The tables below records disorders known to involve hair shaft
defects. The first table lists disorders where hair defects are
a primary symptom. The second table lists disorders where hair defects
can be one of several symptoms. Typically the other symptoms are
of greater concern and health/life threatening. Links to relevant
web pages on the Online
Mendelian Inheritance in Man (OMIM) web database are also given
where possible.
Where a disorder is known by more than one name, alternative
names are given in the second column and the record duplicated
in the first column under each respective name. Brackets around
alternative disorder names indicate an indirect association, for
example a subcategory of the disorder. These records are not duplicated
in the first column.
| Disorders with hair defects as a secondary symptom |
Alternative names for disorder |
Links to OMIM web pages for disorder (where available) |
| |
|
|
| Acrofacial dystosis, palagonia type |
|
601829 |
| Amelogenesis imperfecta-taurodontism-sclerotic bones |
Trichodento-osseous syndrome |
190320 |
| Amish brittle hair syndrome |
Hair-brain syndrome |
234050 |
| Arginosuccinic acid synthetase deficiency |
Citrullinemia |
215700 |
| Argininosuccinic aciduria |
Arginosuccinase deficiency |
207900 |
| Arginosuccinase deficiency |
Argininosuccinic aciduria |
207900 |
| Bazex-Dupre-Christol syndrome |
Follicular atrophoderma and basal cell carcinoma syndrome,
Bazex syndrome |
301845 |
| Bazex syndrome |
Follicular atrophoderma and basal cell carcinoma syndrome,
Bazex-Dupre-Christol syndrome |
301845 |
| Berardinelli-Seip syndrome |
Lawrence-Seip syndrome,
Lipoatrophic diabetes syndrome |
269700 |
| BIDS (Brittle hair, Intellectual impairment, Decreased fertility,
Short stature) |
(Amish brittle hair syndrome)
(Trichothiodystrophy) |
234050 |
| Bjornstad syndrome |
Pili torti and nerve deafness |
262000 |
| Cantu syndrome |
|
114620 |
| Cerebellar ataxia and ectodermal dysplasia |
|
212835 |
| CHAND (Curly Hair, Ankyloblepharon, Nail Dysplasia) syndrome |
|
214350 |
| Chediak-Higashi syndrome |
(Lysosomal trafficking regulator) |
214500 |
| Chediak-Higashi-like syndrome |
Griscelli syndrome,
(Partial albinism) |
214450 |
| Chondrodysplasia punctata syndrome |
Conradi-Hunermann syndrome Chondrodystrophia calcificans congenita |
118650
302950 |
| Citrullinemia |
Arginosuccinic acid synthetase deficiency |
215700 |
| Cleidocranial dysostosis |
(Cleidocranial dysplasia) |
119600 |
| Clouston syndrome |
Hidrotic ectodermal dysplasia |
129500 |
| Conradi-Hunermann syndrome |
Chondrodysplasia punctata syndrome |
118650 |
| Crandall syndrome |
Pili torti syndrome |
|
| Cranioectodermal dysplasia |
Levin syndrome I,
Sensenbrenner syndrome |
218330 |
| Diarrhea, fatal infantile, with abnormal hair |
Trichorrhexis blastysis |
222470 |
| Ectodermal dysplasia, anhidrotic with cleft lip and palate |
Rapp-Hodgkin syndrome |
129400
225000 |
| Elejalde syndrome |
Neuroectodermal melanolysosomal disease |
256710 |
| Erythropoietic porphyria |
Gunther disease,
Uros deficiency |
263700 |
| Female pseudo-turner syndrome |
Noonan syndrome,
Male turner syndrome |
163950 |
| Follicular atrophoderma and basal cell carcinoma syndrome |
