Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger, DHHC domain containing 21
Synonyms:
dep,  D130004H04Rik,  9130404H11Rik

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 Zdhhc21 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc21 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypotrichosis 2
Abnormality of the nail, Sparse scalp hair OMIM:146520
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis ORPHA:505
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... OMIM:158000
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Aredyld
Generalized hypotrichosis OMIM:207780
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair OMIM:607903
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n... OMIM:614237
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Palmoplantar Keratoderma, Epidermolytic, 2
Palmoplantar hyperkeratosis, Curly hair OMIM:620411
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... ORPHA:1818
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... OMIM:104100
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
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
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Follicular hyperkeratosis, Brittle hair OMIM:618546
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse... OMIM:129490
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai... OMIM:194300
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... ORPHA:2251
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Hyperkeratosis, Thin nail, Sparse hair, Cafe-au... OMIM:618625
Ectodermal Dysplasia 5, Hair/Nail Type
Dystrophic fingernails, Absent toenail, Sparse scalp hair OMIM:614927
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail, Anhidrosis OMIM:619209
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai... OMIM:224750
L-Ferritin Deficiency
Alopecia OMIM:615604
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Hyperhidrosis OMIM:613576
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Naxos Disease
Palmoplantar keratoderma, Hyperhidrosis, Curly hair, Abnormality of hair texture, Woolly hair, Sp... ORPHA:34217
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo... OMIM:602400
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... OMIM:604536
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Sparse body hair, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sp... OMIM:618535
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... OMIM:619208
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Alopecia, Nail dystrophy OMIM:616487
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia... ORPHA:79402
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Hypertrichosis OMIM:617524
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Follicular... OMIM:613102
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation,... ORPHA:1810
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... ORPHA:79397
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Hy... ORPHA:1660
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Congenital onychodyst... ORPHA:2890
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair ORPHA:1883
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:1006
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Hypohidrosis, Spars... OMIM:301845
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair, Pigmentary retinopathy ORPHA:3363
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis, Sparse body hair ORPHA:181
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Sparse hair OMIM:242300
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Palmoplantar ... OMIM:167210
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Woolly hair, Hyperkeratosis... OMIM:615821
Eem Syndrome
Absent eyebrow, Abnormality of retinal pigmentation, Sparse scalp hair, Sparse body hair ORPHA:1897
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Parakeratosis, Hypohidrosis, Palmoplantar hyperkeratosis, Sparse hair ORPHA:100976
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Gand Syndrome
Sparse hair OMIM:615074
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair ORPHA:2183
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Dystrophic toenail, Sparse or absent eyelashes, Dystrophic fingernails, Hypohidrosis, Aplasia/Hyp... OMIM:602401
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Abnormal hair morphology, Parakeratosis, H... OMIM:604117
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Hypohidrosis, Hyper... ORPHA:1028
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair ORPHA:631
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... OMIM:257980
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair OMIM:614602
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair ORPHA:59303
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Peeling Skin Syndrome 1
Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, Brittle hair OMIM:270300
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse... OMIM:602540
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i... OMIM:618531
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Hyperpigmentation of the skin, Brittle hair ORPHA:50812
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Palmoplantar hyperkerat... OMIM:615280
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Sparse... ORPHA:1806
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Palmoplanta... OMIM:605676
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Hyperhidrosis, Curly hair OMIM:615279
