• Introduction
• List of disorders involving a lack of hair growth (hypotrichosis) as a primary symptom
• List of disorders involving a lack of hair growth (hypotrichosis) as a secondary symptom

Introduction

The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias.

The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. 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.

List of disorders involving a lack of hair growth (hypotrichosis) as a primary symptom

Disorders with hypotrichosis as a primary symptom	Alternative names for disorder	Links to OMIM web pages for disorder (where available)
Aplasia cutis congentia	Congenital defect of skull and scalp	107600
Cartilage-hair hypoplasia	Metaphyseal chonrodysplasia, McKusick type	250250
Congenital alopecia		300042
Congenital atrichia	Papular atrichia?	209500 203655
Congenital defect of skull and scalp	Aplasia cutis congentia	107600
Congenital hypotrichosis	Hairlessness	241900
Follicular degeneration syndrome
Hairlessness	Congenital hypotrichosis	241900
Hypotrichosis with light-colored hair and facial milia		146530
Hypotrichosis simplex	Spanish type hypotrichosis	146520
Jeanselme and Rime hypotrichosis
Marie Unna hypotrichosis		146550
Metaphyseal chonrodysplasia, McKusick type	Cartilage-hair hypoplasia	250250
Papular atrichia	Congenital atrichia?	209500 203655
Spanish type hypotrichosis	Hypotrichosis simplex	146520
Triangular alopecia

List of disorders involving a lack of hair growth (hypotrichosis) as a secondary symptom

