:167210
Flynn-Aird Syndrome	Alopecia, Carious teeth, Alopecia of scalp, Kyphoscoliosis	OMIM:136300
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Dystrophic toenail, Delayed eruption of teeth, Nocturnal lagophthalmos, Impacted...	ORPHA:740
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Carious teeth, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarri...	OMIM:612843
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy alopecia, Enamel hypopla...	OMIM:226650
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Downturned corners of mouth, Downslanted palpebral...	ORPHA:1807
Trichomegaly	Long eyelashes	OMIM:190330
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Hypodontia, Aplasia/Hypoplasia of the eyebrow, Sparse ...	ORPHA:50944
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Alopecia, Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Thi...	ORPHA:2636
Tetrasomy 12P	Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Ectropion, Alopecia, Everted lower lip vermilion	OMIM:242510
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Downturned corners of mouth, Downslanted palpebral fissures, Long eyelashe...	OMIM:300590
Hypomelanosis Of Ito	Alopecia, Thick lower lip vermilion, Epicanthus, Irregularly spaced teeth, Scoliosis, Kyphosis	OMIM:300337
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr...	OMIM:224750
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dental crowding, Narrow mouth, Brittle hair, High palate, Sparse hair, Hypoplasia of te...	OMIM:608612
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Upslanted palpebral fissure, Kyphoscoliosis, Severe failure to thrive, Coronal cleft ve...	OMIM:215100
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft palate, Euryblepharon, Distichiasis, Abnormal eyeli...	ORPHA:1997
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Erythrodontia, Loss of eyelashes, Keratoconjuncti...	ORPHA:95159
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Abnormal hair morphology, Parakeratosis, H...	OMIM:604117
Developmental And Epileptic Encephalopathy 23	Long eyelashes, Thick eyebrow, Telecanthus, Low anterior hairline, Everted lower lip vermilion, T...	OMIM:615859
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Prema...	OMIM:619816
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Carious teeth, Abnormality of the dentition, Sparse lateral eyeb...	ORPHA:3253
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Orofaciodigital Syndrome Type 1	Open bite, Epicanthus, Brittle hair, High palate, Sparse hair, Accessory oral frenulum, Alopecia,...	ORPHA:2750
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Hypohidrosis, Hyper...	ORPHA:1028
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Abnormal form of the vertebral bodies, Fine hair, Non-midli...	ORPHA:2710
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair	OMIM:618625
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Blepharitis, Failure to thrive, Abnormal eyebrow morphology, Ridged ...	ORPHA:37
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar...	OMIM:604536
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Coffin-Siris Syndrome 3	Long philtrum, Hypertrichosis, Long eyelashes, Thick eyebrow, Wide mouth, Hirsutism, Cleft palate...	OMIM:614608
Blepharocheilodontic Syndrome 1	High anterior hairline, Conical tooth, Small nail, Cleft upper lip, Nail dysplasia, Distichiasis,...	OMIM:119580
Renpenning Syndrome	High, narrow palate, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Macrodontia, Narrow m...	ORPHA:3242
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys	ORPHA:1021
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Scoliosis	OMIM:615704
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, ...	ORPHA:163654
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Sparse hair, Trichoepithelioma	OMIM:301845
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Open bite, Abnormal palate morphology, Cachexia, Pt...	ORPHA:2471
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Alopecia, Sparse body hair, Epicanthus, Spina bifida occulta, Scoli...	ORPHA:177
Coffin-Siris Syndrome 5	Dystrophic toenail, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Hypoplastic toenail...	OMIM:616938
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Sparse lateral eyebrow, Unilateral cleft lip, Abnormal form of the vertebral...	ORPHA:1787
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Tracheoesophageal fistula, Sparse hair	ORPHA:1839
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat...	OMIM:257980
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Large for gestational age, Telecanthus, Cuboid-shaped vertebr...	OMIM:612731
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Failure to thrive, Nail dystrophy, Sparse hair, Premat...	OMIM:616353
