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Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type(ECTD12)

MedGen UID:: 934583
•Concept ID:: C4310616
•: Disease or Syndrome

Synonym:	ECTD12

Gene (location): Gene(s) directly associated with this condition or phenotype.	KDF1 (1p36.11)

Monarch Initiative:	MONDO:0015024
OMIM®:	617337

Definition

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 (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). [from OMIM]

Clinical features

From HPO

Palmar hyperlinearity

MedGen UID:: 400466
•Concept ID:: C1864168
•: Finding

Exaggerated skin markings (dermatoglyphics) on the palms of the hand.

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Eczematoid dermatitis

MedGen UID:: 3968
•Concept ID:: C0013595
•: Disease or Syndrome

Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.

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Acne inversa

MedGen UID:: 57993
•Concept ID:: C0162836
•: Disease or Syndrome

A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.

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Natal tooth

MedGen UID:: 10268
•Concept ID:: C0027443
•: Finding

A tooth present at birth or erupting within the first month of life.

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Concave nasal ridge

MedGen UID:: 78105
•Concept ID:: C0264169
•: Finding

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.

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Sparse lateral eyebrow

MedGen UID:: 387768
•Concept ID:: C1857206
•: Finding

Decreased density/number and/or decreased diameter of lateral eyebrow hairs.

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Short philtrum

MedGen UID:: 350006
•Concept ID:: C1861324
•: Finding

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.

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Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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Scarring alopecia of scalp

MedGen UID:: 812631
•Concept ID:: C3806301
•: Finding

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Hypohidrosis

MedGen UID:: 43796
•Concept ID:: C0020620
•: Disease or Syndrome

Abnormally diminished capacity to sweat.

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Subungual hyperkeratosis

MedGen UID:: 21379
•Concept ID:: C0038605
•: Finding

A thickening of the stratum corneum in the region beneath the nails.

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Nail dystrophy

MedGen UID:: 66368
•Concept ID:: C0221260
•: Disease or Syndrome

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

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Keratosis pilaris

MedGen UID:: 82664
•Concept ID:: C0263383
•: Disease or Syndrome

An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

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Trichorrhexis nodosa

MedGen UID:: 82668
•Concept ID:: C0263485
•: Disease or Syndrome

Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.

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Knuckle pads