Disorders with hypotrichosis as a secondary symptom	Alternative names for disorder	Links to OMIM web pages for disorder (where available)
AcroRenal field defect, Ectodermal DYsplasia and Lipoatrophic Diabetes (AREDYLD) syndrome		207780
Addison Disease	Hypoadrenocorticism	240200 300100 300200
Alopecia-Anosmia-Deafness-Hypogonadism (AADH) syndrome	Johnson-McMillin syndrome	147770
Alopecia mental retardation syndrome	Perniola syndrome	203650
Alopecia-onchodysplasia-hypohidrosis syndrome
Alopecia-onchodysplasia-hypohidrosis-hyperkeratosis-deafness syndrome
Androgen insensitivity syndrome	Dihydrotestosterone receptor deficiency, Testicular feminization syndrome	300068
Angiokeratoma dysplasia	Fabry Disease	301500
Anhidrotic ectodermal dysplasia with cleft lip and palate syndrome	Rapp-Hodgkin syndrome	129400
Anhidrotic ectodermal dysplasia		129490
Ankyloblepharon-ectodermal defects-cleft palate (AEC) syndrome		106260
Ankyloblepharon-ectodermal defects cleft lip and palate syndrome	Hay-Wells syndrome	106260
ANOTHER (alopecia, Nail dystrophy, Opthalmic complications, Thyroid dysfunction, Arthrogryposis and ectodermal dysplasia
Ataxia telangiectasia	Louis-Bar syndrome	208900
Baraitser syndrome
Basal cell nevus	Goltz-Gorlin syndrome	109400
Basan type ectodermal dysplasia
Bazex syndrome	Follicular atrophoderma and basal cell carcinomas (Bazex-Dupre-Christol syndrome)	301845
Bird-headed dwarf syndrome		210700
Bjornstad syndrome	Pili torti and nerve deafness	262000
Bloch-Sulzberger syndrome	Incontinentia pigmenti	308300
Brachymetapody-anodontia hypotrichosis-albinoidism	Oculo-osteocutaneous syndrome	211370
Brittle hair and mental deficit	Sabinas syndrome	211390
Bullous dystrophy macular type	Mendes da Costa-van der Valk syndrome	302000
Caranioectodermal dysplasia	Sensenbrenner-Dorset-Owen syndrome	218330
Cartilage-hair hypoplasia	Metaphyseal chondrodysplasia, McKusick type	250250
Chondrodysplasia punctata		118650 118651 215105 302940 302950 302960 602497
Chondroectodermal dysplasia	Ellis-van Creveld syndrome	225500
Christ-Siemens-Touraine syndrome	(Ectodermal dysplasia, anhidrotic)	305100
Clouston syndrome	(Ectodermal dysplasia, hidrotic)	129500
Cockayne syndrome		133540 216400 216411
Coffin-Siris syndrome	Fifth digit syndrome	135900
Cystathionine-beta-synthase deficiency	Homocystinuria	236200
Dermotrichic syndrome
Dihydrotestosterone receptor deficiency	Androgen insensitivity syndrome, Testicular feminization syndrome	300068
Dubowitz syndrome		223370
Dyskeratosis congenita	Zinsser-Cole-Engman syndrome	127550 224230 305000
Dysplasia of nails with hypodontia	Tooth and nail syndrome	189500
Eccrine tumors with ectodermal dysplasia	Schopf-Schulz-Passarge syndrome	224750
Ectodermal dysplasia and neurosensory deafness	Mikaelian syndrome	224800
Ectodermal dysplasia	(Various)	List
Ectodermal dysplasia, cleft lip and palate, hand and foot deformity and mental retardation syndrome	Rosselli-Gulienetti syndrome	225000
Ectrodactyly-Ectodermal dysplasia-Cleft palate (EEC) syndrome		129900
Ectrodactyly-Ectodermal dysplasia-Macular dystrophy (EEM) syndrome		225280
Ellis-van Creveld syndrome	Chondroectodermal dysplasia	225500
Fabry Disease	Angiokeratoma dysplasia	301500
Feire-Maia syndrome	Odontotrichomelic syndrome	273400
Fetal akinesia sequence	Shokeir syndrome	208150
Fibrous dysplasia		174800 260490
Fifth digit syndrome	Coffin-Siris syndrome	135900
Fischer syndrome
Follicular atrophoderma and basal cell carcinomas	Bazex syndrome (Bazex-Dupre-Christol syndrome)	301845
Francois dyscephalic syndrome	Oculomandibular dyscephaly, Hallermann-Streiff syndrome	234100
Freire-Maia syndrome	Odontotrichomelic syndrome	273400
GAPO (Growth retardation-Alopecia-Pseudoanodontia-Optic atrophy) syndrome		230740
Giedion-Langer syndrome	Trichorhinophalangeal syndrome	150230
Glossoptosis, micrognathia and cleft palate syndrome	Pierre-Robin syndrome	261800
Goltz-Gorlin syndrome	Basal cell nevus	109400
Hallerman-Streiff syndrome	Francois dyscephalic syndrome	234100
Hallermann-Streiff syndrome	Oculomandibular dyscephaly, Francois dyscephalic syndrome	234100
