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geleophysic dysplasia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

geleophysic dysplasia 1

MONDO:0009269

Also known as:ADAMTSL2 geleophysic dysplasiaGeleophysic dysplasia type 1geleophysic dysplasia caused by mutation in ADAMTSL2

Overview

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.

GeneticsAutosomal recessive · ADAMTSL2 (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 always present findings: Short stature, Thin upper lip vermilion, Short long bone, and Joint stiffness; and very common findings: Long philtrum, Round face, Wide nasal bridge, and Delayed skeletal maturation and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Hypoplasia of the capital femoral epiphysis, Mild bone density loss (osteopenia), Short long bone

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.

ADAMTSL2 encodes ADAMTS like 2 (951 aa). Highest expression in Heart Atrial Appendage (54.5 TPM) and Lung (39.0 TPM).

Geleophysic dysplasia 1 is associated with mutations in the ADAMTSL2 gene on chromosome 9.

ADAMTSL2 is classified as a druggable target with score 8.7.

20 pathogenic variants reported in ADAMTSL2 in ClinVar.

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 geleophysic dysplasia have been published.

Suggestive Findings

Geleophysic dysplasia should be suspected in individuals with the following clinical and radiographic findings.

Clinical findings

Proportionate short stature
Very short hands and feet

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 geleophysic dysplasia 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines have been published (see Supplementary Data in ). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with geleophysic dysplasia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Geleophysic Dysplasia: 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 according to published guidelines . Table 8. Geleophysic Dysplasia: 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 geleophysic dysplasia 1.

12 publications have been identified in PubMed for geleophysic dysplasia 1. Research spans Case Report / Case Series (58%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	7	58%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231050

GARD

Genetic and Rare Diseases Info Center

GARD:15172

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

Geleophysic dysplasia is a progressive disorder resembling a lysosomal storage disorder, involving bones and joints, cardiac valves, and skin. To date about 100 individuals have been reported: 51 affected individuals in two large cohorts and 55 in case reports [, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ]. Table 2. Geleophysic Dysplasia: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Skeletal	Characteristic skeletal manifestations	100%
Additional orthopedic manifestations	30%-40%	Osteochondritis, carpal tunnel syndrome
Cardiac manifestations	70%	Valvulopathy (progressive in half of affected persons); atrioventricular septal defect in 20% of individuals
Pulmonary hypertension	40%	Respiratory/
ENT	Respiratory manifestations	50%
Multilevel airway obstruction	30%	Airway stenosis /or malacia
Hearing loss	40%	Conductive hearing loss
Ophthalmologic manifestations	45%	Refractive errors, papillary edema
Hepatomegaly	40%	Related to right heart valve defect in some persons Skeletal manifestations. About 40% of individuals present with a birth length below the 5th percentile; a skeletal disorder is usually suspected in the first months of life because of short stature and short hands and feet.

Source: GeneReviews — "Geleophysic Dysplasia"

System/Concern	Evaluation	Comment
Cardiac	Eval by cardiologist incl EKG echocardiography to evaluate for cardiac valve defect, septal defect, pulmonary hypertension	—
Pulmonary	Eval by pulmonologist to assess for obstructive or restrictive lung disease, obstructive sleep apnea, asthma	Polysomnography
ENT	Flexible endoscopy (w/rigid endoscopy as needed) to assess for upper airway obstruction adenoidal hypertrophy	—
Hearing	Hearing assessment	Eyes
Hepatic	Assessment of liver size by clinical assessment /or ultrasound exam	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of geleophysic dysplasia to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral MOI = mode of inheritance 1.
Geleophysic Dysplasia: Recommended Surveillance System/Concern/Specialty	Evaluation	Frequency by Age
Birth-3 yrs	3-10 yrs	11-18 yrs
Genetic counseling incl information re support organizations	Every 6 mos	Yearly
Radiographs for hip dysplasia	Yearly	Every 2 yrs
Neurologic	EMG to assess for carpal tunnel syndrome	--
Cardiology	Eval w/cardiologist incl EKG echocardiography to assess for valvular valve defects pulmonary hypertension	Yearly
Pulmonary	Eval w/pulmonologist for restrictive lung disease, obstructive sleep apnea, asthma	Yearly
Thoracic CT scan	--	At age 6 yrs
Audiogram for conductive deafness	Yearly	At age 6 yrs

Kisho

geleophysic dysplasia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

LTBP2

ADAMTSL2

LTBP3

SMAD4

Clinical Trials

Recent Publications

geleophysic dysplasia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

LTBP2

ADAMTSL2

LTBP3

SMAD4

Clinical Trials

Recent Publications