Bazex syndrome,
Bazex-Dupre-Christol syndrome |
301845 |
| Griscelli syndrome |
Cediak-Higashi-like syndrome
(Partial albinism) |
214450 |
| Gunther disease |
Erythropoietic porphyria,
Uros deficiency |
263700 |
| Hair-brain syndrome |
Amish brittle hair syndrome |
234050 |
| Hidrotic ectodermal dysplasia |
Clouston ectodermal dysplasia |
129500 |
| Horner syndrome |
|
143000 |
| Hypomelia-hypotrichosis-facial hemangioma syndrome |
Roberts syndrome,
Pseudothalidomide syndrome |
268300
269000 |
| Hypodontia |
Witkop syndrome |
|
| IBIDS (Intellectual impairment, Brittle hair, Ichthyosis,
Decreased fertility, Short stature) |
(Trichothiodystrophy) |
601675 |
| Insect bites |
|
|
| Keratitis-ichthyosiform erythroderma-deafness (KID) syndrome |
|
148210 |
| Kinky hair syndrome |
Menkes syndrome |
309400 |
| Kwashiorkor |
|
|
| Lawrence-Seip syndrome |
Lipoatrophic diabetes syndrome,
Berardinelli-Seip syndrome |
269700 |
| Levin syndrome I |
Cranioectodermal dysplasia,
Sensenbrenner syndrome |
218330 |
| Lipoatrophic diabetes syndrome |
Lawrence-Seip syndrome,
Berardinelli-Seip syndrome |
269700 |
| Male turner syndrome |
Noonan syndrome,
Female pseudo-turner syndrome |
163950 |
| Marinesco-Sjogren syndrome |
|
|
| Menkes syndrome |
Kinky hair syndrome,
Steely hair disease
(Copper transport disease) |
309400 |
| Mucopolysaccharidosis |
(Various) |
List |
| Netherton syndrome |
(Comel-Netherton syndrome) |
256500 |
| Neuroectodermal melanolysosomal disease |
Elejalde syndrome |
256710 |
| Noonan syndrome |
Male turner syndrome
Female pseudo-turner syndrome |
163950 |
| Oculo-dento-digital syndrome |
(Oculodentoosseous dysplasia) |
257850
164200 |
| Oculoosteocutaneous syndrome |
|
257850
164200 |
| PIBIDS (Photosensitivity, Intellectual impairment, Brittle
hair, Ichthyosis, Decreased fertility, Short stature) |
(Trichothiodystrophy) |
278730 |
| Pili torti and nerve deafness |
Bjornstad syndrome |
262000 |
| Pollitt syndrome |
Trichorrhexis nodosa syndrome |
275550 |
| Pseudothalidomide syndrome |
Roberts syndrome,
Hypomelia-hypotrichosis-facial hemangioma syndrome |
268300
269000 |
| Rapp-Hodgkin syndrome |
Ectodermal dysplasia, anhidrotic with cleft lip and palate |
129400
225000 |
| Roberts syndrome |
Pseudothalidomide syndrome,
Hypomelia-hypotrichosis-facial hemangioma syndrome |
268300
269000 |
| Sabinas syndrome |
(Sabinas brittle hair syndrome) |
211390 |
| Sanfilippo syndrome |
(Mucopolysaccharidoses type III) |
309990 |
| Sclerosis |
|
|
| Sensenbrenner syndrome |
Cranioectodermal dysplasia,
Levin syndrome I |
218330 |
| Steely hair disease |
Kinky hair syndrome,
Menkes syndrome
(Copper transport disease) |
309400 |
| Tay syndrome |
(Trichothiodystrophy) |
601675 |
| Trichodento-osseous syndrome |
Amelogenesis imperfecta-taurodontism-sclerotic bones |
190320 |
| Trichodysplasia-xeroderma |
|
190360 |
| Trichopoliodystrophy |
(Menkes syndrome) |
309400 |
| Trichorrhexis blastysis |
Diarrhea, fatal infantile, with abnormal hair |
222470 |
| Trichorrhexis nodosa syndrome |
Pollitt syndrome |
275550 |
| Trichothiodystrophy |
|
601675 |
| Uros deficiency |
Erythropoietic porphyria,
Gunther disease |
263700 |
| Witkop syndrome |
Hypodontia |
602639
106600 |
