Table 2. [PORCN-Related Developmental Disorders: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Skin	Congenital patchy skin aplasia	95%
Congenital skin hypo- or hyperpigmentation	90%-100%
Telangiectasias	~80%	Face, trunk, & extremities
Congenital nodular fat herniation	60%-70%
Verrucous papillomas	65%	Skin & mucous membranes (mouth, nose, larynx, esophagus, vaginal mucosa, &/or rectal mucosa)
Pebbled skin texture	58%
Photosensitivity	40%
Nails	Congenital ridged, dysplastic, or hypoplastic nails	80%-90%
Hair	Hair shaft abnormalities on scanning EM	80%-90%
Patchy alopecia of scalp	80%
Wiry hair	65%
Limb malformations	Syndactyly	70%-90%
Ectrodactyly	75%
Oligodactyly	20%-40%	Often central digits
Long bone reduction defect	50%-80%
Transverse limb defect	15%
Dental	Hypodontia	80%
Enamel defects / longitudinal grooving	65%
Peg teeth	50%
Ocular manifestations	Iris colobomas	50%
Chorioretinal colobomas	60%
Microphthalmia	45%
Anophthalmia	5%-10%
Cataracts	10%
Nystagmus	30%
Strabismus	20%

From: PORCN-Related Developmental Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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