Hypotrichosis 3
Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca... OMIM:613981
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Anhidrosis, Periorbital hyperpigmentation, Sparse... OMIM:224900
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, Hyperhidrosis, High anterior hairline ORPHA:231137
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo... OMIM:614941
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Filippi Syndrome
Frontal hirsutism, Sparse hair, Hypertrichosis OMIM:272440
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, A... ORPHA:659
Obesity And Hypopigmentation
Red hair OMIM:620195
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... ORPHA:79395
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Palmoplantar hyperkeratos... OMIM:225060
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Sparse hair, Coarse hair OMIM:118650
Acrogeria
Irregular hyperpigmentation, Fine hair ORPHA:2500
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Leopard Syndrome 3
Few cafe-au-lait spots, Multiple lentigines, Low posterior hairline, Curly hair, Hyperkeratosis, ... OMIM:613707
Ifap Syndrome 2
Atrichia, Sparse hair, Nail dystrophy OMIM:619016
Lamellar Ichthyosis
Sparse hair, Hyperkeratosis, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Androgen Insensitivity Syndrome
Sparse axillary hair, Sparse pubic hair, Absent facial hair OMIM:300068
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... ORPHA:2930
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair ORPHA:3051
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Leopard Syndrome 2
Multiple lentigines, Cafe-au-lait spot, Curly hair OMIM:611554
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis OMIM:190351
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Noonan Syndrome 6
Multiple lentigines, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair, Cafe-au-lait... OMIM:613224
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair OMIM:616943
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails ORPHA:3447
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak ORPHA:1520
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ... OMIM:150400
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:3353
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Multiple cafe-au-lait spots, Sparse hair ORPHA:2316
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... ORPHA:3253
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology ORPHA:1515
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Thick eyebrow, Synophrys OMIM:611091
Tetrasomy 12P
Sparse eyebrow, Sparse hair, Hypohidrosis ORPHA:884
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... OMIM:129400
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Sparse eyelashes, Parakeratosis, Thick hair, Sparse hair OMIM:607626
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Parakeratosis, Brittle hair, Sparse scalp hair OMIM:256500
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse... ORPHA:1787
Even-Plus Syndrome
Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Sparse facial hair OMIM:608154
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Sparse hair OMIM:268020
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Hypohidrosis, Erythroderma, Pruritus ORPHA:79394
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... OMIM:601675
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, M... ORPHA:978
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Sparse hair, Palmoplantar keratoderma, Fragile nails OMIM:242150
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, Trichorrhexis n... ORPHA:634
Hawkinsinuria
Sparse hair OMIM:140350
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Sparse hair ORPHA:2872
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n... ORPHA:1010
Papillon-Lefèvre Syndrome
Palmoplantar keratoderma, Hypopigmented skin patches, Hypertrichosis, Abnormal fingernail morphol... ORPHA:678
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal toenail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis ORPHA:1005
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Palmop... OMIM:620507
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Coarse hair, Synophrys OMIM:252930
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Supernumerary nipple, ... ORPHA:1071
Complex Regional Pain Syndrome
Slow-growing nails, Abnormality of hair growth ORPHA:83452
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Auriculocondylar Syndrome 2B
Sparse hair, Synophrys OMIM:620458
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Follicula... OMIM:158310
Intellectual Developmental Disorder, Autosomal Dominant 65
Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys OMIM:619320
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Acantholysis, Sparse hair, Palmoplantar keratoderma OMIM:615508
Fanconi Anemia, Complementation Group S
Long eyelashes, Sparse hair, Low anterior hairline OMIM:617883
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Sparse hair ORPHA:284180
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Noonan Syndrome 8
Hyperpigmentation of the skin, Hyperkeratosis, Curly hair OMIM:615355
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Ruijs-Aalfs Syndrome
Sparse hair, Premature graying of hair OMIM:616200
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Multiple lentigines, Curly hair, Cafe-au-lait spot OMIM:611553
