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focal dermal hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal dermal hypoplasia

MONDO:0010592

Also known as:Goltz syndromeGoltz-Gorlin syndromefocal dermal hypoplasia, X-linked dominant

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Overview

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

GeneticsX-linked · PORCN (chr X)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: 3-4 finger cutaneous syndactyly, Hypopigmentation of the skin, Split hand, and Ridged nail and others. 87 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	12	3-4 finger cutaneous syndactyly, Toe syndactyly, Split hand

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

PORCN function has not been fully characterized.

Focal dermal hypoplasia is caused by mutations in the PORCN gene on chromosome X.

GeneReviews

Clinical Guidance

Information on genotype-phenotype correlations in PORCN-related developmental disorders is limited.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

A PORCN-related developmental disorder should be considered in an individual with any combination of the following characteristic ectodermal and limb findings and other common clinical findings. Characteristic ectodermal manifestations :

Congenital patchy skin aplasia. Atrophic and hypoplastic areas of skin that often follow the lines of Blaschko and appear as depressed regions of pink or white color, often with a fibrous texture

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for focal dermal hypoplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for PORCN-related developmental disorders have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with a PORCN-related developmental disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. PORCN-Related Developmental Disorders: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. PORCN-Related Developmental Disorders: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

58 publications have been identified in PubMed for focal dermal hypoplasia. Research spans Case Report / Case Series (62%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Patient case studies	36	62%

Data assembled from 9 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:305600

Orphanet

European rare disease database

Orphanet:2092

GARD

Genetic and Rare Diseases Info Center

GARD:6457

Questions for Your Care Team

→Should female family members consider carrier screening for PORCN?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Clinical Guidance

PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Females account for 90% of individuals with PORCN-related developmental disorders. The phenotypes in both males and females are highly variable due to tissue mosaicism: females have random X-chromosome inactivation (functional mosaicism), while most males have postzygotic somatic mosaicism. Table 2. PORCN-Related Developmental Disorders: Frequency of Select Features

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%	, , , , EM = electron microscopy Ectodermal manifestations. The most characteristic features of PORCN-related developmental disorders are the skin manifestations .

Source: GeneReviews — "PORCN-Related Developmental Disorders"

System/Concern	Evaluation	Comment
Ectodermal manifestations	Eval by dermatologist for dermal aplasia or erosive skin that may benefit from treatment w/dressings or lotion	Eval by otolaryngologist for evidence of laryngeal or peritonsillar verrucous papillomas, which can cause obstructive sleep apnea; Sleep study to evaluate for obstructive sleep apnea (often due to airway papillomas)
Limb skeletal manifestations	Chest radiograph to evaluate for costovertebral defects evidence of diaphragmatic hernia	—
Eye findings	Eye exam to evaluate for iris colobomas, chorioretinal colobomas, nystagmus, strabismus, or cataracts	Oral dental findings
Hearing	Hearing eval	Gastrointestinal nutrition
Development, cognition, behavior	Neurodevelopmental assessment for developmental, cognitive, behavioral issues	—
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of PORCN-DD to facilitate medical personal decision making Family support resources
PORCN-Related Developmental Disorders: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Skin	For persons w/significant areas of dermal aplasia: regular care by dermatologist, occlusive dressings, antibiotic creams may prevent secondary infections. Laser therapy for atrophic areas granulation tissue has documented some improvement1	Erosive lesions may be painful, pruritic, prone to infection. Pruritic erosions: lotion may be helpful in mgmt.
Eval prior to anesthesia	Preoperative eval by otolaryngologist for hypopharyngeal tonsillar papillomas prior to general anesthesia. Any papilloma(s) that could complicate endotracheal intubation should be surgically removed or communicated to anesthesiologist prior to procedure.	Note: Papillomas may change significantly over time, so eval should be w/in few mos of procedure.
Skeletal	Syndactyly, oligodactyly, split-hand/foot malformation: OT, assistive devices, or surgical intervention to improve functionality	Reduction defects of long bones: prostheses as appropriate

Kisho

focal dermal hypoplasia

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

RECQL4

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

focal dermal hypoplasia

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

RECQL4

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.