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Ectodermal dysplasia 4, hair/nail type(ECTD4)

MedGen UID:: 870434
•Concept ID:: C4024880
•: Disease or Syndrome

Synonym:	ECTD4

Gene (location): Gene(s) directly associated with this condition or phenotype.	KRT85 (12q13.13)

Monarch Initiative:	MONDO:0011177
OMIM®:	602032

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. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. [from OMIM]

Clinical features

From HPO

Palmoplantar keratosis

MedGen UID:: 44017
•Concept ID:: C0022596
•: Disease or Syndrome

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Abnormality of the dentition

MedGen UID:: 78084
•Concept ID:: C0262444
•: Finding

Any abnormality of the teeth.

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Absent eyebrow

MedGen UID:: 98133
•Concept ID:: C0431448
•: Congenital Abnormality

Absence of the eyebrow.

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Onycholysis

MedGen UID:: 39324
•Concept ID:: C0085661
•: Disease or Syndrome

Detachment of the nail from the nail bed.

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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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Abnormal sweat gland morphology

MedGen UID:: 892310
•Concept ID:: C0262643
•: Anatomical Abnormality

Any structural abnormality of the sweat gland.

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Brittle hair

MedGen UID:: 120480
•Concept ID:: C0263490
•: Disease or Syndrome

Fragile, easily breakable hair, i.e., with reduced tensile strength.

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Pili torti

MedGen UID:: 82670
•Concept ID:: C0263491
•: Finding

Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.

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Congenital onychodystrophy

MedGen UID:: 853249
•Concept ID:: C1393669
•: Congenital Abnormality

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Absent eyelashes

MedGen UID:: 334299
•Concept ID:: C1843005
•: Congenital Abnormality

Lack of eyelashes.

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Sparse body hair

MedGen UID:: 350775
•Concept ID:: C1862863
•: Finding

Sparseness of the body hair.

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Temporal hypotrichosis

MedGen UID:: 870856
•Concept ID:: C4025316
•: Congenital Abnormality

Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).

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Abnormality of head or neck
- Abnormality of the dentition
- Absent eyebrow
Abnormality of limbs
- Palmoplantar keratosis
Abnormality of the integument
Abnormality of the nervous system
- Intellectual disability

Recent clinical studies

Clinical prediction guides

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N
Eur J Dermatol 2010 Jul-Aug;20(4):443-6. Epub 2010 Apr 21 doi: 10.1684/ejd.2010.0962. PMID: 20409997

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Ectodermal dysplasia 4, hair/nail type(ECTD4)

Definition

Clinical features

Recent clinical studies

Clinical prediction guides

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