X-linked hypohidrotic ectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1
ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED
CST SYNDROME
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
ECTODERMAL DYSPLASIA 1
ED1
XHED
EDA1
ECTD1
EDA
XLHED
HED1
X-linked anhidrotic ectodermal dysplasia
christ-siemens-touraine syndrome
Number of Symptoms 79
OrphanetNr: 181
OMIM Id: 305100
ICD-10: Q82.4
UMLs: C0162359
MeSH: D053358
MedDRA:
Snomed: 239007005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypohidrotic ectodermal dysplasia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000679) Taurodontia 27 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000331) Short chin 33 / 7739
4
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
5
 (HPO:0011830) Abnormality of oral mucosa 47 / 7739
6
 (HPO:0010803) Everted upper lip vermilion 4 / 7739
7
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
8
 (HPO:0000698) Conical tooth 14 / 7739
9
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
10
 (HPO:0012471) Thick vermilion border 115 / 7739
11
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
12
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
13
 (HPO:0000607) Periorbital wrinkles 4 / 7739
14
 (HPO:0003196) Short nose 264 / 7739
15
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
16
 (HPO:0000653) Sparse eyelashes 58 / 7739
17
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
18
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
19
 (HPO:0000668) Hypodontia 81 / 7739
20
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
21
 (HPO:0002223) Absent eyebrow 21 / 7739
22
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
23
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
24
 (HPO:0001106) Periorbital hyperpigmentation 3 / 7739
25
 (HPO:0001618) Dysphonia 28 / 7739
26
 (HPO:0002557) Hypoplastic nipples 33 / 7739
27
 (HPO:0006709) Aplasia/Hypoplasia of the nipples 28 / 7739
28
 (HPO:0002561) Absent nipple 12 / 7739
29
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
30
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
31
 (HPO:0002299) Brittle hair 52 / 7739
32
 (HPO:0007411) Hypoplastic-absent sebaceous glands 1 / 7739
33
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
34
 (HPO:0000970) Anhidrosis 24 / 7739
35
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
36
 (HPO:0000977) Soft skin 23 / 7739
37
 (HPO:0000963) Thin skin 96 / 7739
38
 (HPO:0000966) Hypohidrosis 41 / 7739
39
 (HPO:0007607) Hypohidrotic ectodermal dysplasia 5 / 7739
40
 (HPO:0000964) Eczema 81 / 7739
41
 (HPO:0000958) Dry skin 152 / 7739
42
 (HPO:0007592) Aplasia/Hypoplastia of the eccrine sweat glands 1 / 7739
43
 (HPO:0001598) Concave nail 14 / 7739
44
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
45
 (HPO:0001945) Fever 218 / 7739
46
 (HPO:0002046) Heat intolerance 13 / 7739
47
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
48
 (HPO:0001609) Hoarse voice 34 / 7739
49
 (HPO:0002880) Respiratory difficulties 15 / 7739
50
 (MedDRA:10039088) Rhinitis atrophic 1 / 7739
51
 (OMIM) Scant-absent eyebrows 1 / 7739
52
 (MedDRA:10051208) Nasal mucosa atrophy 1 / 7739
53
 (OMIM) Mild localized pigmentation abnormalities 1 / 7739
54
 (OMIM) Hoarse voice due to dry laryngeal mucosa 1 / 7739
55
 (OMIM) Decreased palatal depth 1 / 7739
56
 (OMIM) Adontia 1 / 7739
57
 (OMIM) Blonde, fine scalp hair 1 / 7739
58
 (OMIM) Soft thin skin 3 / 7739
59
 (OMIM) Small cranial length 1 / 7739
60
 (OMIM) Hypoplastic-absent mammary glands 1 / 7739
61
 (OMIM) Prominent lips 7 / 7739
62
 (OMIM) Absent or scanty eyelashes 1 / 7739
63
 (OMIM) Ozena 1 / 7739
64
 (OMIM) Susceptible to hyperthermia 2 / 7739
65
 (OMIM) Small facial height 1 / 7739
66
 (OMIM) Absent miebomian glands 1 / 7739
67
 (OMIM) Scant-absent eyelashes 1 / 7739
68
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
69
 (HPO:0001425) Heterogeneous 132 / 7739
70
 (OMIM) Scanty hair 1 / 7739
71
 (OMIM) Fine, brittle hair 2 / 7739
72
 (OMIM) Atrophic pharyngeal mucosa 1 / 7739
73
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
74
 (OMIM) Absent or scanty eyebrows 1 / 7739
75
 (OMIM) Atrophic mucosa causing dysphonia 1 / 7739
76
 (OMIM) Hypoplastic or absent mucous glands which may lead to dried secretions and obstruction 1 / 7739
77
 (OMIM) Skin peeling/scaling (newborn) 1 / 7739
78
 (OMIM) Absent tears 1 / 7739
79
 (OMIM) Sweat pore aplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized ...
Diagnosis OMIM - Prenatal Diagnosis

Gilgenkrantz et al. (1989) described a 3-generation family and reported that in 2 cases prenatal diagnosis was performed by skin biopsy and by fetoscopy. Specimens showed a complete lack of pilosebaceous units. ...
Clinical Description OMIM Pinheiro and Freire-Maia (1979) reported a large Brazilian kindred with multiple affected individuals over 6 generations. Thirteen males were affected and 27 females were variably affected. Males had a characteristic facies, with frontal bossing, maxillary hypoplasia, 'saddle' nose, ...
Molecular genetics OMIM In a male patient with the classic EDA phenotype, Zonana et al. (1993) identified a partial deletion at the DXS732 locus within the Xq12-q13 region, with a unique junctional fragment identified in the proband and in 3 of ...