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Decreased body...	OMIM:602535
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Fine hair, Thick lower lip vermilion, Tented upper lip vermilion, Upslanted p...	OMIM:615828
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Upslanted p...	ORPHA:140936
Hypertrichosis Cubiti	Downslanted palpebral fissures, Thick eyebrow, Generalized hirsutism, Abnormal nasolacrimal syste...	ORPHA:2220
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Tooth agenesis, Nail dysplasia, Distichiasis, Euryblepharon, Ectropion ...	OMIM:617681
Trichohepatoenteric Syndrome 1	Sparse hair, Bifid uvula, Failure to thrive, Fine hair, Long philtrum, Trichorrhexis nodosa, Down...	OMIM:222470
Rapp-Hodgkin Syndrome	Carious teeth, Small nail, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopec...	OMIM:129400
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis, Sparse scalp hair	ORPHA:2850
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Downturned corners of mouth, Fine hair, Long eyelashes, Upslanted palpebr...	ORPHA:231137
Hall-Riggs Syndrome	Platyspondyly, Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Failure to th...	ORPHA:2107
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Horizontal eyebrow, Everted upper lip vermilion, Hypertrichosis, Long eyelashes, Thick eyebrow, W...	OMIM:618381
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Long eyelashes, Narrow mouth, Deep philtrum, Ovoid vert...	OMIM:102370
Craniodigital-Intellectual Disability Syndrome	Long eyelashes, Thick eyebrow, Generalized hirsutism, Abnormal hair pattern, Thick hair, Spina bi...	ORPHA:1514
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Long eyel...	OMIM:300882
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Absent...	OMIM:607823
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Sparse eyebrow, Hypoplasia of the odontoid process, Thoracolumbar kypho...	OMIM:252500
Coffin-Siris Syndrome 2	Small nail, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long eyelashes, ...	OMIM:614607
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Abnormal sacral segmentation, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Thic...	ORPHA:480907
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormality of the nail	ORPHA:317
Rombo Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology	OMIM:180730
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Carious teeth, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onych...	OMIM:614564
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Rapadilino Syndrome	High, narrow palate, Sparse eyebrow, Sparse eyelashes, Blepharophimosis, Narrow palpebral fissure...	OMIM:266280
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Lower eyelid coloboma, Delayed eruption of primary teeth, Sparse eyela...	OMIM:616367
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Sparse eyelashes, Oligodonti...	ORPHA:59303
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Erythrodontia, Loss of eyelashes, Keratoconjuncti...	ORPHA:79277
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse eyebrow, Selective tooth agenesis, Widely spaced teeth, Sparse eyelashes, Microdontia, Spa...	OMIM:225280
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Distichiasis, High palate, Scoliosis, Kyphosis	ORPHA:2598
Leprosy	Alopecia, Paralytic lagophthalmos, Sparse body hair, Loss of eyelashes, Absent eyebrow	ORPHA:548
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Kury-Isidor Syndrome	Alopecia, Long philtrum, Hypertrichosis, Widely spaced teeth, Downslanted palpebral fissures, Ten...	OMIM:619762
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Nail dysplasia	OMIM:212360
Trichothiodystrophy	Aplasia/Hypoplasia of the nails, High, narrow palate, Carious teeth, Ectropion, Ridged nail, Tige...	ORPHA:33364
Copper Deficiency, Familial Benign	Early balding, Curly hair	OMIM:121270
Rubinstein-Taybi Syndrome 2	Highly arched eyebrow, Narrow palate, Carious teeth, Dental malocclusion, Downslanted palpebral f...	OMIM:613684
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology	ORPHA:494
Whistling Face Syndrome, Recessive Form	Whistling appearance, Short palpebral fissure, Microglossia, Long philtrum, Telecanthus, Narrow m...	OMIM:277720
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Everted lower lip vermilion, Ectropion, Sparse hair	OMIM:242300
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Failure to thrive in infancy, Submucous cleft hard palate, Brittle hair, Sparse hair, ...	OMIM:618891
Orofacial Cleft 15	Sparse eyebrow, High anterior hairline, Palate fistula, Upslanted palpebral fissure, Bilateral cl...	OMIM:616788
Johnson Neuroectodermal Syndrome	Alopecia, Carious teeth, Failure to thrive, Downslanted palpebral fissures, Absent eyelashes, Abs...	ORPHA:2316
