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holoprosencephaly 7 (HPE7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 7

MONDO:0012562

Also known as:HPE7PTCH1 holoprosencephalyholoprosencephaly caused by mutation in PTCH1

Overview

Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.

GeneticsAutosomal dominant · PTCH1 (chr 9)

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 common findings: Alobar holoprosencephaly, Unilateral cleft lip, Microcephaly, and Global developmental delay and others; and sometimes findings: Median cleft upper lip, Short nose, Depressed nasal tip, and Hypertelorism and others. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	12	Median cleft upper lip, Broad face, Unilateral cleft lip

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.

PTCH1 function has not been fully characterized.

Holoprosencephaly 7 is associated with mutations in the PTCH1 gene on chromosome 9.

GeneReviews

Clinical Guidance

PTCH1. Individuals with PTCH1 missense pathogenic variants were diagnosed later (P=0.03) and were less likely to develop ten or more BCCs and jaw keratocysts (P=0.03) than those with other PTCH1 pathogenic variants.

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

No consensus clinical diagnostic criteria for nevoid basal cell carcinoma syndrome (NBCCS) have been published. Diagnostic criteria for NBCCS have been proposed .

Suggestive Findings

NBCCS should be suspected in individuals with the following findings, which constitute major or minor diagnostic criteria.

Major criteria

Source: GeneReviews — "Nevoid Basal Cell Carcinoma Syndrome"

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 holoprosencephaly 7. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with nevoid basal cell carcinoma syndrome (NBCCS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Nevoid Basal Cell Carcinoma Syndrome: 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. Nevoid Basal Cell Carcinoma Syndrome: 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.

No clinical trials have been registered for holoprosencephaly 7.

23 publications have been identified in PubMed for holoprosencephaly 7. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	11	48%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610828

Questions for Your Care Team

→Should I pursue genetic testing for PTCH1, and what would the results mean for my family?
→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

Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by macrocephaly, characteristic facial features, congenital rib/vertebral anomalies, ectopic calcification of the falx, basal cell carcinoma, and an increased risk of medulloblastoma and other tumors. To date, more than 500 individuals have been identified with PTCH1-related NBCCS and 176 individuals have been identified with SUFU-related NBCCS . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Nevoid Basal Cell Carcinoma Syndrome: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Craniofacial features	Macrocephaly	90%
Characteristic facial features	~60%	Less frequent than in PTCH1-related NBCCS
Eye findings	60%	Unknown
Cleft lip/palate	5%	NR
Skeletal features	Congenital rib/vertebral anomalies	60%
Ectopic calcification	90% by age 30 yrs	Likely similar to PTCH1-related NBCCS
Polydactyly	1%	Unknown
Tumors	Basal cell carcinoma	90%
Jaw keratocysts	~90%	NR
Medulloblastoma	2%	Up to 20%-33%
Meningioma	2%	11%
Cardiac fibroma	2%	NR
Ameloblastoma	Rare	NR

Source: GeneReviews — "Nevoid Basal Cell Carcinoma Syndrome"

GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of Nevoid Basal Cell Carcinoma Syndrome

Gene/Genetic Mechanism	Disorder	MOI	Features of Disorder
Brooke-Spiegler syndrome	AD	Milia; BCC	Trichoepitheliomas cylindromas; Absence of macrocephaly other congenital skeletal features of NBCCS
ELP1	ELP1-related pediatric medulloblastoma1	AD	Medulloblastoma
GPR161	GPR161-related pediatric medulloblastoma1,2	AD	Multiple BCCs; Medulloblastoma; Meningioma; Frontal bossing
Sotos syndrome	AD	Macrocephaly	Broad prominent forehead, dolichocephaly, sparse frontotemporal hair, downslanting palpebral fissures, long narrow face; Mild-to-severe ID; Risk of other types of tumors not reported in NBCCS PTEN
PTEN hamartoma tumor syndrome	AD	Macrocephaly	Skin features such as trichilemmoma
Lhermitte-Duclos disease Xq26 duplication	Bazex-Dupre-Christol syndrome (OMIM 301845)	XL	Multiple BCCs

Source: GeneReviews — "Nevoid Basal Cell Carcinoma Syndrome"

System/Concern	Evaluation	Comment
Macrocephaly	Baseline head circumference, preferably plotted on a chart that accounts for height	Evidence of rapid increase in centiles should prompt further investigation to exclude hydrocephalus.
Eye manifestations	Ophthalmologic eval for evidence of strabismus, cataract, orbital cyst, microphthalmia, pigmentary changes of retinal epithelium	—
Congenital anomalies (orofacial clefts, rib/vertebral anomalies, polydactyly)	Physical exam for birth defects of clinical significance (e.g., orofacial clefts, spine abnormalities, polydactyly)	—
BCCs	Skin exam by dermatologist familiar w/NBCCS	Jaw keratocysts
Medulloblastoma	Brain MRI w/contrast	—
Cardiac tumors	Echocardiography to evaluate for cardiac fibromas	In 1st yr of life1
Ovarian fibromas	Ultrasound exam of ovaries to evaluate for ovarian fibromas	In women at age 18 yrs1
Genetic counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of NBCCS to facilitate medical personal decision making BCC = basal cell carcinoma; MOI = mode of inheritance; NBCCS = nevoid basal cell carcinoma syndrome 1. 2.
Nevoid Basal Cell Carcinoma Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Macrocephaly	Rarely, treatment for hydrocephalus is indicated.	—
Eye manifestations	Treatment per ophthalmologist	—
Orofacial clefts	Treatment per craniofacial specialists	—
Skeletal anomalies: rib/vertebral anomalies, polydactyly	Treatment per orthopedist as needed	BCCs
Jaw keratocysts	Keratocysts usually require surgical excision.	—
Medulloblastoma	Treatment per neurosurgeon/oncologist	—
Cardiac tumors	Cardiac fibromas may be asymptomatic can be monitored by a pediatric cardiologist.	—
Ovarian fibromas	If ovarian fibromas require surgical treatment, preservation of ovarian tissue is recommended, although it involves a risk of recurrence.5	BCC = basal cell carcinoma; NICE = National Institute for Health and Care Excellence; UK = United Kingdom 1. Systemic treatment of BCCs with retinoids (e.g., etretinate) is possible but often not well tolerated. 2. 3. 4. 5.

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holoprosencephaly 7

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

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

holoprosencephaly 7

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

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications