Hypohidrotic X-linked ectodermal dysplasia- MedGen UID:
- 57890
- •Concept ID:
- C0162359
- •
- Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome- MedGen UID:
- 384046
- •Concept ID:
- C1857052
- •
- Disease or Syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant- MedGen UID:
- 762105
- •Concept ID:
- C3541517
- •
- Disease or Syndrome
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive- MedGen UID:
- 854356
- •Concept ID:
- C3887494
- •
- Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.