We respect your privacy
Analytics cookies show us how the site is used; advertising cookies from Google and Meta measure our ads. Choose which to allow, and change it any time under Your Privacy Choices.
Condition report · Dermatological
A group of genetic disorders characterized by the abnormal development of two or more ectodermal structures, including the skin, hair, nails, teeth, and sweat glands.
Updated 16 October 2026
Included in Premium and Premium + AI
Free shipping · Results in 6–8 weeks
Get my Ectodermal Dysplasias reportIncluded in Premium and Premium + AI
Free shipping · Results in 6–8 weeks
Get my Ectodermal Dysplasias reportAutosomal recessive
Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.
Genes analysed
Also known as
ECTD4; KRT85 pure hair and nail ectodermal dysplasia; pili torti onychodysplasia; pure hair and nail ectodermal dysplasia caused by mutation in KRT85; twisted hair with nail dysplasias
A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
Also known as
anhidrotic ectodermal dysplasia; anhidrotic ectodermal dysplasia 1; anhidrotic ectodermal dysplasia 3; CST syndrome; ectodermal dysplasia 1, Anhydrotic; EDA; HED; hypohidrotic X-linked ectodermal dysplasia
Autosomal dominant
Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
Genes analysed
Also known as
ECTD12; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12; ectodermal dysplasia syndrome caused by mutation in KDF1; KDF1 ectodermal dysplasia syndrome
Autosomal dominant
A GJB6 ectodermal dysplasia with hair loss, nail thickening and thickened palms and soles, with normal sweating and teeth.
Genes analysed
Also known as
alopecia, dysplastic nails, palmar and plantar hyperkeratosis; autosomal dominant hidrotic ectodermal dysplasia; hidrotic ectodermal dysplasia; ectodermal dysplasia, hidrotic, 2; ED2; palmoplantar hyperkeratosis and alopecia; Patel Bixler syndrome
A WNT10A disorder ranging from isolated missing teeth to odonto-onycho-dermal dysplasia with nail and skin changes.
What a diagnosis changes
Early dental assessment helps plan treatment for missing teeth.
Genes analysed
Autosomal recessive
A HOXC13 disorder causing absent or sparse hair and nail dystrophy.
Genes analysed
Also known as
ECTD9; HOXC13 pure hair and nail ectodermal dysplasia; pure hair and nail ectodermal dysplasia caused by mutation in HOXC13
Autosomal recessive
A KREMEN1 disorder with sparse hair and missing teeth.
Genes analysed
Also known as
ECTD13
Autosomal recessive
A TSPEAR disorder with missing teeth and sparse hair, sometimes with reduced sweating.
Genes analysed
Also known as
ECTD14
Autosomal recessive
A CST6 disorder with sparse hair and reduced sweating.
Genes analysed
Also known as
ECTD15
Autosomal dominant
A LEF1 disorder with sparse hair, dental anomalies and sometimes limb differences.
Genes analysed
Autosomal dominant
TP63 conditions combining ectodermal dysplasia with cleft lip or palate and limb malformations, including AEC, Rapp-Hodgkin, ADULT and EEC syndromes.
Genes analysed
Autosomal dominant
A TP63 disorder with hand and foot malformations and underdeveloped breasts or nipples.
Genes analysed
Also known as
LMS; mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
Autosomal recessive
A NECTIN1 disorder combining cleft lip or palate with hair, tooth and nail anomalies.
Genes analysed
Also known as
autosomal recessive ectodermal dysplasia; Bustos Simosa pinto Cisternas syndrome; cleft lip/palate-syndactyly-pili torti; cleft lip/palate-syndactyly-pili torti syndrome; CLEPD; CLPED1; ectodermal dysplasia margarita island type; ectodermal dysplasia type 4; ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly; ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; ED4; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora syndrome; Zlotogora-Ogur syndrome
Autosomal recessive
A NECTIN4 disorder with sparse hair, tooth anomalies and fused fingers or toes.
Genes analysed
Also known as
ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4; EDSS1; NECTIN4 ectodermal dysplasia-syndactyly syndrome
Autosomal dominant
A KRT14 disorder with net-like skin pigmentation, reduced sweating, absent fingerprints and thickened palms and soles.
What a diagnosis changes
Heat precautions help because sweating is reduced.
Genes analysed
Also known as
Naegeli syndrome; NFJ syndrome; NFJS; reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Autosomal dominant
A KRT14 disorder with net-like pigmentation, hair thinning, absent fingerprints and nail changes.
Genes analysed
Also known as
DPR
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Free shipping · Results in 6–8 weeks