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Nail dystrophy, Hypohidrosis ORPHA:98813
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Tonne-Kalscheuer Syndrome
Blue irides, Small nail, Fine hair, Concave nail OMIM:300978
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... ORPHA:217346
Garg-Mishra Progeroid Syndrome
Sparse hair, Cafe-au-lait spot, Small nail OMIM:620601
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Palmoplantar keratoderma, Nail dystrophy, Woolly s... OMIM:620519
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails ORPHA:77258
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Trichotillomania
Alopecia OMIM:613229
Joubert Syndrome 37
Sparse hair OMIM:619185
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
46,Xy Sex Reversal 6
Sparse axillary hair, Hirsutism OMIM:613762
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Anhidrosis, Concave nail, Sparse eyel... OMIM:305100
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling OMIM:614105
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplas... ORPHA:3071
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Coarse hair, Brittle hair OMIM:219200
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Ectodermal Dysplasia And Immunodeficiency 2
Hypohidrosis, Anhidrosis, Aplasia of the sweat glands, Sparse hair, Sparse scalp hair OMIM:612132
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Fine hair, Low anterior hairline ORPHA:391408
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Anhidrosis, Nail dystrophy, Spa... OMIM:106260
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Revesz Syndrome
Ridged fingernail, Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Sparse hair, Na... OMIM:268130
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair, Cafe-au-lait spot OMIM:250410
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Coarse hair, Low anterior hairline ORPHA:2095
Aredyld Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1133
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Reticular hyperpigmentation, Sp... OMIM:127550
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Hypohidrosis, Sparse hair OMIM:613451
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Mottled pigmentation, Brittle hair OMIM:608612
Noonan Syndrome 14
Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Curly hair, Sparse hair OMIM:619745
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Fine hair, Multiple lentigines, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1340
Noonan Syndrome 7
Low posterior hairline, Hyperhidrosis, Curly hair OMIM:613706
Mandibuloacral Dysplasia
Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail ORPHA:2457
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow OMIM:618644
Smith-Kingsmore Syndrome
Cafe-au-lait spot, Curly hair OMIM:616638
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow ORPHA:585
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Scarf Syndrome
Low posterior hairline, Hypoplastic nipples, Sparse hair ORPHA:3134
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Palmoplantar keratoderma, Nail dystrophy, Hypohidrosis, Follicular hyperker... ORPHA:158668
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair ORPHA:457485
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair OMIM:219150
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Sparse hair, Periungual erythema, Nail dystrophy OMIM:615934
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Long eyelashes, Fine hair, Synophrys OMIM:620250
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Multiple lentigines, Long eyelashes, Hyperpigmentation of the skin, Hyperkerat... OMIM:607721
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:613026
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Adult Syndrome
Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp, Sparse axillary hair, Hypoplastic... OMIM:103285
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Aplastic/hypoplastic toenail, Hypohidrosis, Aplasia/Hypoplasia o... ORPHA:1812
Dyskeratosis Congenita
Alopecia, Palmoplantar keratoderma, Hypopigmented skin patches, White hair, Premature graying of ... ORPHA:1775
Marshall Syndrome
Sparse eyebrow, Sparse hair, Hypohidrosis, Sparse eyelashes ORPHA:560
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail ORPHA:974
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Brittle hair OMIM:236200
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Scarf Syndrome
Low posterior hairline, Hypoplastic nipples, Sparse hair, Low anterior hairline OMIM:312830
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Mongolian blue spot, Low anterior hairline OMIM:618569
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Reticulated skin ... OMIM:613990
Macs Syndrome
Alopecia, Sparse hair, Sparse eyebrow OMIM:613075
Noonan Syndrome 4
Sparse eyebrow, Blue irides, High anterior hairline, Curly hair OMIM:610733
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Absent eyelashes, Low posterior hairline, Hyperpigmentation of the skin, Abs... OMIM:115150
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:363618
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Isolated Follicle Stimulating Hormone Deficiency
Sparse axillary hair, Sparse pubic hair, Bilateral breast hypoplasia ORPHA:52901
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:302960
ERI1-related disease
Sparse hair, Anonychia, Low anterior hairline OMIM:608739
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... ORPHA:2909