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Abnormal eyebrow morphology, Long eyelashes, Narrow mou...	ORPHA:969
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Epicanthus, Hypoplasia of teeth, Scoliosis, Accessory oral frenulum	ORPHA:88630
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Abnormal form of the vertebral bodies, Cleft palate	ORPHA:3104
Waardenburg Syndrome Type 1	White hair, Premature graying of hair, Abnormal hair morphology, Cleft upper lip, Telecanthus, Th...	ORPHA:894
Microtriplication 11Q24.1	Long eyelashes, Thick eyebrow, Obesity, Upslanted palpebral fissure, Smooth philtrum, Short neck,...	ORPHA:289522
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Failure to thrive, Tooth agenesis, Nail dystrophy, Sparse eyelashes, Wo...	OMIM:605676
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Monosomy 18P	Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Kyphoscoliosis, Low post...	ORPHA:1598
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Nail dystrophy	OMIM:601957
Flynn-Aird Syndrome	Alopecia, Carious teeth, Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Wiedemann-Steiner Syndrome	Low posterior hairline, Elbow hypertrichosis, Generalized hirsutism, Epicanthus, Blepharophimosis...	OMIM:605130
Cantu Syndrome	Platyspondyly, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Long eyelashe...	OMIM:239850
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, White forelock, Intestinal o...	ORPHA:897
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Downturned corners of mouth, Fine hair, Downslanted palpebral fiss...	OMIM:616817
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Tented ...	OMIM:620075
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Fine hair, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Wide mou...	OMIM:620250
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Ptosis, Hypopigmentation of hair	ORPHA:1067
Fanconi Anemia, Complementation Group S	Dental malocclusion, Failure to thrive, Thick upper lip vermilion, Macrodontia, Long eyelashes, U...	OMIM:617883
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Failure to thrive, Onychog...	ORPHA:2309
Zimmermann-Laband Syndrome	Bifid uvula, Facial hypertrichosis, Hypoplastic fingernail, Downslanted palpebral fissures, Long ...	ORPHA:3473
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Conical tooth, Everted upper lip vermilion, Anodontia, Sparse eyelashes, Oligodon...	OMIM:224900
Temple-Baraitser Syndrome	Everted upper lip vermilion, Absent toenail, Open mouth, Epicanthus, Everted lower lip vermilion,...	ORPHA:420561
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Alopecia, Carious teeth, Kyphoscoliosis	OMIM:612079
Distal Duplication 6P	Fine hair, Narrow mouth, Short neck, Ptosis, Blepharophimosis, Abnormal hair quantity, Thin vermi...	ORPHA:1745
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyelashes, Absent eyebrow	OMIM:182815
Blepharonasofacial Malformation Syndrome	Sparse lateral eyebrow, Long philtrum, Tooth agenesis, Telecanthus, Low posterior hairline, Epica...	ORPHA:1252
Oculocerebrocutaneous Syndrome	Alopecia, Eyelid coloboma, Cleft palate, Orbital cyst	OMIM:164180
Craniofrontonasal Dysplasia	Abnormality of the dentition, Ridged fingernail, Downslanted palpebral fissures, Low posterior ha...	ORPHA:1520
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Alopecia, Xerostomia, Nail dystrophy, Nail dysplasia, Cachexia, Gloss...	OMIM:175500
2Q32Q33 Microdeletion Syndrome	Dental crowding, Fine hair, Long philtrum, Downslanted palpebral fissures, Narrow mouth, Oligodon...	ORPHA:251019
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Abnormal toenail morphology, Low posterior hairline, Short ph...	ORPHA:1387
Neuroocular Syndrome 1	Hooded upper eyelid, Small nail, Ankyloglossia, Torus palatinus, Brittle hair, Downturned corners...	OMIM:619539
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Abnormality of the dentition, Alopecia, Supernumerary nipple, Epic...	ORPHA:3224
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Upper eyelid edema, Hirsutism, Low anterior hairline, Everted lowe...	OMIM:616819
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Abnormal ...	ORPHA:659
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair	ORPHA:1660
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Lichen Planopilaris	Alopecia, Neoplasm of the oral cavity, Abnormal fingernail morphology, Pterygium, Abnormal intest...	ORPHA:525
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long eyelashes, Generalized hirsutism,...	ORPHA:238750
Waardenburg Syndrome, Type 4B	Premature graying of hair, White forelock, Aganglionic megacolon, White eyebrow, White eyelashes	OMIM:613265
