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:
N

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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