Kid Syndrome
Trichilemmoma, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Scarri... ORPHA:477
Complete Androgen Insensitivity Syndrome
Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair ORPHA:99429
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h... OMIM:222470
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Bone Marrow Failure Syndrome 3
Small nail, Nail dystrophy, Hypomelanotic macule, Aplasia/Hypoplasia of the eyebrow, Sparse hair,... OMIM:617052
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe... OMIM:608156
Oculodentodigital Dysplasia
Palmoplantar keratoderma, Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hai... ORPHA:2710
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Noonan Syndrome 10
Sparse eyebrow, Hyperpigmentation of the skin, Hyperkeratosis, Curly hair, Cafe-au-lait spot OMIM:616564
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism OMIM:212066
Craniolenticulosutural Dysplasia
Forehead hyperpigmentation, Sparse hair, Coarse hair, Brittle hair OMIM:607812
Scalp-Ear-Nipple Syndrome
Breast aplasia, Abnormal fingernail morphology, Sparse hair, Hypohidrosis ORPHA:2036
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... OMIM:268400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:228300
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys OMIM:617303
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys OMIM:620072
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Hypohidrosis, Slow-growing... ORPHA:1896
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair OMIM:617360
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Agel Amyloidosis
Sparse hair, Nail dystrophy ORPHA:85448
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys OMIM:609460
Hamamy Syndrome
Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Sparse eyelashes, Low pos... OMIM:611174
Glass Syndrome
Nail dysplasia, Long eyelashes, Sparse hair OMIM:612313
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Teebi-Shaltout Syndrome
Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline OMIM:272950
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... OMIM:617506
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thick eyebrow, Hirsuti... OMIM:615485
Monosomy 22
Sparse hair, Hyperhidrosis, Synophrys ORPHA:96123
Chand Syndrome
Nail dysplasia, Hypohidrosis, Curly hair ORPHA:1401
Oculodentodigital Dysplasia
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Abnormalit... ORPHA:920
Bcard Syndrome
Nail dysplasia, Coarse hair OMIM:612394
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia OMIM:614813
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Cafe-au-lait spot OMIM:614114
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Abnormality of hair textu... ORPHA:73223
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Hypermelanotic macule OMIM:242900
Weaver Syndrome
Fine hair, Melanocytic nevus, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... OMIM:129900
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Nail dystrophy, Alopecia of scalp ORPHA:436252
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Koolen-De Vries Syndrome
Abnormality of hair texture, Iris hypopigmentation, Fair hair OMIM:610443
Trisomy 20P
Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,... ORPHA:261318
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot OMIM:613563
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Premature Aging Syndrome, Penttinen Type
Palmoplantar hyperkeratosis, Sparse hair, Hyperkeratosis OMIM:601812
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... ORPHA:2637
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair OMIM:616541
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... OMIM:601358
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... OMIM:304110
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221008
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail, Anhidrosis OMIM:617799
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Chime Syndrome
Sparse hair, Hyperkeratosis, Fine hair ORPHA:3474
Mucopolysaccharidosis, Type Iiid
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys OMIM:252940
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:234100
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Sparse body hair ORPHA:432
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair OMIM:300661
Leprosy
Alopecia, Sparse body hair, Loss of eyelashes, Hypohidrosis, Absent eyebrow, Hyperkeratosis ORPHA:548
White-Sutton Syndrome
Sparse hair OMIM:616364
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Hirsutism, Toenail dysplasia, Synophrys OMIM:300966
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple ORPHA:261349
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... ORPHA:33364
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221016
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair OMIM:619934
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Sparse hair OMIM:619869
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Sparse hair OMIM:244450
De Barsy Syndrome
Sparse hair ORPHA:2962
Stuve-Wiedemann Syndrome 1
Sparse hair, Hyperhidrosis, Blotching pigmentation of the skin OMIM:601559
Cockayne Syndrome B
Pigmentary retinopathy, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Anh... OMIM:133540
Noonan Syndrome 2
Sparse eyebrow, Melanocytic nevus, Low posterior hairline, Hyperpigmentation of the skin, Hyperke... OMIM:605275
Orofaciodigital Syndrome I