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar...	OMIM:300918
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Sparse eyelashes, Hypoplastic sweat glands, Oligo...	OMIM:601345
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse eyelashes, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Sparse eyebrow, Long ey...	OMIM:619293
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, ...	OMIM:619451
Braddock-Carey Syndrome 1	Anteriorly placed anus, Downslanted palpebral fissures, Telecanthus, Thick vermilion border, Enam...	OMIM:619980
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Sparse...	ORPHA:370079
Weaver Syndrome	Fine hair, Long philtrum, Abnormal fingernail morphology, Downslanted palpebral fissures, Hypopla...	ORPHA:3447
Non-Distal Duplication 13Q	Abnormality of the dentition, Long philtrum, Abnormal fingernail morphology, Thick eyebrow, Hypop...	ORPHA:1702
Intellectual Developmental Disorder, Autosomal Dominant 34	Coarse hair, Widely spaced teeth, Bilateral ptosis, Upslanted palpebral fissure, Smooth philtrum,...	OMIM:616351
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro...	ORPHA:251393
Bartsocas-Papas Syndrome	Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes, Narrow mouth,...	ORPHA:1234
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Scoliosis, Downturned corners of mouth, Fine hair, Long philtrum, Downslanted palpebral fissures,...	ORPHA:391408
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair, Abnormal dental enamel morphology, Abnormal palate morphology, Epicanthus, Ptosis, Ble...	ORPHA:3236
Argininosuccinic Aciduria	Trichorrhexis nodosa, Dry hair, Brittle hair	OMIM:207900
Intellectual Developmental Disorder, Autosomal Recessive 61	Highly arched eyebrow, Conical tooth, Long eyelashes, Thick eyebrow, Thick hair, High palate, Sco...	OMIM:617773
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Highly arched eyebrow, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Hirsutism, Low a...	ORPHA:466688
Piebald Trait-Neurologic Defects Syndrome	Aganglionic megacolon, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash mo...	ORPHA:2885
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Pulmonary Blastoma	Weight loss	ORPHA:64741
Alpha-Heavy Chain Disease	Alopecia, Abnormal small intestine morphology	ORPHA:100025
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Telecanthus, Low anterior ...	OMIM:618828
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Upslanted palpebral fissure, Abnormal palat...	ORPHA:3241
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Radio-Tartaglia Syndrome	Small nail, Epicanthus, Narrow palpebral fissure, Long eyebrows, High palate, High, narrow palate...	OMIM:619312
Macs Syndrome	Eclabion, Alopecia, Sparse eyebrow, Long philtrum, Downslanted palpebral fissures, Recurrent apht...	OMIM:613075
2Q23.1 Microduplication Syndrome	Highly arched eyebrow, Abnormality of the dentition, Dental crowding, Bilateral ptosis, Long eyel...	ORPHA:313947
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:181
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Ectropion, Eclabion, Sparse hair	ORPHA:100976
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Long eyelashes, Thick eyebrow, Telecanthus, Low anterior hairline, Everted lower lip vermilion, A...	ORPHA:411986
Bresek Syndrome	Alopecia, Neonatal death, Aganglionic megacolon, Hemivertebrae, Scoliosis, Cleft palate	ORPHA:85284
Man1B1-Cdg	Eclabion, Sparse eyebrow, Abnormal position of hair whorl, Downslanted palpebral fissures, Long e...	ORPHA:397941
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Abcd Syndrome	Large for gestational age, Neonatal death, Aganglionic megacolon, White eyebrow, White eyelashes,...	OMIM:600501
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Downturned corners of mouth, Volvulus, Diastema, Downslanted palpebral fis...	OMIM:615009
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Cerebrofaciothoracic Dysplasia	Coarse hair, Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Vertebral segmentati...	ORPHA:1394
Intestinal Dysmotility Syndrome	Broad philtrum, Weight loss, Failure to thrive, High palate	OMIM:620045
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Sacral dimple, Long eyelashes, Narrow mouth, Epicanthus, Thin vermilion border, In...	OMIM:615502
Congenital Ichthyosiform Erythroderma	Ectropion, Alopecia, Abnormality of the nail, Failure to thrive	ORPHA:79394
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Failure to thrive, Thin eyebrow, Long eyelashes, Wide mouth, Orofacial cleft, High palate, Scolio...	ORPHA:502434
Systemic Lupus Erythematosus 17	Alopecia, Oral ulcer	OMIM:301080
Renpenning Syndrome 1	Sparse lateral eyebrow, Macrodontia, Telecanthus, Narrow mouth, Upslanted palpebral fissure, Thin...	OMIM:309500
Giant Axonal Neuropathy	Pili canaliculi, Limb muscle weakness, Abnormality of the Achilles tendon, Facial palsy, Woolly hair	ORPHA:643
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Tooth agenesis, Downslanted palpebral fissures, Long eyelashes, Abnorm...	ORPHA:2863
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Alopecia, Fine hair, Telecanthus, Upslanted palpebra...	ORPHA:228390
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair	OMIM:619691
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Noonan Syndrome 5	Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures, Large for gestational age,...	OMIM:611553
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Sparse eyebrow, Long philtrum, Leukonychia, Supernumerary tooth, Sp...	ORPHA:77258
Aredyld Syndrome	Sparse body hair, Abnormal dental enamel morphology, Narrow mouth, Upslanted palpebral fissure, S...	ORPHA:1133
Leopard Syndrome 2	Downslanted palpebral fissures, Thick lower lip vermilion, Epicanthus, Short neck, Curly hair	OMIM:611554
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Conical tooth, Absent nipple, Xerostomia, Sparse lateral eyebrow, Sparse body hair, Sparse eyelas...	OMIM:614941
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hypertrichosis, Hirsutism, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of...	OMIM:252930
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Pontocerebellar Hypoplasia Type 10	Long palpebral fissure, Highly arched eyebrow, Long eyelashes	ORPHA:411493
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Palpebral edema, Sparse scalp hair	ORPHA:69735
Oculomaxillofacial Dysostosis	Abnormality of the dentition, Sparse or absent eyelashes, Upslanted palpebral fissure, Median cle...	ORPHA:1794
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Sparse pubic hair	OMIM:146110
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Alopecia of scalp, Abno...	ORPHA:530
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Upslanted palpebral fissure, Abnormal palate morphology, Short neck, Un...	ORPHA:3082
Tietz Albinism-Deafness Syndrome	White eyebrow, White eyelashes	OMIM:103500
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Abnormal dental enamel morphology, Sparse eyelashes, Enamel hypoplasia, Thin verm...	ORPHA:139474
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Carious teeth, Long philtrum, Downslanted palpebral fissures, Long eyelashes, Obesity, Elbow hype...	OMIM:620191
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Long philtrum, Tented upper lip vermilion, Hirsutism, Low anterior hairlin...	OMIM:619244
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Conical tooth, Dystrophic toenail, Delayed eruption of teeth, Supern...	ORPHA:1071
Syndromic Diarrhea	Trichorrhexis nodosa, Villous atrophy, Gastritis, Uncombable hair, Brittle hair, Colitis, Hypopig...	ORPHA:84064
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Long philtrum, Failure to thrive in infancy, Long eyelashes, Short neck, High palate, Scoliosis	OMIM:619026
Ectodermal Dysplasia-Blindness Syndrome	Fine hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis	ORPHA:1806
3-Methylglutaconic Aciduria, Type Ix	Short neck, Long eyelashes, Failure to thrive, High palate	OMIM:617698
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Failure to thrive, Ankyloglossia, Alopecia of scalp, Bilateral cleft palate, Spar...	OMIM:618874
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Adult Syndrome	Abnormality of the dentition, Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypop...	ORPHA:978
Pontocerebellar Hypoplasia, Type 13	Volvulus, Failure to thrive, Thick upper lip vermilion, Macrodontia, Long eyelashes, Low posterio...	OMIM:618606
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair	ORPHA:2183
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Low posterior hairline, Epicanth...	OMIM:617360
Leopard Syndrome 3	Low posterior hairline, Hyperkeratosis, Epidermal hyperkeratosis, Curly hair	OMIM:613707
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Sparse or absent eyel...	ORPHA:217346
Cerebrooculonasal Syndrome	Sparse eyebrow, Long philtrum, Widely spaced teeth, Upslanted palpebral fissure, Sparse eyelashes...	ORPHA:66625
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Sparse lateral eyebrow, Long philtrum, Fine hair, Supernumerary tooth, Thin uppe...	OMIM:190351
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Palmoplantar hyperkeratosis, Hyperhidrosis, ...	OMIM:615280
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Abnormality of the dentition, Abnormal dental enamel morpholo...	ORPHA:96169
Waardenburg Syndrome, Type 2A	Premature graying of hair, White forelock, White eyebrow, White eyelashes, Albinism, Synophrys	OMIM:193510
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Downslanted palpebral fissures, Spar...	ORPHA:35173