Hansen Disease
Hay-Wells syndrome	Ankyloblepharon-ectodermal defects cleft lip palate	106260
Hayden syndrome
Homocystinuria	Cystathionine-beta-synthase deficiency	236200
Hutchinson-Gilford syndrome	Progeria	176670
Hypohidrosis, ephelides and enteropathy, respiratory tract infections) syndrome
Incontinentia pigmenti	Bloch-Sulzberger syndrome	308300
Johanson-Blizzard syndrome		243800
Johnson-McMillin syndrome	Alopecia-Anosmia-Deafness-Hypogonadism (AADH) syndrome	147770
Jorgensen syndrome	(Ectodermal dysplasia)
Kallin syndrome	Epidermolysis bullosa simplex	226670 131900 131950 131960 601001
Keratitis-Ichthyosis-Deafness (KID) syndrome		148210
Klinefelter syndrome	XXY syndrome
Louis-Bar syndrome	Ataxia telangiectasia	208900
Lowe syndrome	Oculocerebrorenal syndrome	309000
Marasmus
Marinesco-Sjogren syndrome		248800
Marshall syndrome		154780
Mendes da Costa-van der Valk syndrome	Bullous dystrophy macular type	302000
Metageria	Acrogeria	201200
Metaphyseal chondrodysplasia, McKusick type	Cartilage-hair hypoplasia	250250
Mikaelian syndrome	Ectodermal dysplasia and neurosensory deafness	224800
Netherton syndrome		256500
Nevus sebaceous syndrome		163200 601359
Oculo-osteocutaneous syndrome	Brachymetapody-anodontia hypotrichosis-albinoidism	211370
Oculocerebrorenal syndrome	Lowe syndrome	309000
Oculodentodigital dysplasia		257960
Oculomandibular dyscephaly	Hallermann-Streiff syndrome, Francois dyscephalic syndrome	234100
Oculoosteocutaneous syndrome	Tuomaala-Haapanen syndrome	211370
Oculotrichodysplasia		257960
Odontoonychodysplasia
Odontotrichomelic syndrome	Feire-Maia syndrome	273400
OroFacioDigital (OFD) syndrome		311200
Pachyonychia congenita		167200 167210 260130
Palate-popliteal pterygia syndrome		119500
Pallister-Killian syndrome	(Tetrasomy 12p mosaic)	601803
Pangeria	Werner syndrome	277700
Perniola syndrome	Alopecia mental retardation syndrome	203650
Phocomelia syndrome	Pseudothalidomide syndrome	269000
Pierre-Robin syndrome	Glossoptosis, micrognathia and cleft palate syndrome	261800
Pili torti and nerve deafness	Bjornstad syndrome	262000
Poikiloderma atrophicans and cataract syndrome	Rothmund-Thomson syndrome	268400
Pollitt syndrome	Trichorrhexis nodosa syndrome	275550
Polyostotic fibrous dysplasia		260490
Porphyria		176000 176010 176090 176100 176200 263700
Progeria	Hutchinson-Gilford syndrome	176670
Pseudothalidomide syndrome	Phocomelia syndrome	269000
Rapp-Hodgkin syndrome	Anhidrotic ectodermal dysplasia with cleft lip and palate syndrome	129400
Regional choroidal atrophy
Roberts syndrome		268300
Rombo syndrome		180730
Rosselli-Gulienetti syndrome	Ectodermal dysplasia, cleft lip and palate, hand and foot deformity and mental retardation syndrome	225000
Rothmund-Thomson syndrome	Poikiloderma atrophicans and cataract syndrome	268400
Sabinas syndrome	Brittle hair and mental deficit	211390
Salamon syndrome		278200
Salti-Salem syndrome
Schopf-Schulz-Passarge syndrome	Eccrine tumors with ectodermal dysplasia	224750
Sensenbrenner-Dorset-Owen syndrome	Caranioectodermal dysplasia	218330
Severe Combined Immunodeficiency (SCID)		202500 269840 312863 600802 601457 602450
Shokeir syndrome	Fetal akinesia sequence	208150
Tay syndrome	(Trichothiodystrophy)	601675
Testicular feminization syndrome	Androgen insensitivity syndrome, Dihydrotestosterone receptor deficiency	300068
Tooth and nail syndrome	Dysplasia of nails with hypodontia	189500
Trichodental dysplasia		601453
Trichodysplasia-xeroderma		190360
Trichofacio-hypohidrotic syndrome
Trichoodontoonychial dysplasia		275450
Trichoodontoonychodermal (TOOD) syndrome	(Amastia, Athelia)	129510
Trichorhinophalangeal Syndrome		190350 190351 275500
Trichorhinophalangeal syndrome	Giedion-Langer syndrome	150230
Trichorrhexis nodosa syndrome	Pollitt syndrome	275550
Tuomaala-Haapanen syndrome	Oculoosteocutaneous syndrome	211370
Walbaum-Dehaene-Schlemmer syndrome
Weaver syndrome		277590
Werner syndrome	Pangeria	277700
Xeroderma, Talipes, Enamel defect (XTE) syndrome
XXY syndrome	Klinefelter syndrome
Zanier-Rouicek syndrome	(Ectodermal dysplasia, anhidrotic)	129490