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Items: 4

1.

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

MedGen UID:
762105
Concept ID:
C3541517
Disease or Syndrome
2.

Ectodermal dysplasia 9, hair/nail type

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. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012). [from OMIM]

MedGen UID:
767041
Concept ID:
C3554127
Disease or Syndrome
3.

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. [from ORDO]

MedGen UID:
374340
Concept ID:
C1839910
Disease or Syndrome
4.

Absent hair

MedGen UID:
108274
Concept ID:
C0574763
Finding
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