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Delayed eruption of teeth, Anteriorly placed anus, Premature graying of...	OMIM:268400
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Weight loss, Conjunctivitis, Glossoptosis	ORPHA:47
Waardenburg Syndrome, Type 4A	Premature graying of hair, White forelock, Aganglionic megacolon, White eyebrow, White eyelashes	OMIM:277580
Incontinentia Pigmenti	Alopecia, Coarse hair, Conical tooth, Delayed eruption of teeth, Fine hair, Supernumerary nipple,...	OMIM:308300
Fibrodysplasia Ossificans Progressiva	Alopecia, Small cervical vertebral bodies, Widely spaced teeth, Progressive cervical vertebral sp...	OMIM:135100
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Acrogeria	Fine hair	ORPHA:2500
8Q22.1 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Abnormality of the dentition, Long philtrum, Telecanthus, ...	ORPHA:178303
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Alopecia, Oral leukoplakia, Failure to thrive, Bilateral ptosis, Na...	OMIM:620040
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Furrowed tongue, Nail dystrophy, Sparse eyelashes, ...	OMIM:148210
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissure...	OMIM:618089
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Ankyloblepharon, Selective tooth agenesis, Supernumerary nipple, Sparse...	OMIM:106260
Cantú Syndrome	Platyspondyly, Long philtrum, Long eyelashes, Thick eyebrow, Curly eyelashes, Low anterior hairli...	ORPHA:1517
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Conjunctival telangiectasia, Premature loss of teeth	OMIM:618373
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Downturned corners of mouth, Diastema, Failure to thrive, Downslanted palp...	ORPHA:329224
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Long philtrum, Downslanted palpebral fissures, Long eyelashes, Low posterior hairline, Thin upper...	OMIM:617523
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Alopecia totalis, Neonatal death, Anonychia, Absent fingernail	OMIM:609638
Flotch Syndrome	Abnormality of the nail, Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morpholog...	ORPHA:2045
Chanarin-Dorfman Syndrome	Ectropion, Alopecia, Everted lower lip vermilion	OMIM:275630
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Downslanted palpebral fissures, Sacral dimple, Bilateral pt...	ORPHA:544488
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Narrow mouth, Nail dystrophy, Oral mucosal blisters, Nail dysplasia, Abnormal esophagus...	OMIM:226600
Classic Mycosis Fungoides	Alopecia, Abnormal eyelid morphology, Abnormality of the nail	ORPHA:2584
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Furrowed tongue, Open mouth, Narrow mouth, Lagophthalmos, Short neck, Ptos...	OMIM:615065
Congenital Disorder Of Glycosylation, Type Iia	Thoracolumbar kyphoscoliosis, Failure to thrive, Long philtrum, Diastema, Downslanted palpebral f...	OMIM:212066
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Highly arched eyebrow, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Long eye...	OMIM:617452
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Dystrophic fingernails, Scarring alopecia of sc...	OMIM:308800
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Dental malocclusion, Fine hair, Downslanted palpebr...	ORPHA:3079
Luo-Schoch-Yamamoto Syndrome	Highly arched eyebrow, Failure to thrive, Long eyelashes, Wide mouth, Narrow mouth, Almond-shaped...	OMIM:619460
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Short palpebral fissure, Dental malocclusion,...	OMIM:257850
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Erythematous oral mucosa, Furrowed tongue, Chronic monilial nail infection...	OMIM:158310
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Widely spaced teeth, Long eyelashes, Frontal upsweep of hair, Exaggerated ...	OMIM:619286
Trisomy 20P	Low posterior hairline, Epicanthus, Short neck, Everted lower lip vermilion, Blepharophimosis, Do...	ORPHA:261318
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Downslanted palpebra...	OMIM:620107
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Developmental And Epileptic Encephalopathy 64	Highly arched eyebrow, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, Widely spaced te...	OMIM:618004
Focal Facial Dermal Dysplasia Type Ii	Trichiasis, Sparse eyebrow, Distichiasis, Ectropion of lower eyelids, Generalized hypertrichosis,...	ORPHA:398173
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse eyelashes, Absent eyelashes, Epicanthus, Absent eyebrow, Thick vermilion border,...	OMIM:137940
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal hair morphology, Abnormal finge...	ORPHA:3071
Gand Syndrome	Sparse hair	OMIM:615074
