Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

trichorhinophalangeal syndrome type II - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichorhinophalangeal syndrome type II

MONDO:0007874

Also known as:Langer-Giedion syndromedeletion 8q24.1monosomy 8q24.1

Overview

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

GeneticsAutosomal dominant

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: Multiple long-bone exostoses, Cone-shaped epiphyses of the phalanges of the hand, Sideways curvature of the spine (scoliosis), and Sparse scalp hair; and common findings: Gynecomastia, Joint hypermobility, Pectus excavatum, and Thoracolumbar scoliosis and others. 86 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	10	Osteoma, Avascular necrosis of the capital femoral epiphysis, Joint hypermobility

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 diagnostic criteria for trichorhinophalangeal syndrome (TRPS) have been published. TRPS includes TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by deletion of the contiguous genes TRPS1, RAD21, and EXT1).

Suggestive Findings

TRPS should be suspected in individuals with the following clinical, radiographic, and family history findings.

Clinical Findings

TRPS I and TRPS II

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 trichorhinophalangeal syndrome type II. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and support needs of an individual diagnosed with trichorhinophalangeal syndrome (TRPS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 5.

Trichorhinophalangeal 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 7.

Trichorhinophalangeal Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Skeletal

| • Monitor linear growth.

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 trichorhinophalangeal syndrome type II.

15 publications have been identified in PubMed for trichorhinophalangeal syndrome type II. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (13%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Patient case studies	10	67%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:150230

Orphanet

European rare disease database

Orphanet:502

GARD

Genetic and Rare Diseases Info Center

GARD:7801

Questions for Your Care Team

→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

Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features, ectodermal features (fine, sparse, depigmented, and slow-growing hair, dystrophic nails, and small breasts), and skeletal findings (short stature, short feet, brachydactyly with ulnar or radial deviation of the fingers, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages one month and six years) and an increased risk of mild-to-moderate intellectual disability . The largest cohort of individuals with TRPS reported to date includes 103 affected individuals from a large European collaborative study . This study and other studies demonstrate that the phenotype of TRPS I within a family can vary markedly, and variability can be seen in all clinical and radiographic features. Table 2. Trichorhinophalangeal Syndrome: Frequency of Select Features Feature | % of Persons w/Feature1

TRPS I(n=133)	TRPS II(n=22)	Both TRPS I II(n=155)
Characteristic facial features	~100%	~100%
Sparse hair	85%	70%-80%
Abnormal nails	40%-50%	~50%
Short stature	40%-50%	~80%
Cone-shaped epiphyses	95%	~90%
Brachydactyly	70%-80%	~60%
Short metacarpals	65%	~70%
Hip dysplasia	~25%	~60%
Osteopenia	~20%	25%-30%
Osteochondromas	~0%	85%2
Intellectual disability	~10%	50%-60%
Microcephaly	10%	50%-60%
Cardiac anomalies	~10%	~20%

Source: GeneReviews — "Trichorhinophalangeal Syndrome"

Kisho

trichorhinophalangeal syndrome type II

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Skeletal

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

WDR35

Ectodermal

Skeletal

Development

Endocrinologic

Cardiac

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Development

Recent Publications

Latest News & Developments

Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.

trichorhinophalangeal syndrome type II

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Skeletal

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

Differential Diagnosis

WDR35

Ectodermal

Skeletal

Development

Endocrinologic

Cardiac

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Development

Recent Publications

Latest News & Developments

Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.