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Short palpebral fissure, Delayed eruption of teeth, Hypertrichosis, Long e...	OMIM:615866
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short palpebral fissure, Failure to thrive, Thick vermilion border, Curly hair, Almond-shaped pal...	OMIM:300986
Bachmann-Bupp Syndrome	Small nail, Downslanted palpebral fissures, Large for gestational age, Sparse eyelashes, Thin upp...	OMIM:619075
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Dental malocclusion, Sparse lateral eyebrow, Fine hair, Delayed eruption of teeth,...	OMIM:190350
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Abnormality of primary teeth, Telecanthus, Narrow mouth, Sparse eyelashes, Kyphos...	ORPHA:75496
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Ptosis	ORPHA:257
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Downslanted palpebral fissures, Obes...	OMIM:300602
Piebaldism	Long philtrum, White forelock, Aganglionic megacolon, White eyebrow, White eyelashes, Piebald ski...	ORPHA:2884
Autosomal Recessive Robinow Syndrome	Open bite, Ankyloglossia, Epicanthus, Short neck, Alopecia, Downturned corners of mouth, Downslan...	ORPHA:1507
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Kyphoscoliosis	ORPHA:496689
Autosomal Dominant Robinow Syndrome	Onychogryposis of fingernail, Open bite, Anodontia, Epicanthus, Short neck, Euryblepharon, High, ...	ORPHA:3107
Desbuquois Syndrome	Abnormal eyelash morphology, Short neck, Sparse hair, Scoliosis	ORPHA:1425
Short Syndrome	Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Telecanthus, Microdont...	ORPHA:3163
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Hypodontia, Enamel hypoplasia, Thick hai...	OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Small nail, Abnormal hair morphology, Everted lower lip vermilion, Thin nail, Ectropion	OMIM:242100
Vogt-Koyanagi-Harada Disease	Premature graying of hair, Abnormal eyebrow morphology, Abnormal eyelash morphology, Poliosis, Sp...	ORPHA:3437
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Upslanted palpebral fissure, Vertebral segmentation ...	ORPHA:1005
X-Linked Intellectual Disability, Cabezas Type	Thick lower lip vermilion, Open bite, Downslanted palpebral fissures, Obesity, Short philtrum, Ep...	ORPHA:85293
Birk-Barel Syndrome	Bifid uvula, Highly arched eyebrow, Long eyelashes, Tented upper lip vermilion, Submucous cleft s...	OMIM:612292
Epilepsy, Progressive Myoclonic, 9	Microglossia, Scoliosis	OMIM:616540
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Anteriorly placed anus, Failur...	ORPHA:2315
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Microdontia, Pili torti, Frag...	OMIM:261990
Roifman Syndrome	Prominent eyelashes, Downturned corners of mouth, Long philtrum, Biconvex vertebral bodies, Downs...	OMIM:616651
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse scalp hair	OMIM:602540
Oculopharyngodistal Myopathy	High, narrow palate, Difficulty in tongue movements, Progressive ptosis, Weight loss, High palate	ORPHA:98897
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern	ORPHA:1867
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Ectropion, Breast aplasia, Telecanthus, Sparse or a...	ORPHA:1231
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Koolen-De Vries Syndrome	Open mouth, Epicanthus, Everted lower lip vermilion, Blepharophimosis, High palate, Small for ges...	OMIM:610443
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Highly arched eyebrow, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Long eye...	ORPHA:505237
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Dental malocclusion, Downslanted palpebral fissures, Bila...	OMIM:610733
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Cervical kyphosis, Pursed lips, Lumbar hyperlordosis, Long eyelashes in irregular ...	OMIM:255800
Focal Dermal Hypoplasia	Supernumerary nipple, Absent toenail, Brittle hair, Sparse hair, Ridged nail, Oligodontia, Nail d...	OMIM:305600
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Narrow mouth, Cachexia, Weight loss	ORPHA:1979
Pemphigus Vulgaris	Erosion of oral mucosa, Weight loss, Alopecia of scalp, Oral mucosal blisters	ORPHA:704
Noonan Syndrome 6	Downslanted palpebral fissures, Bilateral ptosis, Low posterior hairline, Epicanthus, Short neck,...	OMIM:613224
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Downturned corners of mouth, Epicanthus, Ptosis, Thick vermilion border, Spina bifid...	ORPHA:1185
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia	OMIM:616576
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Alopecia, Spinal canal stenosis, High palate	OMIM:618282
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Tonne-Kalscheuer Syndrome

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